249:. In the 281 persons followed by the Bloom Syndrome Registry, 145 persons (51.6%) have been diagnosed with a malignant neoplasm, and there have been 227 malignancies. The types of cancer and the anatomic sites at which they develop resemble the cancers that affect persons in the general population. The age of diagnosis for these cancers is earlier than for the same cancer in normal persons, and many persons with Bloom syndrome have been diagnosed with multiple cancers. The average life span is approximately 27 years. The most common cause of death in Bloom syndrome is from cancer. Other complications of the disorder include
318:. As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome. The mutations in BLM associated with Bloom syndrome are nulls and missense mutations that are catalytically inactive. The cells from persons with Bloom syndrome exhibit a striking genomic instability that is characterized by hyper-recombination and hyper-mutation. Human BLM cells are sensitive to DNA damaging agents such as UV and methyl methanesulfonate, indicating deficient repair capability. At the level of the chromosomes, the rate of
465:(the two DNA molecules that are produced by the DNA replication process); and there are increases in chromosome breakage and rearrangements compared to persons who do not have Bloom's syndrome. Direct connections between the molecular processes in which BLM operates and the chromosomes themselves are under investigation. The relationships between molecular defects in Bloom syndrome cells, the chromosome mutations that accumulate in somatic cells (the cells of the body), and the many clinical features seen in Bloom syndrome are also areas of intense research.
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160:, that is characterized by dilated blood vessels at the skin's surface. The rash commonly also affects the backs of the hands and neck, and it can develop on any other sun-exposed areas of the skin. The rash is variably expressed, being present in a majority but not all persons with Bloom syndrome, and it is on average less severe in females than in males. Moreover, the sun sensitivity can resolve in adulthood. There are other dermatologic changes, including
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The Bloom's
Syndrome Registry lists 283 individuals reported to have this rare disorder (as of 2020), collected from the time it was first recognized in 1954. The registry was developed as a surveillance mechanism to observe the effects of cancer in the patients, which has shown 122 individuals have
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in affected individuals. The cancer predisposition is characterized by 1) broad spectrum, including leukemias, lymphomas, and carcinomas, 2) early age of onset relative to the same cancer in the general population, and 3) multiplicity, that is, synchronous or metachronous cancers. There is at least
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The BLM helicase is a member of a protein complex with topoisomerase III alpha, RMI1 and RMI2, also known as BTRR, Bloom
Syndrome complex or the dissolvasome. Disruption of the proper assembly of the Bloom Syndrome complex leads to genome stability, genetic dependence on cellular nucleases GEN1 and
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at nucleoli DNA helicases are enzymes that attach to DNA and temporarily unravel the double helix of the DNA molecule. DNA helicases function in DNA replication and DNA repair. BLM very likely functions in DNA replication, as cells from persons with Bloom syndrome exhibit multiple defects in DNA
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in Bloom's syndrome is approximately 10 fold higher than normal and quadriradial figures, which are the cytologic manifestations of crossing-over between homologous chromosome, are highly elevated. Other chromosome manifestations include chromatid breaks and gaps, telomere associations, and
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is important in maintaining the stability of the DNA during the replication process. Lack of BLM protein or protein activity leads to an increase in mutations; however, the molecular mechanism(s) by which BLM maintains stability of the chromosomes is still a very active area of research.
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and middle ear infections in persons with the syndrome. Infants can exhibit frequent gastrointestinal upsets, with reflux, vomiting, and diarrhea, and there is a remarkable lack in interest in food. There are endocrine disturbances, particularly abnormalities of
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The most prominent feature of Bloom syndrome is proportional small size. The small size is apparent in utero. At birth, neonates exhibit rostral to caudal lengths, head circumferences, and birth weights that are typically below the third percentile.
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Bloom syndrome is an extremely rare disorder in most populations and the frequency of the disease has not been measured in most populations. However, the disorder is relatively more common amongst people of
Central and Eastern European
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The second most commonly noted feature is a rash on the face that develops early in life as a result of sun exposure. The facial rash appears most prominently on the cheeks, nose, and around the lips. It is described as
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one person with Bloom syndrome who had five independent primary cancers. Persons with Bloom syndrome may develop cancer at any age. The average age of cancer diagnoses in the cohort is approximately 26 years old.
