68:
266:
1036:
474:, are hyper pigmented lesions that may vary in color from light brown to dark brown; this is reflected by the name of the condition, which means "coffee with milk". The borders may be smooth or irregular. These spots can grow from birth and can continue to grow throughout the person's lifetime. They can increase in size and numbers during puberty and during pregnancies. They are present in about 99% of patients of European origin and in about 93% of patients of Indian origin.
916:. Malignant nerve sheath tumor was the main cause of death (60%) in a study of 1895 patients with NF-1 from France in the time period 1980–2006 indicated excess mortality in NF-1 patients compared to the general population. The cause of death was available for 58 (86.6%) patients. The study found excess mortality occurred among patients aged 10 to 40 years. Significant excess mortality was found in both males and females.
255:
451:, where growth at the epiphyseal (growth) plate is halted. It can be performed on one side of the bone to help correct an angular deformity, or on both sides to stop growth of that bone completely. The surgery must also be carefully planned with regard to timing, as it is non-reversible. The goal is that the limbs are at near-equal length at end of growth.
999:
caused a mutation in the neurofibromin gene, leading to the NF1 phenotype. Two recurrent microdeletion types with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP-c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the 1.2 Mb type-2 microdeletion), are found in most cases.
670:
622:: Often congenital. Lesions are composed of sheets of neurofibromatous tissue that may infiltrate and encase major nerves, blood vessels, and other vital structures. These lesions are difficult and sometimes impossible to routinely resect without causing any significant damage to surrounding nerves and tissue.
446:
Unilateral overgrowth of a limb. When a plexiform neurofibroma manifests on a leg or arm, it will cause extra blood circulation, and may thus accelerate the growth of the limb. This may cause considerable difference in length between left and right limbs. To equalize the difference during childhood,
1211:
For many NF-1 patients, a primary concern is the disfigurement caused by cutaneous/dermal neurofibromas, pigmented lesions, and the occasional limb abnormalities. However, there are many more severe complications caused by NF-1 like increased cancer risk, a plexiform neurofibroma has a 10-15% chance
1155:
Treatment for NF1 is limited, and there is currently no cure. Pain meds can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy. Treatment options are limited, given the tumours tendency to regrow following surgery and their propensity
835:
People with NF1 are at increased risk for experiencing social and emotional difficulties such as; anxiety, depression, low self-esteem and/or body image, social withdrawal, difficulty forming interpersonal relationships, behavioural problems, and difficulties in school. People with NF1 are much more
542:
The most common complication in patients with NF-1 is cognitive and learning disability. These cognitive problems have been shown to be present in approximately 90% of children and adults with NF-1 and have significant effects on their schooling and everyday life. These cognitive problems have been
273:
The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical specialties. The progression of the condition
1176:
sold under the brand name
Koselugo, and was approved by the FDA in April 2020 for the treatment of NF-1 in the pediatric population who are two or more years of age. It is a mitogen-activated protein kinase inhibitor (MEKi) and is indicated for use in pediatric patients who are symptomatic and have
871:
Children diagnosed with NF-1 may experience delayed or precocious puberty. Recent studies have correlated precocious puberty in individuals with NF-1 with the presence of optic pathway tumours. Furthermore, the heights of children affected by NF-1 have been shown to increase normally until puberty,
408:
family of diseases, which include
Costello Syndrome, Noonan Syndrome, and Cardiofaciocutaneous syndrome. The RASopathies also present with skeletal muscle weakness. It is likely that impaired muscle function in these disorders is linked to altered Ras/MAPK signalling, however, the precise molecular
236:
The severity of NF-1 varies widely, and little is known about what causes a person to have more severe or less severe symptoms. Even within the same family (as there is a 50% chance that a parent will pass their condition to their offspring), levels of severity can vary enormously. However, 60% of
998:
In 1989, through linkage and cross over analyses, neurofibromin was localized to chromosome 17. It was localized to the long arm of chromosome 17 by chance when researchers discovered chromosome exchanges between chromosome 17 with chromosome 1 and 22. This exchange of genetic material presumably
836:
likely to experience suicidal thoughts than the general population. One study found that 45% of people with NF had suicidal thoughts compared to 10% of a healthy control group. Another study found that 46.5% were of people with NF1 were found to have at least one psychiatric comorbid diagnosis.
1007:
The neurofibromin gene was soon sequenced and found to be 350,000 base pairs in length. However, the protein is 2818 amino acids long leading to the concept of splice variants. For example, exon 9a, 23a and 48a are expressed in the neurons of the forebrain, muscle tissues and adult neurons
1011:
Homology studies have shown that neurofibromin is 30% similar to proteins in the GTPase activating protein (GAP) family. This homologous sequence is in the central portion of neurofibromin and being similar to the GAP family is recognized as a negative regulator of the
2523:
Chisholm, Anita K.; Haebich, Kristina M.; Pride, Natalie A.; Walsh, Karin S.; Lami, Francesca; Ure, Alex; Maloof, Tiba; Brignell, Amanda; Rouel, Melissa; Granader, Yael; Maier, Alice; Barton, Belinda; Darke, Hayley; Dabscheck, Gabriel; Anderson, Vicki A. (2022-01-04).
1106:
over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals. Note that multiple café-au-lait spots alone are not a definitive diagnosis of NF-1 as these spots can be caused by a number of other
794:, pons, midbrain, globus pallidus, thalamus, and optic radiations. Their exact identity remains a bit of a mystery since they disappear over time (usually, by age 16), and they are not typically biopsied or resected. They may represent a focally degenerative bit of
1156:
to transform into malignant tumours following radiation. Although surgery in these areas can cause further injury to nerves and additional neurological problems. The benefits of surgery should always be considered against its risks. Some NF tumours are inoperable.
1097:
The
National Institutes of Health (NIH) has created specific criteria for the diagnosis of NF-1. Two of these seven "Cardinal Clinical Features" are required for positive diagnosis. There is practical flowchart to distinguish between NF1, NF2 and schwannomatosis.
5066:
245:
patients have moderate cases, with several symptoms that have little more than cosmetic effects. The other 20% have severe cases, with several symptoms that affect the person's quality of life. Even in this last group, symptoms are rarely life-threatening.
543:
shown to be stable into adulthood mainly in the mid 20s to early 30s and do not get worse unlike some of the other physical symptoms of NF-1. The most common cognitive problems are with perception, executive functioning and attention. Disorders include:
4181:
3612:
3592:
3389:
Coltin H, Perreault S, Larouche V, Black K, Wilson B, Vanan MI, et al. (August 2022). "Selumetinib for symptomatic, inoperable plexiform neurofibromas in children with neurofibromatosis type 1: A national real-world case series".
382:
Deficits in motor function in NF-1 have been long recognised and have been historically attributed to nerve dysfunction. In recent years however, studies suggest NF-1 is associated with a primary problem in muscle function (myopathy).
5059:
400:
Studies in genetically modified mice have thus far confirmed that the NF1 gene is vital for normal muscle development and metabolism. Knockout of the NF1 gene in muscle results in deregulated lipid metabolism and muscle weakness.
1184:, fatigue, muscle pain, Constipation, Paronychia as well as dry skin and other skin and hair problems. The side effects can have a significant impact on a patient's life and may lead to someone having to discontinue treatment.
929:
and may have an increased breast cancer related mortality. The median survival for breast cancer in people with NF was 5 years vs. the reported median survival of over 20 years in the general population using the SEER database.
1027:. Together, likely with domains yet to be discovered, neurofibromin regulates many of the pathways responsible for overactive cell proliferation, learning impairments, skeletal defects and plays a role in neuronal development.
820:
pulsation, and typically presents as paraesthesia or loss of motor or sensory function. It has been shown that dural ectasia occur near plexiform neurofibromas which may be infiltrative leading to weakening of the dura.
5841:
5052:
586:
is a rare condition defined by the presence of multiple benign tumors of nerves that are frequently very painful. In addition to pain, weakness is a common problem. Symptoms usually begin in young or mid-adult years.
1203:
NF-1 is a progressive and diverse condition, making the prognosis difficult to predict. The NF-1 gene mutations manifest the disorder differently even amongst people of the same family. This phenomenon is called
2353:
Berardelli, Isabella; Maraone, Annalisa; Belvisi, Daniele; Pasquini, Massimo; Giustini, Sandra; Miraglia, Emanuele; Iacovino, Chiara; Pompili, Maurizio; Frascarelli, Marianna; Fabbrini, Giovanni (November 2021).
418:
5019:
4919:
4637:
4578:
1085:
People with NF-1 have a 50% percent chance of passing the disorder to their offspring, but people can have a child born with NF-1 when they themselves do not have the condition. This is caused by a
2955:
Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, et al. (December 1991). "cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product".
2797:
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, et al. (July 1990). "Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients".
461:
494:, manifested as single or multiple firm, rubbery bumps of varying sizes on a person's skin. Age of onset is puberty. Progressive in number and size. Not malignant. Can be treated with
3847:
2409:
Brar, Kanwarjeet S.; Trivedi, Chintan; Kaur, Navdeep; Adnan, Mahwish; Patel, Hiren; Beg, Uzma; Qureshi, Mustafa; Mansuri, Zeeshan; Ibrahim, Aalamgeer; Zafar, Muhammad K. (2023-10-03).
1993:
Hyman SL, Gill DS, Shores EA, Steinberg A, Joy P, Gibikote SV, North KN (April 2003). "Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1".
646:, peripheral nerve-sheath tumors which are seen with increased frequency in NF-1. The major distinction between a schwannoma and a solitary neurofibroma is that a schwannoma can be
5821:
1208:. For example, some individuals have almost no symptoms, while others may have a manifestation that is rapidly more progressive and can lead to significant disability and death.
533:
can cause bulging of the eyes, involuntary eye movement, squinting, and / or vision loss. Treatment may include surgery, radiation +/- steroids, or chemotherapy (in children).
2261:
Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, et al. (May 2020). "Dural
Ectasia in Neurofibromatosis 1: Case Series, Management, and Review".
2585:
Virdis, R et al. "Growth and
Pubertal Disorders in Neurofibromatosis Type 1." Journal of pediatric endocrinology & metabolism : JPEM. 16 Suppl 2 (2003): 289–292. Print.
4314:
656:
Bones, especially the ribs, can develop chronic erosions (pits) from the constant pressure of adjacent neurofibroma or schwannoma. Similarly, the neural foramen of the
5851:
3972:
1293:
4550:
3434:
786:
Another CNS manifestation of NF-1 is the so-called "unidentified bright object" or UBO, which is a lesion which has increased signal on a T2 weighted sequence of a
660:
can be widened due to the presence of a nerve root neurofibroma or schwannoma. Surgery may be needed when NF-1 related tumors compress organs or other structures.
1194:
After 1 year of treatment, the mean decrease in child-reported tumour pain-intensity scores was 2 points, which is considered a clinically meaningful improvement
872:
after which increases in height lessen when compared to healthy counterparts. This eventually causes a shorter stature than expected in individuals with NF-1.
3138:"The neurofibromatosis type 1 gene product neurofibromin enhances cell motility by regulating actin filament dynamics via the Rho-ROCK-LIMK2-cofilin pathway"
4882:
1360:
1261:
396:
Muscle weakness (The most recent study reports between 30–50% reduced upper and lower limb muscle strength in NF-1 children compare with matched controls).
1082:
While the presence of NF-1 can be identified through prenatal testing the severity with which the condition will be expressed is impossible to determine.
5599:
4451:
4288:
373:
are the most common skeletal manifestation of NF-1, occurring in 20% of affected patients. Approximately 25% of patients will require corrective surgery.
3980:
3497:
5451:
4497:
3985:
1883:
849:
554:
1535:
5778:
5003:
4927:
4851:
4171:
3811:
2088:
Thompson HL, Viskochil DH, Stevenson DA, Chapman KL (February 2010). "Speech-language characteristics of children with neurofibromatosis type 1".
884:
816:, which is the tough covering of the brain and spine. Weakness of the dura leads to focal enlargement due to chronic exposure to the pressures of
747:. Electroencephalograph, magnetic resonance imaging, computed tomographic scan, single-photon emission CT and positron emission tomographic scan.
5197:
1807:
Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, et al. (September 2012). "Peripheral muscle weakness in RASopathies".
1623:
159:
As of 2015, there are at least 100,000 people in the U.S. and about 25,000 people in the UK who have been diagnosed with NF. Common symptoms of
5530:
4368:
4252:
4156:
429:
1499:
1019:
Additionally, being such a large protein, more active domains of the protein have been identified. One such domain interacts with the protein
284:
Small tumors may arise in the retina which can eventually lead to blindness. Also, Lisch
Nodules may grow on the iris, but these are harmless.
4309:
3332:
1389:
Costa RM, Silva AJ (August 2002). "Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1".
3052:
Feldkamp MM, Angelov L, Guha A (February 1999). "Neurofibromatosis type 1 peripheral nerve tumors: aberrant activation of the Ras pathway".
5806:
5314:
5269:
5207:
4517:
3806:
1212:
of developing into a MPNST (Malignant
Peripheral Nerve Sheath Tumour) Epidemiology NF-1 is estimated to affect around 25,000 people in the
4262:
551:, with 36.78% of them being severe cases, 33.33% being mild to moderate cases, and 29.89% of them having both symptoms of autism and ADHD.
4115:
1950:
Hyman SL, Shores A, North KN (October 2005). "The nature and frequency of cognitive deficits in children with neurofibromatosis type 1".
4689:
4543:
4002:
3627:
3225:
2648:
2631:
230:
2608:
2236:
1243:, had suffered from neurofibromatosis type 1 (NF1). In 1986, geneticists Tibbles and Cohen conjectured that Merrick was afflicted with
5668:
5138:
5118:
5128:
3995:
5683:
4080:
3852:
2410:
2180:
Vivarelli R, Grosso S, Calabrese F, Farnetani M, Di
Bartolo R, Morgese G, Balestri P (May 2003). "Epilepsy in neurofibromatosis 1".
1076:
67:
5378:
5187:
5143:
4877:
3832:
3743:
3089:"Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras"
3471:
1282:
290:
Neurofibromas may occur and can sometimes cause many dependent neurological conditions and cutaneous and skeletal disfigurement.
5846:
582:
The primary neurologic involvement in NF-1 is of the peripheral nervous system, and secondarily of the central nervous system.
2724:"Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature"
132:
that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types.
5182:
5081:
4536:
4283:
4398:
1047:
The mutant gene is transmitted with an autosomal dominant pattern of inheritance, but up to 50% of NF-1 cases arise due to
5386:
5334:
5252:
4684:
4257:
4166:
4105:
3927:
570:
5604:
5202:
4856:
4456:
1449:"Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation"
628:, affecting 8–12% of patients with NF-1. This occurs in a deep nerve trunk. Diagnosis by cross-sectional imaging (e.g.,
5628:
5582:
5410:
4729:
265:
4425:
650:
while sparing the underlying nerve, whereas resection of a neurofibroma requires the sacrifice of the underlying nerve.
5425:
4436:
4247:
4017:
3882:
3242:
5510:
5419:
5133:
4512:
774:
Intracranially, NF-1 patients have a predisposition to develop glial tumors of the central nervous system, primarily
4361:
4125:
4090:
4070:
4022:
1177:
inoperable plexiform neurofibromas. However, this medication is not curative and is not suitable for all patients.
901:
787:
633:
221:
NF-1 is an age-specific disease; most signs of NF-1 are visible after birth (during infancy), but many symptoms of
5468:
5362:
4393:
362:
of the dura of the spine. This may result in temporary or permanent loss of lower extremity sensorimotor function.
5861:
5736:
5297:
5090:
4941:
4481:
4204:
4045:
3937:
3801:
1256:
1191:
35 patients (70%) had a confirmed partial response, 28 of these patients had a durable response (lasting ≥1 year)
5482:
5044:
1368:
5792:
5192:
5166:
4780:
4775:
4567:
4278:
3638:
2464:
Miguel, Carmen SĂlvia; Chaim-Avancini, Tiffany M; Silva, Maria
Aparecida; LouzĂŁ, Mario Rodrigues (2015-03-25).
305:
31:
3458:
2041:"Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study"
2296:
Cohen, Julie S.; Levy, Howard P.; Sloan, Jennifer; Dariotis, Jacinda; Biesecker, Barbara B. (November 2015).
1139:
A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without
827:
has shown promise as a treatment for this condition, and in very few cases do dural ectasia require surgery.
210:). Due to its rarity, and to the fact that genetic diagnosis has been used only in recent years, in the past
5570:
5517:
5323:
4559:
4224:
4209:
4196:
4151:
4050:
4012:
3962:
3859:
3348:
Rodrigues LO, Batista PB, Goloni-Bertollo EM, de Souza-Costa D, Eliam L, Eliam M, et al. (March 2014).
1205:
437:
195:. While some people have major complications, others with the condition can lead productive and full lives.
2466:"Neurofibromatosis type 1 and attention deficit hyperactivity disorder: a case study and literature review"
5496:
5174:
5031:
Note: Not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain (see
4699:
4694:
4628:
4507:
4421:
4219:
4214:
4161:
4146:
3786:
3776:
2853:
1181:
1072:
950:
560:
Speech and language delays have also been identified in approximately 68% of preschool children with NF-1.
432:
or CPT. CPT occurs in 2–4% of individuals with NF-1. Treatment includes limb amputation or correction by
229:
was formerly known as von
Recklinghausen disease, after the researcher who first documented the disorder,
172:
1891:
5614:
4996:
4955:
4679:
4502:
4354:
3781:
1546:
1225:
1180:
Side effects of Selumetinib include headache, nausea/vomiting, abdominal pain and other problems of the
625:
241:
have mild cases, with few symptoms that have very little effect in their day-to-day lives. About 20% of
2673:"Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France"
673:
MRI image showing malignant peripheral nerve sheath tumor in the left tibia in neurofibromatosis type-1
140:
is one of the most common genetic disorders and is not limited to any person's race or sex. NF-1 is an
2671:
Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, Hadj-Rabia S, et al. (May 2011).
2223:
Listernick R, Charrow J, Gutmann DH (March 1999). "Intracranial gliomas in neurofibromatosis type 1".
1035:
604:
is a lesion of the peripheral nervous system. Its cellular lineage is uncertain, and may derive from
5856:
4960:
4770:
3736:
2806:
1624:"Sudden bilateral lower limb paralysis with dural ectasia in Neurofibromatosis type 1: A case report"
1103:
1086:
468:
258:
188:
3524:
Legendre, Claire-Marie; Charpentier-Côté, Catherine; Drouin, Régen; Bouffard, Chantal (2011-01-01).
443:
Malformation of the facial bones or of the eye sockets (lambdoid suture defects, sphenoid dysplasia)
4803:
4186:
3771:
3616:
1510:
984:
817:
647:
629:
180:
5652:
5522:
5283:
5178:
5108:
4967:
4909:
4416:
4085:
3892:
3457:
AstraZeneca Pharmaceuticals LP. Koselugo(Selumetinib). U.S. Food and Drug Administration website.
3415:
2934:
2446:
2391:
2298:"Depression Among Adults with Neurofibromatosis Type 1: Prevalence and Impact on Quality of Life"
2205:
2162:
2113:
2070:
2018:
1975:
1832:
1740:
1414:
1127:
1040:
894:. A plexiform neurofibroma has a lifetime risk of 8–12% of transformation into a malignant tumor.
775:
679:
522:
433:
199:
141:
17:
152:, although presentation varies widely and is often different even between relatives affected by
1850:
Lakshmanan A, Bubna A, Sankarasubramaniam A, Veeraraghavan M, Rangarajan S, Sundaram M (2016).
5233:
4980:
4724:
4589:
4468:
4304:
4229:
4130:
4055:
3902:
3842:
3796:
3791:
3678:
3649:
3555:
3547:
3407:
3371:
3328:
3208:
3159:
3118:
3069:
3034:
2982:
2926:
2885:
2822:
2755:
2704:
2653:
2612:
2565:
2547:
2505:
2487:
2438:
2430:
2383:
2375:
2335:
2317:
2278:
2240:
2197:
2154:
2105:
2062:
2010:
1967:
1824:
1789:
1732:
1691:
1645:
1601:
1478:
1447:
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. (August 2021).
1406:
1342:
1020:
791:
80:
3272:
3136:
Ozawa T, Araki N, Yunoue S, Tokuo H, Feng L, Patrakitkomjorn S, et al. (November 2005).
2903:
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, et al. (June 2010).
269:
Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items.
5730:
5647:
5544:
5439:
5348:
5032:
4798:
4441:
4335:
4120:
4037:
4027:
3990:
3922:
3897:
3887:
3816:
3766:
3537:
3399:
3361:
3305:
3198:
3190:
3149:
3108:
3100:
3061:
3024:
3016:
2972:
2964:
2916:
2877:
2814:
2745:
2735:
2694:
2684:
2643:
2604:
2555:
2537:
2495:
2477:
2422:
2367:
2325:
2309:
2270:
2232:
2189:
2144:
2097:
2052:
2002:
1959:
1912:
1863:
1816:
1779:
1771:
1722:
1681:
1635:
1591:
1583:
1468:
1460:
1398:
1332:
1322:
1244:
1232:, Von Recklinghausen disease (referred to as "The Condition") is a key element of the plot.
1229:
1064:
693:
657:
324:
2773:
293:
Depression and social anxiety may occur as a result of disabilities caused by the condition
5642:
5609:
5536:
5247:
5103:
4872:
4716:
4446:
4330:
4100:
4060:
3932:
3729:
1114:
974:
966:
939:
860:
845:
583:
215:
203:
184:
121:
3309:
2881:
2839:
1852:"A clinical study of neurofibromatosis-1 at a tertiary health care centre in south India"
3435:"FDA Approves First Therapy for Children with Debilitating and Disfiguring Rare Disease"
2810:
1146:
A first degree relative (parent, sibling, or offspring) with NF-1 by the above criteria.