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Hodson, Charlotte; Low, Jason K. K.; van Twest, Sylvie; Jones, Samuel E.; Swuec, Paolo; Murphy, Vincent; Tsukada, Kaima; Fawkes, Matthew; Bythell-Douglas, Rohan; Davies, Adelina; Holien, Jessica K. (2022-02-08).
1976:
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125:, respectively. More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both and by cancer predisposition.
283:. The features of BSLD include small size and dermatologic findings, such as cafe-au-lait spots, and the presence of the once pathognomonic elevated SCEs is reported for persons with mutations in
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Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993). Margaret P Adam; Holly H Ardinger; Roberta A Pagon; Stephanie E Wallace; et al. (eds.).
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Bloom syndrome is diagnosed using any of three tests - the presence of quadriradial (Qr, a four-armed chromatid interchange) in cultured blood lymphocytes, and/or the elevated levels of
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There is a closely related entity that is now referred to as Bloom-syndrome-like disorder (BSLD) which is caused by mutations in components of the same protein complex to which the
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When a cell prepares to divide to form two cells, the chromosomes are duplicated so that each new cell will get a complete set of chromosomes. The duplication process is called
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235:) in females. Despite these reductions, several women with Bloom syndrome have had children, and there is a single report of a male with Bloom syndrome bearing children.
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Ben Salah, G; et al. (Nov 2014). "A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members".
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Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and
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MUS81, and loss of normal cell growth. Bloom-like phenotypes have been associated with mutations in topoisomerase III alpha, RMI1 and RMI2 genes.
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Li L, Eng C, Desnick B, German J, Ellis NA (1998). "Carrier frequency of the Bloom syndrome blmAsh mutation in the
Ashkenazi Jewish population".
227:. Persons with Bloom syndrome exhibit a paucity of subcutaneous fat. There is reduced fertility, characterized by a failure in males to produce
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2064:
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Diaz, A; et al. (Jun 9, 2006). "Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome".
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As noted above, there is greatly elevated rate of mutation in Bloom syndrome and the genomic instability is associated with a high risk of
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Although some persons with Bloom syndrome can struggle in school with subjects that require abstract thought, there is no evidence that
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German, James; Bloom, David; Passarge, Eberhard (23 April 2008). "Bloom's syndrome. V. Surveillance for cancer in affected families".
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Kristian Moss
Bendtsen; Martin Borch Jensen; Alfred May; Lene Juel Rasmussen; Ala Trusina; Vilhelm A. Bohr; Mogens H. Jensen (2014).
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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene
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493:. The test is designed to identify healthy individuals who carry a gene that could cause Bloom Syndrome in their offspring.
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Bloom D (1954). "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity".
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been diagnosed with cancer. It also acts as a report to show current findings and data on all aspects of the disorder.
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1386:"Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability"
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There is a characteristic facial appearance that includes a long, narrow face; prominent nose, cheeks, and ears; and
489:(FDA) announced on February 19, 2015, that they have authorized marketing of a direct-to-consumer genetic test from
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Crystal structure of the Bloom's syndrome helicase BLM, gray, in complex with DNA, shown in color (PDB ID: 4CGZ).
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There are a variety of other features that are commonly associated with Bloom syndrome. There is a moderate
132:(SCEs). The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954.
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509:. Efforts to minimize exposure to other known environmental mutagens are also advisable in multiple forms.
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194:, characterized by deficiency in certain immunoglobulin classes and a generalized proliferative defect of
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Ellis NA, Groden J, Ye TZ, Straughen J, Ciocci S, Lennon DJ, Proytcheva M, Alhadeff B, German J (1995).
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There are a variety of excellent sources for more detailed clinical information about Bloom syndrome.
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possibly because there is overlap in the function of the proteins mutated in this related disorder.
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are affected by Bloom syndrome, who account for about one-third of affected individuals worldwide.
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Flanagan M, Cunniff CM (February 14, 2019) . Adam MP, Ardinger HH, Pagon RA, et al. (eds.).
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fragmented chromosomes. The hyper-recombination can also be detected by molecular assays The
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1607:"FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome"
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Keller, C; et al. (Apr 1999). "Growth deficiency and malnutrition in Bloom syndrome".