358:
can lead to scalloping of the posterior vertebral bodies and to the formation of cystic
254:
30:
For Von Recklinghausen's disease of bone, a disorder seen with hyperparathyroidism, see
5764:
5622:
5550:
4841:
4832:
4762:
4431:
4176:
4065:
3837:
3621:
3203:
3178:
3113:
3088:
3029:
3004:
2750:
2723:
2699:
2672:
2560:
2525:
2500:
2465:
2330:
2297:
2006:
1963:
1916:
1784:
1759:
1758:
Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, et al. (March 2014).
1686:
1669:
1596:
1571:
1473:
1448:
1337:
1310:
1240:
1236:
1213:
1140:
970:
516:
448:
425:
3526:"Neurofibromatosis Type 1: Persisting Misidentification of the "Elephant Man" Disease"
3065:
5835:
4950:
4836:
4752:
4110:
4075:
3419:
2968:
2630:
Matsui I, Tanimura M, Kobayashi N, Sawada T, Nagahara N, Akatsuka J (November 1993).
2450:
2395:
2356:"The importance of suicide risk assessment in patients affected by neurofibromatosis"
2149:
2132:
2131:
van der Vaart T, van Woerden GM, Elgersma Y, de Zeeuw CI, Schonewille M (June 2011).
1622:
Mutua V, Mong'are N, Bundi B, von Csefalvay C, Oriko D, Kitunguu P (September 2021).
1013:
992:
978:
962:
926:
824:
807:
605:
317:
313:
168:
129:
93:
2938:
2868:
Goldberg NS, Collins FS (November 1991). "The hunt for the neurofibromatosis gene".
2209:
2166:
2117:
2074:
2039:
Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, Green J (February 2013).
2022:
1979:
1836:
1744:
1418:
5217:
4987:
4975:
4704:
4647:
4385:
4377:
3689:
1500:"Neurofibromatosis 1: Current Issues in Diagnosis, Therapy, and Patient Management"
1133:
697:
619:
601:
530:
526:
512:
495:
491:
349:
345:
164:
85:
2371:
1938:
3643:
3542:
2722:
Suarez-Kelly LP, Yu L, Kline D, Schneider EB, Agnese DM, Carson WE (2019-03-25).
2193:
1668:
Summers MA, Quinlan KG, Payne JM, Little DG, North KN, Schindeler A (June 2015).
1640:
5593:
5401:
4846:
4808:
4674:
4642:
4594:
4528:
3942:
3917:
3912:
3877:
3704:
3698:
3692:
3673:
1933:
1311:"Neurofibromatosis 1 Diagnosed in Mother Only after a Follow-up of Her Daughter"
1173:
1169:
769:
609:
359:
296:
Neurofibromas may, in 8-13% of cases, transition into cancer, which can be fatal
218:, another syndrome with vaguely similar symptoms, including cafe-au-lait spots.
89:
3243:"British couple successfully screens out genetic disorder using NHS-funded PGD"
2649:
10.1002/1097-0142(19931101)72:9<2746::AID-CNCR2820720936>3.0.CO;2-W
2542:
1464:
1402:
144:
disorder, which means that mutation or deletion of one copy (or allele) of the
5711:
4991:
4904:
4747:
3957:
3907:
3709:
3695:
3654:
3601:
3366:
3349:
2740:
2526:"Delineating the autistic phenotype in children with neurofibromatosis type 1"
1118:
813:
702:
643:
564:
3551:
2551:
2491:
2434:
2379:
2321:
2133:"Motor deficits in neurofibromatosis type 1 mice: the role of the cerebellum"
1868:
1851:
1649:
5697:
5157:
4666:
4614:
4408:
3952:
3684:
2905:"NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype"
2842:
2818:
2411:"Prevalence of Psychiatric Comorbidities in Patients With Neurofibromatosis"
2355:
2274:
753:. Due to cerebral tumors, cortical malformation, mesial temporal sclerosis.
405:
366:
339:
207:
176:
136:
causes tumors along the nervous system which can grow anywhere on the body.
3559:
3459:
https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/213756s000lbl.pdf
3411:
3375:
3250:
3212:
3194:
3163:
3154:
3137:
3122:
3073:
3038:
3020:
2930:
2759:
2708:
2689:
2616:
2569:
2509:
2442:
2387:
2339:
2282:
2244:
2201:
2158:
2109:
2066:
2014:
1971:
1828:
1793:
1736:
1695:
1605:
1482:
1410:
1346:
1327:
424:
Bowing of a long bone with a tendency to fracture and not heal, yielding a
348:
and formation of cystic diverticula of the dura of the spine, unrelated to
331:
In NF-1, there can be a generalized abnormality of the soft tissues in the
3179:"Tumor microenvironment and neurofibromatosis type I: connecting the GAPs"
2986:
2889:
2826:
2657:
2609:
10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w
2237:
10.1002/(sici)1096-8628(19990326)89:1<38::aid-ajmg8>3.0.co;2-m
1570:
Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A (May 2002).
1432:
4896:
4739:
4007:
3947:
3525:
3104:
2977:
2426:
2101:
1775:
1587:
1048:
981:
954:
728:
637:
370:
336:
192:
3584:
563:
Motor deficits are common. Motor deficits due to NF-1 are probably not
557:
has been shown to be present in approximately 40% of children with NF-1.
5758:
5750:
5744:
5677:
5462:
2921:
2904:
2482:
2057:
2040:
1727:
1710:
1068:
477:
3403:
2313:
1923:. New York, NY: The National Neurofibromatosis Foundation, Inc. Print.
1820:
856:
30 - 50% of people with NF1 also meet the diagnostic criteria for ADHD
612:. Neurofibromas may arise sporadically, or in association with NF-1.
5786:
5772:
5691:
5636:
5397:
5342:
4824:
4657:
3752:
3596:
2256:
2254:
988:
880:
795:
548:
481:
120:, is a complex multi-system human disorder caused by the mutation of
1884:"Northwestern Health Sciences University ~ Diagnosis and Discussion"
969:(not to be confused with the disorder itself) which plays a role in
925:
Biological females with NF also have a five-fold increased risk of
887:
resulting from malignant degeneration of a plexiform neurofibroma.
5504:
5490:
5476:
5433:
5328:
5291:
5277:
5263:
3350:"Neurofibromatoses: part 1 - diagnosis and differential diagnosis"
3087:
Hannan F, Ho I, Tong JJ, Zhu Y, Nurnberg P, Zhong Y (April 2006).
1760:"NF1 is a critical regulator of muscle development and metabolism"
1572:"Malignant peripheral nerve sheath tumours in neurofibromatosis 1"
1122:
1034:
1024:
668:
485:
419:
List of radiographic findings associated with cutaneous conditions
332:
309:
264:
253:
1187:
In an open-label, phase 2 trial of selumetinib with 50 children:
1110:
Two or more neurofibromas of any type or 1 plexiform neurofibroma
790:
examination of the brain. These UBOs are typically found in the
163:
include brownish-red spots in the colored part of the eye called
5800:
5705:
5564:
5558:
5356:
5308:
5241:
5227:
3632:
3605:
3498:"Neurofibromatosis Type 1 (NF1) a Guide for Adults and Families"
3229:
1670:"Skeletal muscle and motor deficits in Neurofibromatosis Type 1"
1067:
may be used to identify the existence of NF-1 in the fetus. For
1043:
fashion, although it can also arise due to spontaneous mutation.
958:
669:
125:
5048:
4532:
4350:
4346:
3725:
5020:
WHO classification of the tumors of the central nervous system
1361:"About Neurofibromatosis – The University of Chicago Medicine"
278:
Congenital musculoskeletal disorders may or may not be present
5842:
Deficiencies of intracellular signaling peptides and proteins
5075:
Deficiencies of intracellular signaling peptides and proteins
428:. The most common bone to be affected is the tibia, causing
3496:
Ashton R, Crawford H, Morrison P, McKee S, Huson S (2012).
3325:
The neurofibromatoses: a pathogenetic and clinical overview
1711:"Muscle weakness in children with neurofibromatosis type 1"
678:
Chronic pain, numbness, and/or paralysis due to peripheral
1488:- "User License: Creative Commons Attribution (CC BY 4.0)"
961:
located on chromosomal segment 17q11.2 on the long arm of
3721:
759:. Drug therapy (57% amenable) where not resistant (29%).
547:
Approximately 42% of children with NF-1 have symptoms of
3848:
Pervasive developmental disorder not otherwise specified
2854:"Human Gene NF1 (uc002hgf.1) Description and Page Index"
2360:
International Journal of Psychiatry in Clinical Practice
1921:
Living with Neurofibromatosis Type 1: A Guide for Adults
1051:. The incidence of NF-1 is about 1 in 3500 live births.
737:. Epileptic seizures have been reported in up to 7% of
462:
List of conditions associated with café au lait macules
1709:
Cornett KM, North KN, Rose KJ, Burns J (August 2015).
1674:
Journal of Musculoskeletal & Neuronal Interactions
502:
or by removal by a plastic surgeon specialized in NF1.
615:
Neurofibroma conditions are progressive and include:
342:, resulting in maldevelopment of skeletal structures.
287:
Learning disabilities may arise in preschool children
281:
Cutaneous conditions may be observed in early infancy
3574:
3530:
The Journal of the American Board of Family Medicine
812:
Within the CNS, NF-1 manifests as a weakness of the
5722:
5667:
5581:
5450:
5409:
5395:
5377:
5216:
5165:
5156:
5117:
5089:
5080:
5012:
4940:
4918:
4895:
4865:
4821:
4791:
4761:
4738:
4715:
4665:
4656:
4636:
4627:
4603:
4575:
4566:
4490:
4467:
4407:
4384:
4323:
4297:
4271:
4240:
4195:
4139:
4036:
3971:
3868:
3825:
3759:
3664:
3578:
378:
Skeletal muscle weakness and motor control deficits
225:occur as the person ages and has hormonal changes.
99:
79:
47:
42:
1663:
1661:
1659:
2998:
2996:
2950:
2948:
2863:
2861:
2595:Korf BR (March 1999). "Plexiform neurofibromas".
1309:Kunc V, Venkatramani H, Sabapathy SR (May 2019).
1536:"Current Therapies for Neurofibromatosis Type 1"
2632:"Neurofibromatosis type 1 and childhood cancer"
386:Clinical findings in people with NF-1 include:
1617:
1615:
206:, a gene that is involved in the RAS pathway (
5822:intracellular signaling peptides and proteins
5060:
4544:
4362:
3737:
2034:
2032:
8:
2415:The Primary Care Companion for CNS Disorders
2090:American Journal of Medical Genetics. Part A
1304:
1302:
171:, and larger benign tumors of nerves called
4883:Embryonal tumour with multilayered rosettes
3296:"Neurofibromatosis: Conference Statement".
3005:"Mouse models of neurofibromatosis 1 and 2"
1262:Characteristics of syndromic ASD conditions
198:NF-1 is a developmental syndrome caused by
5406:
5162:
5086:
5067:
5053:
5045:
4662:
4653:
4633:
4572:
4551:
4537:
4529:
4369:
4355:
4347:
4289:Ritvo Autism and Asperger Diagnostic Scale
3744:
3730:
3722:
3575:
2045:Developmental Medicine and Child Neurology
1715:Developmental Medicine and Child Neurology
1628:Medicine: Case Reports and Study Protocols
1060:Prenatal testing and prenatal expectations
467:Flat pigmented lesions of the skin called
75:Main symptoms of neurofibromatosis type I.
66:
39:
5684:EDARADD Hypohidrotic ectodermal dysplasia
3981:Avoidant/restrictive food intake disorder
3541:
3433:Office of the Commissioner (2020-04-10).
3365:
3202:
3153:
3112:
3028:
2976:
2920:
2749:
2739:
2698:
2688:
2647:
2559:
2541:
2499:
2481:
2329:
2148:
2056:
1867:
1783:
1726:
1685:
1639:
1595:
1472:
1336:
1326:
844:Children and adults with NF-1 often have
3986:Attention deficit hyperactivity disorder
1433:"NF1 | Children's Tumor Foundation"
1397:(8): 622–626, discussion 626–9, 626–51.
910:. Surgery (primary), radiation therapy.
555:Attention deficit hyperactivity disorder
5852:Neuro-cardio-facial-cutaneous syndromes
5004:Malignant peripheral nerve sheath tumor
4928:Primary central nervous system lymphoma
4852:Dysembryoplastic neuroepithelial tumour
4172:Multiple complex developmental disorder
3327:. London: Chapman & Hall. 1.3.2:9.
3230:NEUROFIBROMATOSIS, TYPE I; NF1 - 162200
1292:- Image by Mikael Häggström, MD, using
1273:
885:malignant peripheral nerve sheath tumor
4253:Autism Diagnostic Observation Schedule
2728:Hereditary Cancer in Clinical Practice
2470:Neuropsychiatric Disease and Treatment
859:11 - 26% of people with NF1 also have
538:Neurobehavioral developmental disorder
447:there is an orthopedic surgery called
430:congenital pseudarthrosis of the tibia
320:and associated neurologic impairment.
2774:"Cancer Statistics Review, 1975-2012"
2581:
2579:
148:is sufficient for the development of
7:
5315:Neutrophil immunodeficiency syndrome
5198:Albright's hereditary osteodystrophy
4518:Encephalocraniocutaneous lipomatosis
3310:10.1001/archneur.1988.00520290115023
2882:10.1001/archderm.1991.01680100105014
2597:American Journal of Medical Genetics
2225:American Journal of Medical Genetics
1031:Inheritance and spontaneous mutation
977:gene is a negative regulator of the
5669:Signal transducing adaptor proteins
4690:Subependymal giant cell astrocytoma
4003:Developmental coordination disorder
3478:. U.S. National Library of Medicine
3241:Blackburn-Starzan A (9 June 2008).
3226:Online Mendelian Inheritance in Man
3142:The Journal of Biological Chemistry
1025:collapsin response mediator protein
231:Friedrich Daniel von Recklinghausen
5253:KRAS Cardiofaciocutaneous syndrome
5144:X-linked intellectual disability 1
5139:Juvenile primary lateral sclerosis
2007:10.1212/01.WNL.0000055090.78351.C1
1964:10.1212/01.wnl.0000179303.72345.ce
1543:Mountain States Genetic Foundation
1507:Mountain States Genetic Foundation
608:, other perineural cell lines, or
355:
25:
5600:Bannayan–Riley–Ruvalcaba syndrome
4452:Bannayan–Riley–Ruvalcaba syndrome
4263:Gilliam Asperger's disorder scale
4081:Fetal valproate spectrum disorder
3853:Childhood disintegrative disorder
3003:Gutmann DH, Giovannini M (2002).
2677:Orphanet Journal of Rare Diseases
1315:Indian Journal of Plastic Surgery
1077:preimplantation genetic diagnosis
965:which encodes a protein known as
51:
27:Type of neurofibromatosis disease
18:Von Recklinghausen's disease
5188:Progressive osseous heteroplasia
4878:Atypical teratoid rhabdoid tumor
3833:Pervasive developmental disorder
2150:10.1111/j.1601-183X.2011.00685.x
1294:source images by various authors
214:was in some cases confused with
187:, mental disabilities, multiple
5793:PRKCSH Polycystic liver disease
4498:Abdallat–Davis–Farrage syndrome
3472:"KOSELUGO- selumetinib capsule"
5779:Wolff–Parkinson–White syndrome
5183:Pseudopseudohypoparathyroidism
5082:GTP-binding protein regulators
4972:Cranial and paraspinal nerves
4284:Childhood Autism Spectrum Test
3177:Le LQ, Parada LF (July 2007).
1235:For many years it was thought
718:Central nervous system disease
1:
5387:Cardiofaciocutaneous syndrome
5335:Chylomicron retention disease
4685:Pleomorphic xanthoastrocytoma
4560:Tumours of the nervous system
4258:Childhood Autism Rating Scale
4106:PTEN hamartoma tumor syndrome
3996:obsessive–compulsive disorder
3928:Pathological demand avoidance
3812:Societal and cultural aspects
3354:Arquivos de Neuro-Psiquiatria
3066:10.1016/S0090-3019(97)00356-X
2778:SEER Cancer Statistics Review
2372:10.1080/13651501.2021.1921217
306:Musculoskeletal abnormalities
5629:X-linked myotubular myopathy
4730:Anaplastic oligodendroglioma
3543:10.3122/jabfm.2011.01.100219
3392:Pediatric Blood & Cancer
3323:Huson SM, Hughes RA (1994).
2969:10.1016/0888-7543(91)90017-9
2194:10.1177/08830738030180050501
1641:10.1097/MD9.0000000000000165
1280:- Source for main symptoms:
390:Reduced skeletal muscle size
167:, benign skin tumors called
5426:X-linked agammaglobulinemia
5270:Charcot–Marie–Tooth disease
4437:Multiple hamartoma syndrome
4248:Autism Diagnostic Interview
4018:Sensory processing disorder
3883:Autism and LGBTQ identities
1576:Journal of Medical Genetics
1136:(pigmented iris hamartomas)
987:pathway. It stimulates the
782:Focally degenerative myelin
409:mechanisms remain unknown.
118:von Recklinghausen syndrome
5878:
5129:Marinesco–Sjögren syndrome
4126:Tuberous sclerosis complex
4116:Smith–Lemli–Opitz syndrome
4091:MECP2 duplication syndrome
4071:Cornelia de Lange syndrome
4023:Global developmental delay
2543:10.1186/s13229-021-00481-3
2182:Journal of Child Neurology
1465:10.1038/s41436-021-01170-5
1403:10.1177/088307380201700813
1391:Journal of Child Neurology
1247:, a much rarer condition.
937:
805:
788:magnetic resonance imaging
778:and associated blindness.
767:
726:
692:Renal artery anomalies or
459:
416:
335:, which is referred to as
179:(curvature of the spine),
53:von Recklinghausen disease
29:
5817:
5737:Neurofibromatosis type II
5571:Pseudohypoaldosteronism 2
5298:Griscelli syndrome type 2
5091:GTPase-activating protein
5028:
4399:Von Hippel–Lindau disease
4205:Facilitated communication
4046:22q11.2 deletion syndrome
3461:. Accessed June 21, 2020.
3367:10.1590/0004-282X20130241
3273:"About Neurofibromatosis"
2741:10.1186/s13053-019-0110-z
2137:Genes, Brain and Behavior
1445:Graphical abstract from:
1257:Neurofibromatosis type II
883:can arise in the form of
404:NF-1 is a disease in the
393:Reduced exercise capacity
74:
65:
5605:Lhermitte–Duclos disease
5203:McCune–Albright syndrome
5193:Pseudohypoparathyroidism
5099:Neurofibromatosis type I
4857:Lhermitte–Duclos disease
4781:Choroid plexus carcinoma
4776:Choroid plexus papilloma
4457:Lhermitte–Duclos disease
4279:Autism-spectrum quotient
4096:Neurofibromatosis type I
3093:Human Molecular Genetics
1934:MedlinePlus Encyclopedia
1869:10.4103/2349-5847.196302
1764:Human Molecular Genetics
1545:. Denver. Archived from
1509:. Denver. Archived from
1172:, is a drug produced by
1039:NF-1 is inherited in an
861:Autism Spectrum Disorder
653:Nerve root neurofibroma.
323:Disorders affecting the
301:Musculoskeletal disorder
110:Neurofibromatosis type I
43:Neurofibromatosis type 1
32:osteitis fibrosa cystica
5363:Bardet–Biedl syndrome 3
4426:Pallister–Hall syndrome
4210:Lancet MMR autism fraud
4152:Critical autism studies
4051:22q13 deletion syndrome
4013:Intellectual disability
3963:Emotional dysregulation
3860:High-functioning autism
2870:Archives of Dermatology
2819:10.1126/science.2134734
696:and associated chronic
640:enlargement of a nerve.
274:is roughly as follows:
173:plexiform neurofibromas
5847:Neurological disorders
5511:Peutz–Jeghers syndrome
5497:Incontinentia pigmenti
5483:Li–Fraumeni syndrome 2
5134:Aarskog–Scott syndrome
4700:Anaplastic astrocytoma
4695:Fibrillary astrocytoma
4513:Peutz–Jeghers syndrome
4508:Incontinentia pigmenti
4422:Hypothalamic hamartoma
4220:Rapid prompting method
4162:Double empathy problem
4147:Autism rights movement
3304:(5): 575. 1 May 1988.
3195:10.1038/sj.onc.1210261
3155:10.1074/jbc.M503707200
3021:10.1038/sj.neo.7900249
2690:10.1186/1750-1172-6-18
1328:10.1055/s-0039-1693503
1182:gastrointestinal tract
1073:in vitro fertilisation
1044:
951:microdeletion syndrome
674:
620:Plexiform neurofibroma
578:Nervous system disease
438:limb-sparing technique
413:Facial bones and limbs
316:dysplasia, congenital
270:
262:
5615:Proteus-like syndrome
5469:Coffin-Lowry syndrome
4956:Esthesioneuroblastoma
4680:Pilocytic astrocytoma
4503:Ataxia telangiectasia
4394:Sturge–Weber syndrome
4305:Autism-related topics
3869:Associated conditions
3298:Archives of Neurology
2275:10.1093/neuros/nyz244
1856:Pigment International
1226:The Covenant of Water
1206:variable expressivity
1075:, it is possible via
1038:
672:
626:Solitary neurofibroma
591:Peripheral neuropathy
268:
261:characteristic of NF1
257:
181:learning disabilities
56:morbus Recklinghausen
5523:Myotonic dystrophy 1
4961:Ganglioneuroblastoma
4866:CNS embryonal tumors
4771:Choroid plexus tumor
4310:Fictional characters
4038:Associated syndromes
2427:10.4088/PCC.23m03514
2102:10.1002/ajmg.a.33235
1588:10.1136/jmg.39.5.311
1498:Viskochil D (2010).