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851:"Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition"
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1228:"Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome"
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2007:
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1013:"FANCM connects the genome instability disorders Bloom syndrome and Fanconi Anemia"
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Bloom syndrome has no specific treatment; however, avoiding sun exposure and using
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1957:
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1287:"Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli"
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Persons with Bloom syndrome have an enormous increase in exchange events between
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
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Proceedings of the
National Academy of Sciences of the United States of America
1103:"Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome Registry"
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replication, and they are sensitive to agents that obstruct DNA replication.
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913:"Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome"
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Bloom syndrome metaphase cells exhibit frequent sister chromatid exchanges.
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family. Mutations in genes encoding other members of this family, namely
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412:{\displaystyle \textstyle {\tfrac {\mathrm {\mu m} ^{2}}{\mathrm {s} }}}
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Cunniff, Christopher; Bassetti, Jennifer A.; Ellis, Nathan A. (2017).
756:
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Template:Congenital malformations and deformations of skin appendages
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696:"Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease"
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246:
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characterized by short stature, predisposition to the development of
1500:
German J (Jan 1997). "Bloom's syndrome. XX. The first 100 cancers".
1152:"Genetic interactions between BLM and DNA ligase IV in human cells"
1054:"The Bloom's syndrome gene product is homologous to RecQ helicases"
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in cells of any type, and/or the mutation in the BLM gene. The US
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Bloom syndrome has an autosomal recessive pattern of inheritance.
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449:. Errors made during DNA replication can lead to mutations. The
275:
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The most serious and frequent complication of Bloom syndrome is
202:. The immune deficiency is thought to be the cause of recurrent
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2529:
Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
1972:
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can help prevent some of the cutaneous changes associated with
42:
829:
827:
825:
367:{\displaystyle {\tfrac {\mathrm {\mu m} ^{2}}{\mathrm {s} }}}
135:
Bloom syndrome has also appeared in the older literature as
95:, and genomic instability. BS is caused by mutations in the
327:
gene encodes a member of the protein family referred to as
231:(azoospermia) and premature cessation of menses (premature
179:
or undersized jaw. The voice is high-pitched and squeaky.
172:, which can appear on the face and on the ocular surface.
1453:"Mutations in TOP3A Cause a Bloom Syndrome-like Disorder"
964:"Mutations in TOP3A Cause a Bloom Syndrome-like Disorder"
2944:
Congenital hypertrophy of the lateral fold of the hallux
1226:
Langlois RG, Bigbee WL, Jensen RH, German J (Jan 1989).
2812:
Template:DNA replication and repair-deficiency disorder
1549:
Bythell-Douglas, Rohan; Deans, Andrew J. (2021-02-04).
242:
is more common in Bloom syndrome than in other people.
634:
James, William; Berger, Timothy; Elston, Dirk (2005).
383:
381:
339:
1664:"Bloom Syndrome - Symptoms, Causes, Treatment | NORD"
1101:
German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA (2007).
380:
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2014:
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911:Hudson, Damien F.; et al. (15 December 2016).
636:
54:
35:
1551:"A Structural Guide to the Bloom Syndrome Complex"
411:
366:
2428:Diffuse nonepidermolytic palmoplantar keratoderma
331:. The diffusion of BLM has been measured to 1.34
2152:Nonbullous congenital ichthyosiform erythroderma
3562:DNA replication and repair-deficiency disorders
2617:Palmoplantar keratoderma and spastic paraplegia
1688:"Data from the Bloom's Syndrome Registry, 2009"
1451:Martin, Carol-Anne; et al. (August 2018).
833:
3512:DNA replication and repair-deficiency disorder
2423:Diffuse epidermolytic palmoplantar keratoderma
1336:"The Dissolution of Double Holliday Junctions"
3322:
3064:
2954:Congenital malformations of the dermatoglyphs
1984:
1334:Bizard, A. H.; Hickson, I. D. (1 July 2014).
906:
904:
522:Jewish background. Approximately 1 in 48,000
8:
1150:So S, Adachi N, Lieber MR, Koyama H (2004).
117:, are associated with the clinical entities
1536:"Bloom Syndrome Registry | Pediatrics"
3499:Marfanoid–progeroid–lipodystrophy syndrome
3350:
3329:
3315:
3307:
3149:
3071:
3057:
3049:
2979:Melanotic neuroectodermal tumor of infancy
2830:
2716:Keratosis follicularis spinulosa decalvans
2406:
2147:Ichthyosis–sclerosing cholangitis syndrome
2034:
2020:
1991:
1977:
1969:
1822:
1796:. Seattle (WA): University of Washington.
1763:. Seattle (WA): University of Washington.
1340:Cold Spring Harbor Perspectives in Biology
65:
41:
32:
3205:Hereditary nonpolyposis colorectal cancer
2939:Congenital cartilaginous rest of the neck
2534:Focal palmoplantar and gingival keratosis
1566:
1476:
1427:
1409:
1359:
1310:
1261:
1251:
1191:German J (Jan 1995). "Bloom's syndrome".
1167:
1118:
1069:
1028:
987:
938:
928:
884:
866:
711:
400:
394:
386:
382:
379:
356:
350:
342:
338:
336:
294:Bloom syndrome shares some features with
3004:Rapidly involuting congenital hemangioma
2594:Keratosis punctata of the palmar creases
2589:Keratosis punctata palmaris et plantaris
2460:Clouston's hidrotic ectodermal dysplasia
638:(10th ed.). Saunders. p. 575.
601:American Journal of Diseases of Children
576:
101:gene which is a member of the RecQ DNA
1457:The American Journal of Human Genetics
2065:Congenital ichthyosiform erythroderma
7:
3423:Hutchinson–Gilford progeria syndrome
2726:Keratosis pilaris atrophicans faciei
2311:Dermatopathia pigmentosa reticularis
1694:. Weill Cornell Medical Center. 2009
844:
842:
694:German, James M.D. (November 1993).
613:10.1001/archpedi.1954.02050100756008
3557:IUIS-PID table 3 immunodeficiencies
1609:. U.S. Food and Drug Administration
1011:Deans AJ, West SC (December 2009).
584:Online Mendelian Inheritance in Man
3019:Superficial lymphatic malformation
2964:Congenital smooth muscle hamartoma
2433:Palmoplantar keratoderma of Sybert
2002:malformations and deformations of
1727:10.1111/j.1399-0004.1977.tb00919.x
401:
390:
357:
346:
25:
2491:Scleroatrophic syndrome of Huriez
2321:Hypohidrotic ectodermal dysplasia
529:
186:An individual with Bloom syndrome
3582:Diseases named after discoverers
3532:Chromosome instability syndromes
3292:Severe combined immunodeficiency
2604:Porokeratosis plantaris discreta
2561:Striate palmoplantar keratoderma
713:10.1097/00005792-199311000-00003
428:Relationship to cancer and aging
263:gene product belongs, including
251:chronic obstructive lung disease
156:, that is red and inflamed, and
3215:Mismatch repair cancer syndrome
3029:Verrucous vascular malformation
2959:Congenital preauricular fistula
2929:Accessory nail of the fifth toe
2806:Template:Pigmentation disorders
2599:Schöpf–Schulz–Passarge syndrome
2579:Acrokeratoelastoidosis of Costa
2284:Laryngoonychocutaneous syndrome
2157:Ichthyosis linearis circumflexa
2142:Ichthyosis prematurity syndrome
962:Martin CA, et al. (2018).