1453:Genetics in Medicine
1087:spontaneous mutation
1079:to screen for NF-1.
1049:spontaneous mutation
1023:, and a second with
945:Neurofibromin 1 gene
4804:Gliomatosis cerebri
4187:Violence and autism
3973:Comorbid conditions
3710:Neurofibromatosis 1
3148:(47): 39524–39533.
2811:1990Sci...249..181W
1365:www.uchospitals.edu
1283:"Neurofibromatosis"
985:signal transduction
776:optic nerve gliomas
687:Other complications
630:computed tomography
523:Optic nerve gliomas
492:Dermal neurofibroma
5653:Metachondromatosis
5349:Joubert syndrome 8
5284:Carpenter syndrome
5119:Guanine nucleotide
5109:Tuberous sclerosis
4968:Nerve sheath tumor
4910:Hemangiopericytoma
4417:Tuberous sclerosis
4086:Fragile X syndrome
3893:Autistic catatonia
3665:External resources
3105:10.1093/hmg/ddl023
3054:Surgical Neurology
2922:10.1002/humu.21271
2915:(6): E1506–E1518.
2483:10.2147/NDT.S75038
2058:10.1111/dmcn.12043
1809:Muscle & Nerve
1776:10.1093/hmg/ddt515
1728:10.1111/dmcn.12777
1220:In popular culture
1128:Optic nerve glioma
1104:café-au-lait spots
1093:Post-natal testing
1045:
1041:autosomal dominant
867:Puberty and height
710:Optic nerve glioma
707:Plexiform fibromas
680:nerve sheath tumor
675:
665:Nerve sheath tumor
634:magnetic resonance
525:along one or both
354:Radiographically,
271:
263:
250:Signs and symptoms
200:germline mutations
142:autosomal dominant
5829:
5828:
5663:
5662:
5643:Noonan syndrome 1
5537:Seckel syndrome 1
5373:
5372:
5248:Noonan syndrome 3
5234:Costello syndrome
5152:
5151:
5042:
5041:
4981:Neurofibromatosis
4936:
4935:
4891:
4890:
4817:
4816:
4725:Oligodendroglioma
4623:
4622:
4590:Craniopharyngioma
4526:
4525:
4469:Neurofibromatosis
4344:
4343:
4241:Diagnostic scales
4131:Williams syndrome
4056:Angelman syndrome
3938:Special interests
3903:Autistic meltdown
3843:Asperger syndrome
3719:
3718:
3404:10.1002/pbc.29633
3334:978-0-412-38920-7
3253:on March 30, 2016
3189:(32): 4609–4616.
2876:(11): 1705–1707.
2840:"neurofibromin 1"
2805:(4965): 181–186.
2314:10.1111/cge.12551
2302:Clinical Genetics
1911:Piersall, Linda,
1821:10.1002/mus.23324
1534:Klesse L (2010).
1113:Freckling in the
792:Cerebral peduncle
259:Café au lait spot
107:
106:
37:Medical condition
16:(Redirected from
5869:
5862:Syndromic autism
5648:LEOPARD syndrome
5551:Oguchi disease 2
5452:Serine/threonine
5440:ZAP70 deficiency
5407:
5163:
5087:
5069:
5062:
5055:
5046:
5033:brain metastasis
4997:Acoustic neuroma
4799:Oligoastrocytoma
4792:Multiple/unknown
4663:
4654:
4634:
4608:
4583:
4573:
4553:
4546:
4539:
4530:
4442:Proteus syndrome
4371:
4364:
4357:
4348:
4336:Sensory friendly
4272:Screening scales
4121:Timothy syndrome
4028:Verbal Dyspraxia
3991:Anxiety disorder
3923:Nonverbal autism
3898:Autistic masking
3888:Autistic burnout
3746:
3739:
3732:
3723:
3576:
3564:
3563:
3545:
3521:
3515:
3514:
3512:
3511:
3505:Nerve Tumours UK
3502:
3493:
3487:
3486:
3484:
3483:
3468:
3462:
3455:
3449:
3448:
3446:
3445:
3430:
3424:
3423:
3386:
3380:
3379:
3369:
3345:
3339:
3338:
3320:
3314:
3313:
3293:
3287:
3286:
3284:
3283:
3269:
3263:
3262:
3260:
3258:
3249:. Archived from
3238:
3232:
3223:
3217:
3216:
3206:
3174:
3168:
3167:
3157:
3133:
3127:
3126:
3116:
3099:(7): 1087–1098.
3084:
3078:
3077:
3049:
3043:
3042:
3032:
3000:
2991:
2990:
2980:
2952:
2943:
2942:
2924:
2900:
2894:
2893:
2865:
2856:
2851:
2845:
2837:
2831:
2830:
2794:
2788:
2787:
2785:
2784:
2770:
2764:
2763:
2753:
2743:
2719:
2713:
2712:
2702:
2692:
2668:
2662:
2661:
2651:
2642:(9): 2746–2754.
2627:
2621:
2620:
2592:
2586:
2583:
2574:
2573:
2563:
2545:
2530:Molecular Autism
2520:
2514:
2513:
2503:
2485:
2461:
2455:
2454:
2406:
2400:
2399:
2350:
2344:
2343:
2333:
2293:
2287:
2286:
2258:
2249:
2248:
2220:
2214:
2213:
2177:
2171:
2170:
2152:
2128:
2122:
2121:
2085:
2079:
2078:
2060:
2036:
2027:
2026:
2001:(7): 1139–1145.
1990:
1984:
1983:
1958:(7): 1037–1044.
1947:
1941:
1930:
1924:
1913:David H. Gutmann
1909:
1903:
1902:
1900:
1899:
1890:. Archived from
1888:www.nwhealth.edu
1880:
1874:
1873:
1871:
1847:
1841:
1840:
1804:
1798:
1797:
1787:
1770:(5): 1250–1259.
1755:
1749:
1748:
1730:
1706:
1700:
1699:
1689:
1665:
1654:
1653:
1643:
1619:
1610:
1609:
1599:
1567:
1561:
1560:
1558:
1557:
1551:
1540:
1531:
1525:
1524:
1522:
1521:
1515:
1504:
1495:
1489:
1486:
1476:
1459:(8): 1506–1513.
1443:
1437:
1436:
1429:
1423:
1422:
1386:
1380:
1379:
1377:
1376:
1367:. Archived from
1357:
1351:
1350:
1340:
1330:
1306:
1297:
1290:
1278:
1245:Proteus syndrome
1239:, known as the
1230:Abraham Verghese
1123:inguinal regions
1065:Prenatal testing
1021:adenylyl cyclase
740:
694:pheochromocytoma
486:inguinal regions
244:
240:
228:
224:
213:
185:vision disorders
162:
155:
151:
147:
139:
135:
70:
40:
21:
5877:
5876:
5872:
5871:
5870:
5868:
5867:
5866:
5832:
5831:
5830:
5825:
5813:
5718:
5659:
5610:Cowden syndrome
5584:
5577:
5453:
5446:
5411:Tyrosine kinase
5391:
5369:
5212:
5148:
5121:exchange factor
5120:
5113:
5104:Watson syndrome
5076:
5073:
5043:
5038:
5037:
5024:
5008:
4932:
4914:
4887:
4873:Medulloblastoma
4861:
4823:
4813:
4787:
4757:
4734:
4717:Oligodendrocyte
4711:
4646:
4640:
4638:Neuroepithelial
4619:
4604:
4599:
4576:
4562:
4557:
4527:
4522:
4486:
4463:
4447:Cowden syndrome
4403:
4380:
4375:
4345:
4340:
4331:Autism-friendly
4319:
4293:
4267:
4236:
4191:
4135:
4101:Noonan syndrome
4061:CHARGE syndrome
4032:
3967:
3933:Savant syndrome
3870:
3864:
3821:
3802:Pathophysiology
3755:
3750:
3720:
3715:
3714:
3660:
3659:
3587:
3573:
3568:
3567:
3523:
3522:
3518:
3509:
3507:
3500:
3495:
3494:
3490:
3481:
3479:
3470:
3469:
3465:
3456:
3452:
3443:
3441:
3432:
3431:
3427:
3388:
3387:
3383:
3347:
3346:
3342:
3335:
3322:
3321:
3317:
3295:
3294:
3290:
3281:
3279:
3271:
3270:
3266:
3256:
3254:
3240:
3239:
3235:
3224:
3220:
3176:
3175:
3171:
3135:
3134:
3130:
3086:
3085:
3081:
3051:
3050:
3046:
3002:
3001:
2994:
2954:
2953:
2946:
2902:
2901:
2897:
2867:
2866:
2859:
2852:
2848:
2838:
2834:
2796:
2795:
2791:
2782:
2780:
2772:
2771:
2767:
2721:
2720:
2716:
2670:
2669:
2665:
2629:
2628:
2624:
2594:
2593:
2589:
2584:
2577:
2522:
2521:
2517:
2463:
2462:
2458:
2408:
2407:
2403:
2352:
2351:
2347:
2295:
2294:
2290:
2260:
2259:
2252:
2222:
2221:
2217:
2179:
2178:
2174:
2130:
2129:
2125:
2087:
2086:
2082:
2038:
2037:
2030:
1992:
1991:
1987:
1949:
1948:
1944:
1931:
1927:
1910:
1906:
1897:
1895:
1882:
1881:
1877:
1849:
1848:
1844:
1806:
1805:
1801:
1757:
1756:
1752:
1708:
1707:
1703:
1667:
1666:
1657:
1621:
1620:
1613:
1569:
1568:
1564:
1555:
1553:
1549:
1538:
1533:
1532:
1528:
1519:
1517:
1513:
1502:
1497:
1496:
1492:
1487:
1446:
1444:
1440:
1431:
1430:
1426:
1388:
1387:
1383:
1374:
1372:
1359:
1358:
1354:
1308:
1307:
1300:
1291:
1281:
1279:
1275:
1270:
1253:
1222:
1201:
1167:
1162:
1153:
1095:
1062:
1057:
1033:
1005:
975:Neurofibromin 1
947:
942:
940:Neurofibromin 1
936:
923:
878:
869:
842:
840:Neurodivergence
833:
810:
804:
784:
772:
766:
738:
731:
725:
720:
689:
667:
598:
593:
584:Schwannomatosis
580:
540:
509:
499:
464:
458:
434:Ilizarov method
421:
415:
303:
252:
242:
238:
226:
222:
216:Legius syndrome
211:
160:
153:
149:
145:
137:
133:
122:neurofibromin 1
38:
35:
28:
23:
22:
15:
12:
11:
5:
5875:
5873:
5865:
5864:
5859:
5854:
5849:
5844:
5834:
5833:
5827:
5826:
5818:
5815:
5814:
5812:
5811:
5810:
5809:
5797:
5796:
5795:
5783:
5782:
5781:
5769:
5768:
5767:
5765:Carney complex
5755:
5754:
5753:
5741:
5740:
5739:
5726:
5724:
5720:
5719:
5717:
5716:
5715:
5714:
5702:
5701:
5700:
5688:
5687:
5686:
5673:
5671:
5665:
5664:
5661:
5660:
5658:
5657:
5656:
5655:
5650:
5645:
5633:
5632:
5631:
5619:
5618:
5617:
5612:
5607:
5602:
5589:
5587:
5579:
5578:
5576:
5575:
5574:
5573:
5555:
5554:
5553:
5541:
5540:
5539:
5527:
5526:
5525:
5515:
5514:
5513:
5501:
5500:
5499:
5487:
5486:
5485:
5473:
5472:
5471:
5458:
5456:
5448:
5447:
5445:
5444:
5443:
5442:
5430:
5429:
5428:
5415:
5413:
5404:
5393:
5392:
5390:
5389:
5383:
5381:
5375:
5374:
5371:
5370:
5368:
5367:
5366:
5365:
5353:
5352:
5351:
5339:
5338:
5337:
5320:
5319:
5318:
5317:
5303:
5302:
5301:
5300:
5288:
5287:
5286:
5274:
5273:
5272:
5258:
5257:
5256:
5255:
5250:
5238:
5237:
5236:
5222:
5220:
5214:
5213:
5211:
5210:
5205:
5200:
5195:
5190:
5185:
5171:
5169:
5160:
5154:
5153:
5150:
5149:
5147:
5146:
5141:
5136:
5131:
5125:
5123:
5115:
5114:
5112:
5111:
5106:
5101:
5095:
5093:
5084:
5078:
5077:
5074:
5072:
5071:
5064:
5057:
5049:
5040:
5039:
5029:
5026:
5025:
5023:
5022:
5016:
5014:
5010:
5009:
5007:
5006:
5001:
5000:
4999:
4985:
4984:
4983:
4978:
4970:
4965:
4964:
4963:
4958:
4947:
4945:
4938:
4937:
4934:
4933:
4931:
4930:
4924:
4922:
4916:
4915:
4913:
4912:
4907:
4901:
4899:
4893:
4892:
4889:
4888:
4886:
4885:
4880:
4875:
4869:
4867:
4863:
4862:
4860:
4859:
4854:
4849:
4844:
4842:Retinoblastoma
4839:
4833:Ganglioneuroma
4829:
4827:
4819:
4818:
4815:
4814:
4812:
4811:
4806:
4801:
4795:
4793:
4789:
4788:
4786:
4785:
4784:
4783:
4778:
4767:
4765:
4763:Choroid plexus
4759:
4758:
4756:
4755:
4750:
4744:
4742:
4736:
4735:
4733:
4732:
4727:
4721:
4719:
4713:
4712:
4710:
4709:
4708:
4707:
4702:
4697:
4692:
4687:
4682:
4671:
4669:
4660:
4651:
4631:
4625:
4624:
4621:
4620:
4618:
4617:
4611:
4609:
4601:
4600:
4598:
4597:
4592:
4586:
4584:
4570:
4564:
4563:
4558:
4556:
4555:
4548:
4541:
4533:
4524:
4523:
4521:
4520:
4515:
4510:
4505:
4500:
4494:
4492:
4488:
4487:
4485:
4484:
4479:
4473:
4471:
4465:
4464:
4462:
4461:
4460:
4459:
4454:
4449:
4444:
4434:
4432:Megalencephaly
4429:
4419:
4413:
4411:
4405:
4404:
4402:
4401:
4396:
4390:
4388:
4382:
4381:
4376:
4374:
4373:
4366:
4359:
4351:
4342:
4341:
4339:
4338:
4333:
4327:
4325:
4324:Accommodations
4321:
4320:
4318:
4317:
4312:
4307:
4301:
4299:
4295:
4294:
4292:
4291:
4286:
4281:
4275:
4273:
4269:
4268:
4266:
4265:
4260:
4255:
4250:
4244:
4242:
4238:
4237:
4235:
4234:
4233:
4232:
4222:
4217:
4212:
4207:
4201:
4199:
4193:
4192:
4190:
4189:
4184:
4182:TEACCH program
4179:
4177:Neurodiversity
4174:
4169:
4164:
4159:
4157:Discrimination
4154:
4149:
4143:
4141:
4140:Related issues
4137:
4136:
4134:
4133:
4128:
4123:
4118:
4113:
4108:
4103:
4098:
4093:
4088:
4083:
4078:
4073:
4068:
4066:Cohen syndrome
4063:
4058:
4053:
4048:
4042:
4040:
4034:
4033:
4031:
4030:
4025:
4020:
4015:
4010:
4005:
4000:
3999:
3998:
3988:
3983:
3977:
3975:
3969:
3968:
3966:
3965:
3960:
3955:
3950:
3945:
3940:
3935:
3930:
3925:
3920:
3915:
3910:
3905:
3900:
3895:
3890:
3885:
3880:
3874:
3872:
3866:
3865:
3863:
3862:
3857:
3856:
3855:
3850:
3845:
3840:
3838:Classic autism
3829:
3827:
3823:
3822:
3820:
3819:
3814:
3809:
3807:Sex and gender
3804:
3799:
3794:
3789:
3784:
3779:
3774:
3769:
3763:
3761:
3757:
3756:
3751:
3749:
3748:
3741:
3734:
3726:
3717:
3716:
3713:
3712:
3701:
3681:
3669:
3668:
3666:
3662:
3661:
3658:
3657:
3646:
3635:
3624:
3609:
3588:
3583:
3582:
3580:
3579:Classification
3572:
3571:External links
3569:
3566:
3565:
3536:(1): 112–114.
3516:
3488:
3463:
3450:
3425:
3381:
3360:(3): 241–250.
3340:
3333:
3315:
3288:
3264:
3233:
3218:
3169:
3128:
3079:
3060:(2): 211–218.
3044:
3015:(4): 279–290.
2992:
2963:(4): 931–940.
2944:
2909:Human Mutation
2895:
2857:
2846:
2832:
2789:
2765:
2714:
2663:
2622:
2587:
2575:
2515:
2456:
2401:
2366:(4): 350–355.
2345:
2308:(5): 425–430.
2288:
2269:(5): 646–655.
2250:
2215:
2188:(5): 338–342.
2172:
2143:(4): 404–409.
2123:
2096:(2): 284–290.
2080:
2051:(2): 139–145.
2028:
1985:
1942:
1925:
1917:Rosalie Ferner
1904:
1875:
1842:
1815:(3): 394–399.
1799:
1750:
1721:(8): 733–736.
1701:
1680:(2): 161–170.
1655:
1611:
1582:(5): 311–314.
1562:
1526:
1490:
1438:
1424:
1381:
1352:
1298:
1272:
1271:
1269:
1266:
1265:
1264:
1259:
1252:
1249:
1237:Joseph Merrick
1224:In the novel "
1221:
1218:
1200:
1197:
1196:
1195:
1192:
1166:
1163:
1161:
1160:Drug Therapies
1158:
1152:
1149:
1148:
1147:
1144:
1141:pseudarthrosis
1137:
1130:
1125:
1111:
1108:
1094:
1091:
1061:
1058:
1056:
1053:
1032:
1029:
1008:respectively.
1004:
1001:
971:cell signaling
946:
943:
938:Main article:
935:
932:
922:
919:
918:
917:
911:
905:
895:
877:
874:
868:
865:
864:
863:
857:
841:
838:
832:
829:
806:Main article:
803:
800:
783:
780:
768:Main article:
765:
762:
761:
760:
754:
748:
742:
727:Main article:
724:
721:
719:
716:
715:
714:
711:
708:
705:
700:
688:
685:
684:
683:
666:
663:
662:
661:
654:
651:
641:
623:
597:
594:
592:
589:
579:
576:
575:
574:
568:
561:
558:
552:
539:
536:
535:
534:
520:
508:
505:
504:
503:
497:
489:
475:
457:
454:
453:
452:
449:epiphysiodesis
444:
441:
426:pseudarthrosis
414:
411:
398:
397:
394:
391:
375:
374:
363:
352:
343:
308:affecting the
302:
299:
298:
297:
294:
291:
288:
285:
282:
279:
251:
248:
105:
104:
101:
97:
96:
83:
77:
76:
72:
71:
63:
62:
61:
60:
57:
54:
49:
45:
44:
36:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
5874:
5863:
5860:
5858:
5855:
5853:
5850:
5848:
5845:
5843:
5840:
5839:
5837:
5824:
5823:
5816:
5808:
5805:
5804:
5803:
5802:
5798:
5794:
5791:
5790:
5789:
5788:
5784:
5780:
5777:
5776:
5775:
5774:
5770:
5766:
5763:
5762:
5761:
5760:
5756:
5752:
5749:
5748:
5747:
5746:
5742:
5738:
5735:
5734:
5733:
5732:
5728:
5727:
5725:
5721:
5713:
5710:
5709:
5708:
5707:
5703:
5699:
5696:
5695:
5694:
5693:
5689:
5685:
5682:
5681:
5680:
5679:
5675:
5674:
5672:
5670:
5666:
5654:
5651:
5649:
5646:
5644:
5641:
5640:
5639:
5638:
5634:
5630:
5627:
5626:
5625:
5624:
5620:
5616:
5613:
5611:
5608:
5606:
5603:
5601:
5598:
5597:
5596:
5595:
5591:
5590:
5588:
5586:
5580:
5572:
5569:
5568:
5567:
5566:
5561:
5560:
5556:
5552:
5549:
5548:
5547:
5546:
5542:
5538:
5535:
5534:
5533:
5532:
5528:
5524:
5521:
5520:
5519:
5516:
5512:
5509:
5508:
5507:
5506:
5502:
5498:
5495:
5494:
5493:
5492:
5488:
5484:
5481:
5480:
5479:
5478:
5474:
5470:
5467:
5466:
5465:
5464:
5460:
5459:
5457:
5455:
5449:
5441:
5438:
5437:
5436:
5435:
5431:
5427:
5424:
5423:
5422:
5421:
5417:
5416:
5414:
5412:
5408:
5405:
5403:
5399:
5394:
5388:
5385:
5384:
5382:
5380:
5376:
5364:
5361:
5360:
5359:
5358:
5354:
5350:
5347:
5346:
5345:
5344:
5340:
5336:
5333:
5332:
5331:
5330:
5325:
5322:
5321:
5316:
5313:
5312:
5311:
5310:
5305:
5304:
5299:
5296:
5295:
5294:
5293:
5289:
5285:
5282:
5281:
5280:
5279:
5275:
5271:
5268:
5267:
5266:
5265:
5260:
5259:
5254:
5251:
5249:
5246:
5245:
5244:
5243:
5239:
5235:
5232:
5231:
5230:
5229:
5224:
5223:
5221:
5219:
5215:
5209:
5206:
5204:
5201:
5199:
5196:
5194:
5191:
5189:
5186:
5184:
5180:
5176:
5173:
5172:
5170:
5168:
5167:Heterotrimeic
5164:
5161:
5159:
5155:
5145:
5142:
5140:
5137:
5135:
5132:
5130:
5127:
5126:
5124:
5122:
5116:
5110:
5107:
5105:
5102:
5100:
5097:
5096:
5094:
5092:
5088:
5085:
5083:
5079:
5070:
5065:
5063:
5058:
5056:
5051:
5050:
5047:
5036:
5034:
5027:
5021:
5018:
5017:
5015:
5011:
5005:
5002:
4998:
4995:
4994:
4993:
4989:
4986:
4982:
4979:
4977:
4974:
4973:
4971:
4969:
4966:
4962:
4959:
4957:
4954:
4953:
4952:
4951:Neuroblastoma
4949:
4948:
4946:
4943:
4939:
4929:
4926:
4925:
4923:
4921:
4920:Hematopoietic
4917:
4911:
4908:
4906:
4903:
4902:
4900:
4898:
4894:
4884:
4881:
4879:
4876:
4874:
4871:
4870:
4868:
4864:
4858:
4855:
4853:
4850:
4848:
4845:
4843:
4840:
4838:
4837:Ganglioglioma
4834:
4831:
4830:
4828:
4826:
4820:
4810:
4807:
4805:
4802:
4800:
4797:
4796:
4794:
4790:
4782:
4779:
4777:
4774:
4773:
4772:
4769:
4768:
4766:
4764:
4760:
4754:
4753:Subependymoma
4751:
4749:
4746:
4745:
4743:
4741:
4737:
4731:
4728:
4726:
4723:
4722:
4720:
4718:
4714:
4706:
4703:
4701:
4698:
4696:
4693:
4691:
4688:
4686:
4683:
4681:
4678:
4677:
4676:
4673:
4672:
4670:
4668:
4664:
4661:
4659:
4655:
4652:
4649:
4648:spinal tumors
4644:
4639:
4635:
4632:
4630:
4626:
4616:
4613:
4612:
4610:
4607:
4602:
4596:
4593:
4591:
4588:
4587:
4585:
4582:
4580:
4574:
4571:
4569:
4565:
4561:
4554:
4549:
4547:
4542:
4540:
4535:
4534:
4531:
4519:
4516:
4514:
4511:
4509:
4506:
4504:
4501:
4499:
4496:
4495:
4493:
4489:
4483:
4480:
4478:
4475:
4474:
4472:
4470:
4466:
4458:
4455:
4453:
4450:
4448:
4445:
4443:
4440:
4439:
4438:
4435:
4433:
4430:
4427:
4423:
4420:
4418:
4415:
4414:
4412:
4410:
4406:
4400:
4397:
4395:
4392:
4391:
4389:
4387:
4383:
4379:
4372:
4367:
4365:
4360:
4358:
4353:
4352:
4349:
4337:
4334:
4332:
4329:
4328:
4326:
4322:
4316:
4313:
4311:
4308:
4306:
4303:
4302:
4300:
4296:
4290:
4287:
4285:
4282:
4280:
4277:
4276:
4274:
4270:
4264:
4261:
4259:
4256:
4254:
4251:
4249:
4246:
4245:
4243:
4239:
4231:
4228:
4227:
4226:
4223:
4221:
4218:
4216:
4213:
4211:
4208:
4206:
4203:
4202:
4200:
4198:
4197:Controversies
4194:
4188:
4185:
4183:
4180:
4178:
4175:
4173:
4170:
4168:
4165:
4163:
4160:
4158:
4155:
4153:
4150:
4148:
4145:
4144:
4142:
4138:
4132:
4129:
4127:
4124:
4122:
4119:
4117:
4114:
4112:
4111:Rett syndrome
4109:
4107:
4104:
4102:
4099:
4097:
4094:
4092:
4089:
4087:
4084:
4082:
4079:
4077:
4076:Down syndrome
4074:
4072:
4069:
4067:
4064:
4062:
4059:
4057:
4054:
4052:
4049:
4047:
4044:
4043:
4041:
4039:
4035:
4029:
4026:
4024:
4021:
4019:
4016:
4014:
4011:
4009:
4006:
4004:
4001:
3997:
3994:
3993:
3992:
3989:
3987:
3984:
3982:
3979:
3978:
3976:
3974:
3970:
3964:
3961:
3959:
3956:
3954:
3951:
3949:
3946:
3944:
3941:
3939:
3936:
3934:
3931:
3929:
3926:
3924:
3921:
3919:
3916:
3914:
3911:
3909:
3906:
3904:
3901:
3899:
3896:
3894:
3891:
3889:
3886:
3884:
3881:
3879:
3876:
3875:
3873:
3871:and phenomena
3867:
3861:
3858:
3854:
3851:
3849:
3846:
3844:
3841:
3839:
3836:
3835:
3834:
3831:
3830:
3828:
3824:
3818:
3815:
3813:
3810:
3808:
3805:
3803:
3800:
3798:
3795:
3793:
3790:
3788:
3785:
3783:
3780:
3778:
3775:
3773:
3770:
3768:
3765:
3764:
3762:
3758:
3754:
3747:
3742:
3740:
3735:
3733:
3728:
3727:
3724:
3711:
3707:
3706:
3702:
3700:
3697:
3694:
3691:
3687:
3686:
3682:
3680:
3676:
3675:
3671:
3670:
3667:
3663:
3656:
3652:
3651:
3647:
3645:
3641:
3640:
3636:
3634:
3630:
3629:
3625:
3623:
3619:
3618:
3614:
3610:
3607:
3603:
3599:
3598:
3594:
3590:
3589:
3586:
3581:
3577:
3570:
3561:
3557:
3553:
3549:
3544:
3539:
3535:
3531:
3527:
3520:
3517:
3506:
3499:
3492:
3489:
3477:
3473:
3467:
3464:
3460:
3454:
3451:
3440:
3436:
3429:
3426:
3421:
3417:
3413:
3409:
3405:
3401:
3398:(8): e29633.
3397:
3393:
3385:
3382:
3377:
3373:
3368:
3363:
3359:
3355:
3351:
3344:
3341:
3336:
3330:
3326:
3319:
3316:
3311:
3307:
3303:
3299:
3292:
3289:
3278:
3274:
3268:
3265:
3252:
3248:
3244:
3237:
3234:
3231:
3227:
3222:
3219:
3214:
3210:
3205:
3200:
3196:
3192:
3188:
3184:
3180:
3173:
3170:
3165:
3161:
3156:
3151:
3147:
3143:
3139:
3132:
3129:
3124:
3120:
3115:
3110:
3106:
3102:
3098:
3094:
3090:
3083:
3080:
3075:
3071:
3067:
3063:
3059:
3055:
3048:
3045:
3040:
3036:
3031:
3026:
3022:
3018:
3014:
3010:
3006:
2999:
2997:
2993:
2988:
2984:
2979:
2978:2027.42/29018
2974:
2970:
2966:
2962:
2958:
2951:
2949:
2945:
2940:
2936:
2932:
2928:
2923:
2918:
2914:
2910:
2906:
2899:
2896:
2891:
2887:
2883:
2879:
2875:
2871:
2864:
2862:
2858:
2855:
2850:
2847:
2844:
2841:
2836:
2833:
2828:
2824:
2820:
2816:
2812:
2808:
2804:
2800:
2793:
2790:
2779:
2775:
2769:
2766:
2761:
2757:
2752:
2747:
2742:
2737:
2733:
2729:
2725:
2718:
2715:
2710:
2706:
2701:
2696:
2691:
2686:
2682:
2678:
2674:
2667:
2664:
2659:
2655:
2650:
2645:
2641:
2637:
2633:
2626:
2623:
2618:
2614:
2610:
2606:
2602:
2598:
2591:
2588:
2582:
2580:
2576:
2571:
2567:
2562:
2557:
2553:
2549:
2544:
2539:
2535:
2531:
2527:
2519:
2516:
2511:
2507:
2502:
2497:
2493:
2489:
2484:
2479:
2475:
2471:
2467:
2460:
2457:
2452:
2448:
2444:
2440:
2436:
2432:
2428:
2424:
2420:
2416:
2412:
2405:
2402:
2397:
2393:
2389:
2385:
2381:
2377:
2373:
2369:
2365:
2361:
2357:
2349:
2346:
2341:
2337:
2332:
2327:
2323:
2319:
2315:
2311:
2307:
2303:
2299:
2292:
2289:
2284:
2280:
2276:
2272:
2268:
2264:
2257:
2255:
2251:
2246:
2242:
2238:
2234:
2230:
2226:
2219:
2216:
2211:
2207:
2203:
2199:
2195:
2191:
2187:
2183:
2176:
2173:
2168:
2164:
2160:
2156:
2151:
2146:
2142:
2138:
2134:
2127:
2124:
2119:
2115:
2111:
2107:
2103:
2099:
2095:
2091:
2084:
2081:
2076:
2072:
2068:
2064:
2059:
2054:
2050:
2046:
2042:
2035:
2033:
2029:
2024:
2020:
2016:
2012:
2008:
2004:
2000:
1996:
1989:
1986:
1981:
1977:
1973:
1969:
1965:
1961:
1957:
1953:
1946:
1943:
1940:
1936:
1935:
1929:
1926:
1922:
1918:
1914:
1908:
1905:
1894:on 2016-03-04
1893:
1889:
1885:
1879:
1876:
1870:
1865:
1861:
1857:
1853:
1846:
1843:
1838:
1834:
1830:
1826:
1822:
1818:
1814:
1810:
1803:
1800:
1795:
1791:
1786:
1781:
1777:
1773:
1769:
1765:
1761:
1754:
1751:
1746:
1742:
1738:
1734:
1729:
1724:
1720:
1716:
1712:
1705:
1702:
1697:
1693:
1688:
1683:
1679:
1675:
1671:
1664:
1662:
1660:
1656:
1651:
1647:
1642:
1637:
1633:
1629:
1625:
1618:
1616:
1612:
1607:
1603:
1598:
1593:
1589:
1585:
1581:
1577:
1573:
1566:
1563:
1552:on 2012-03-09
1548:
1544:
1537:
1530:
1527:
1516:on 2015-11-06
1512:
1508:
1501:
1494:
1491:
1484:
1480:
1475:
1470:
1466:
1462:
1458:
1454:
1450:
1442:
1439:
1434:
1428:
1425:
1420:
1416:
1412:
1408:
1404:
1400:
1396:
1392:
1385:
1382:
1371:on 2015-09-07
1370:
1366:
1362:
1356:
1353:
1348:
1344:
1339:
1334:
1329:
1324:
1320:
1316:
1312:
1305:
1303:
1299:
1295:
1289:. 2021-01-21.
1288:
1284:
1277:
1274:
1267:
1263:
1260:
1258:
1255:
1254:
1250:
1248:
1246:
1242:
1238:
1233:
1231:
1227:
1219:
1217:
1215:
1209:
1207:
1198:
1193:
1190:
1189:
1188:
1185:
1183:
1178:
1175:
1171:
1164:
1159:
1157:
1150:
1145:
1142:
1138:
1135:
1134:Lisch nodules
1131:
1129:
1126:
1124:
1120:
1116:
1112:
1109:
1105:
1101:
1100:
1099:
1092:
1090:
1088:
1083:
1080:
1078:
1074:
1071:produced via
1070:
1066:
1059:
1054:
1052:
1050:
1042:
1037:
1030:
1028:
1026:
1022:
1017:
1015:
1009:
1002:
1000:
996:
994:
990:
986:
983:
980:
976:
972:
968:
967:neurofibromin
964:
963:chromosome 17
960:
956:
952:
944:
941:
933:
931:
928:
927:breast cancer
921:Breast Cancer
920:
915:
912:
909:
906:
903:
899:
896:
893:
890:
889:
888:
886:
882:
875:
873:
866:
862:
858:
855:
854:
853:
851:
847:
839:
837:
831:Mental Health
830:
828:
826:
825:Acetazolamide
822:
819:
815:
809:
808:Dural ectasia
802:Dural ectasia
801:
799:
797:
793:
789:
781:
779:
777:
771:
763:
758:
755:
752:
749:
746:
743:
736:
733:
732:
730:
722:
717:
712:
709:
706:
704:
701:
699:
695:
691:
690:
686:
681:
677:
676:
671:
664:
659:
655:
652:
649:
645:
642:
639:
635:
631:
627:
624:
621:
618:
617:
616:
613:
611:
607:
606:Schwann cells
603:
595:
590:
588:
585:
577:
572:
569:
566:
562:
559:
556:
553:
550:
546:
545:
544:
537:
532:
528:
524:
521:
518:
514:
513:Lisch nodules
511:
510:
506:
501:
493:
490:
487:
483:
479:
476:
473:
471:
466:
465:
463:
455:
450:
445:
442:
439:
435:
431:
427:
423:
422:
420:
412:
410:
407:
402:
395:
392:
389:
388:
387:
384:
380:
379:
372:
368:
364:
361:
357:
356:dural ectasia
353:
351:
347:
344:
341:
338:
334:
330:
329:
328:
326:
321:
319:
318:hydrocephalus
315:
314:sphenoid bone
311:
307:
300:
295:
292:
289:
286:
283:
280:
277:
276:
275:
267:
260:
256:
249:
247:
234:
232:
219:
217:
209:
205:
204:neurofibromin
201:
196:
194:
190:
186:
182:
178:
174:
170:
169:neurofibromas
166:
165:Lisch nodules
157:
143:
131:
130:chromosome 17
127:
123:
119:
115:
111:
102:
98:
95:
94:ophthalmology
91:
87:
84:
82:
78:
73:
69:
64:
58:
55:
52:
50:
46:
41:
33:
19:
5819:
5799:
5785:
5771:
5757:
5743:
5729:
5704:
5690:
5676:
5635:
5621:
5592:
5563:
5557:
5543:
5529:
5503:
5489:
5475:
5461:
5432:
5418:
5355:
5341:
5327:
5307:
5290:
5276:
5262:
5240:
5226:
5098:
5030:
4988:Neurilemmoma
4976:Neurofibroma
4705:Glioblastoma
4643:brain tumors
4605:
4577:
4476:
4386:Angiomatosis
4378:Phakomatosis
4095:
3787:Heritability
3777:Epidemiology
3703:
3683:
3672:
3648:
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2263:Neurosurgery
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1369:the original
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1241:Elephant Man
1234:
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1174:Astra Zeneca
1168:
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1132:Two or more
1102:Six or more
1096:
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953:caused by a
948:
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834:
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811:
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773:
764:Glial tumors
756:
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744:
734:
698:hypertension
614:
602:neurofibroma
599:
596:Neurofibroma
581:
541:
531:optic chiasm
527:optic nerves
470:café au lait
469:
403:
399:
385:
381:
377:
376:
350:Spina bifida
346:Meningoceles
322:
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272:
237:people with
235:
220:
197:
189:café au lait
158:
117:
113:
109:
108:
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5857:RASopathies
5585:phosphatase
5402:phosphatase
4847:Neurocytoma
4809:Gliosarcoma
4675:Astrocytoma
4595:Pituicytoma
4215:MMR vaccine
3943:Infodumping
3918:Monotropism
3913:Late talker
3878:Alexithymia
3782:Epigenetics
3705:GeneReviews
3674:MedlinePlus
2476:: 815–821.
1287:Mayo Clinic
1170:Selumetinib
1165:Selumetinib
1107:conditions.
770:Glial tumor
644:Schwannomas
610:fibroblasts
507:Eye disease
360:diverticula
100:Usual onset
90:dermatology
48:Other names
5836:Categories
5712:Zaspopathy
5379:MAP kinase
4992:Schwannoma
4905:Meningioma
4748:Ependymoma
4225:Thiomersal
4167:Employment
3958:Echopraxia
3908:Hyperlexia
3650:DiseasesDB
3510:2021-04-27
3482:2023-11-15
3444:2020-06-21
3282:2020-03-05
3277:Genome.gov
2783:2023-11-15
1898:2015-10-27
1862:(2): 102.
1556:2011-05-15
1520:2011-05-15
1375:2015-10-27
1321:(2): 260.
1268:References
1119:Crowe sign
949:NF-1 is a
735:Occurrence
703:Schwannoma
565:cerebellar
460:See also:
417:See also:
337:mesodermal
191:spots and
124:(NF-1), a
5820:See also
5698:Cherubism
5218:Monomeric
5158:G protein
4667:Astrocyte
4615:Pinealoma
4568:Endocrine
4409:Hamartoma
4230:Chelation
3953:Echolalia
3826:Diagnoses
3817:Therapies
3772:Diagnosis
3699:radio/474
3693:neuro/248
3685:eMedicine
3552:1557-2625
3420:247453317
3009:Neoplasia
2843:GeneCards
2734:(1): 12.
2552:2040-2392
2492:1176-6328
2451:263240202
2435:2155-7780
2396:235999769
2380:1471-1788
2322:0009-9163
1995:Neurology
1952:Neurology
1650:2691-3895
1199:Prognosis
1151:Treatment
1055:Diagnosis
1003:Structure
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367:scoliosis
340:dysplasia
327:include:
208:RASopathy
177:scoliosis
146:NF-1 gene
81:Specialty
5583:Tyrosine
4897:Meninges
4740:Ependyma
4008:Epilepsy
3948:Stimming
3690:derm/287
3608:Q85.010)
3560:21209351
3476:DailyMed
3412:35289492
3376:24676443
3228:(OMIM):
3213:17297459
3183:Oncogene
3164:16169856
3123:16513807
3074:10029430
3039:12082543
2957:Genomics
2939:24525378
2931:20513137
2760:30962859
2709:21542925
2617:10469434
2570:34983638
2536:(1): 3.
2510:25848279
2443:37816254
2388:34270353
2340:25534182
2283:31350851
2245:10469435
2210:39229702
2202:12822818
2167:19609654
2159:21352477
2118:26650152
2110:20101681
2075:11781870
2067:23163236
2023:26812237
2015:12682321
1980:10198510
1972:16217056
1915:, &
1837:21120799
1829:22907230
1794:24163128
1745:38835893
1737:25913846
1696:26032208
1606:12011145
1483:34012067
1419:20385802
1411:12403561
1347:31602150
1251:See also
1115:axillary
1016:kinase.
982:oncogene
955:mutation
751:Etiology
729:Epilepsy
723:Epilepsy
713:Epilepsy
648:resected
638:fusiform
573:deficit.
371:kyphosis
312:include
193:epilepsy
103:At birth
5759:PRKAR1A
5751:CADASIL
5745:Notch 3
5678:EDARADD
5463:RPS6KA3
4482:Type II
4315:Schools
3792:History
3696:oph/338
3644:D009456
3257:May 16,
3247:BioNews
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3030:1531708
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2331:4573679
1785:3954124
1687:5133719
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636:) as a
571:Spatial
529:or the
515:in the
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480:of the
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5787:PRKCSH
5773:PRKAG2
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5637:PTPN11
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5398:kinase
5396:Other
5343:ARL13B
4825:neuron
4822:Mature
4658:Glioma
4606:Other:
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4477:Type I
3797:Memory
3767:Causes
3753:Autism
3679:000847
3633:162200
3622:237.71
3558:
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2636:Cancer
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989:GTPase
973:. The
881:Cancer
876:Cancer
846:Autism
796:myelin
549:autism
500:lasers
365:Focal
116:), or
5807:XIAP2
5723:Other
5505:STK11
5491:IKBKG
5477:CHEK2
5434:ZAP70
5329:SAR1B
5306:RHO:
5292:RAB27
5278:RAB23
5261:RAB:
5225:RAS:
5208:CGL 2
5179:GNAS1
5013:Other
4491:Other
4298:Lists
3602:Q85.0
3501:(PDF)
3416:S2CID
2935:S2CID
2447:S2CID
2392:S2CID
2206:S2CID
2163:S2CID
2114:S2CID
2071:S2CID
2019:S2CID
1976:S2CID
1833:S2CID
1741:S2CID
1550:(PDF)
1539:(PDF)
1514:(PDF)
1503:(PDF)
1415:S2CID
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1121:) or
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472:spots
436:as a
333:fetus
325:spine
310:skull
5801:XIAP
5706:LDB3
5623:MTM1
5594:PTEN
5565:WNK1
5559:WNK4
5545:GRK1
5518:DMPK
5357:ARL6
5309:RAC2
5264:RAB7
5242:KRAS
5228:HRAS
5175:cAMP
3760:Main
3655:8937
3639:MeSH
3628:OMIM
3617:9-CM
3606:ILDS
3556:PMID
3548:ISSN
3408:PMID
3372:PMID
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3259:2011
3209:PMID
3160:PMID
3119:PMID
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2927:PMID
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2823:PMID
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2241:PMID
2198:PMID
2155:PMID
2106:PMID
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2063:PMID
2011:PMID
1968:PMID
1825:PMID
1790:PMID
1733:PMID
1692:PMID
1646:ISSN
1602:PMID
1479:PMID
1407:PMID
1343:PMID
959:gene
850:ADHD
814:dura
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517:iris
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243:NF-1
239:NF-1
227:NF-1
223:NF-1
212:NF-1
161:NF-1
154:NF-1
150:NF-1
138:NF-1
134:NF-1
126:gene
114:NF-1
5731:NF2
5531:ATR
5420:BTK
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4629:CNS
3613:ICD
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3400:doi
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3306:doi
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3146:280
3109:PMC
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