3088:DNA repair-deficiency disorder
2643:Erythrokeratodermia variabilis
2554:Pachyonychia congenita type II
1:
3542:Autosomal recessive disorders
2969:Cystic lymphatic malformation
2922:Cavernous venous malformation
2549:Pachyonychia congenita type I
2472:Corneodermatoosseous syndrome
2132:Ichthyosis bullosa of Siemens
1692:Weill Cornell Medical College
1514:10.1016/s0165-4608(96)00336-6
1205:10.1016/S0733-8635(18)30101-3
834:Flanagan & Cunniff (2019)
673:10.1016/s0022-3476(99)70206-4
137:Bloom–Torre–Machacek syndrome
3459:DeSanctis–Cacchione syndrome
3166:DeSanctis–Cacchione syndrome
3112:Aicardi–Goutières syndrome 4
2377:Popliteal pterygium syndrome
2069:Epidermolytic hyperkeratosis
1071:10.1016/0092-8674(95)90105-1
1030:10.1016/j.molcel.2009.12.006
930:10.1371/journal.pgen.1006483
588:Bloom Syndrome; BLM - 210900
487:Food and Drug Administration
3577:Syndromes affecting stature
3009:Rosenthal–Kloepfer syndrome
2994:Omphalomesenteric duct cyst
2711:Keratolytic winter erythema
2371:Gerodermia osteodysplastica
1352:10.1101/cshperspect.a016477
1291:European Biophysics Journal
164:and hyper-pigmented areas,
3598:
3464:Nijmegen breakage syndrome
3238:Nijmegen breakage syndrome
3154:Nucleotide excision repair
2584:Focal acral hyperkeratosis
2331:Ellis–van Creveld syndrome
1469:10.1016/j.ajhg.2018.07.001
980:10.1016/j.ajhg.2018.07.001
130:sister chromatid exchanges
3507:
3373:Rothmund–Thomson syndrome
3271:Rothmund–Thomson syndrome
2508:Papillon–Lefèvre syndrome
2079:Harlequin-type ichthyosis
1568:10.1016/j.str.2020.11.020
1303:10.1007/s00249-014-0981-x
800:10.1007/s11033-014-3624-5
545:Accelerated aging disease
530:Bloom's Syndrome Registry
483:sister chromatid exchange
374:in nucleoplasm and 0.13
320:sister chromatid exchange
273:, topoisomerase 3 alpha,
123:Rothmund–Thomson syndrome
83:in literature) is a rare
49:
40:
2382:Pseudoxanthoma elasticum
2098:Sjögren–Larsson syndrome
1232:Proc Natl Acad Sci U S A
3437:Other/related disorders
3103:Separation/initiation:
2907:Aplasia cutis congenita
2326:Focal dermal hypoplasia
2289:Skin fragility syndrome
2137:Ichthyosis follicularis
1965:Genetics Home Reference
1411:10.1073/pnas.2109093119
240:intellectual disability
209:carbohydrate metabolism
3474:Dyskeratosis congenita
3454:Baller–Gerold syndrome
3428:Restrictive dermopathy
3383:NER protein-associated
3133:Dyskeratosis congenita
3024:Thyroglossal duct cyst
2989:Nasolacrimal duct cyst
2912:Amniotic band syndrome
2706:Dyskeratosis congenita
2694:Dyskeratosis congenita
2544:Pachyonychia congenita
2455:Bart–Pumphrey syndrome
2387:Van der Woude syndrome
2362:Ehlers–Danlos syndrome
1642:10.1006/mgme.1998.2733
1502:Cancer Genet Cytogenet
1169:10.1074/jbc.M409827200
855:Molecular Syndromology
473:
459:homologous chromosomes
413:
368:
311:
215:and susceptibility to
187:
79:(often abbreviated as
3572:Syndromes with tumors
3552:Ashkenazi Jews topics
3479:Ataxia telangiectasia
3396:Xeroderma pigmentosum
3233:Ataxia–telangiectasia
3176:Xeroderma pigmentosum
2889:Nevus flammeus nuchae
2800:Template:Phakomatoses
2772:Hereditary lymphedema
2336:Rapp–Hodgkin syndrome
2025:Congenital ichthyosis
1253:10.1073/pnas.86.2.670
550:Bloom syndrome (gene)
471:
414:
369:
309:
253:and type 2 diabetes.
185:
3444:Li–Fraumeni syndrome
3287:Li–Fraumeni syndrome
2879:Capillary hemangioma
2781:Urticaria pigmentosa
2539:Howel–Evans syndrome
2299:Ectodermal dysplasia
2240:Generalized atrophic
378:
335:
271:type I topoisomerase
269:, which encodes the
3567:Progeroid syndromes
3449:Rapadilino syndrome
3401:Trichothiodystrophy
3338:Progeroid syndromes
3275:RAPADILINO syndrome
3210:Muir–Torre syndrome
3197:DNA mismatch repair
2566:Tyrosinemia type II
2116:X-linked ichthyosis
2074:Lamellar ichthyosis
2047:Ichthyosis vulgaris
2030:erythrokeratodermia
1402:2022PNAS..11909093H
1244:1989PNAS...86..670L
2949:Congenital lip pit
2513:Haim–Munk syndrome
2465:Vohwinkel syndrome
2340:Hay–Wells syndrome
2316:Hay–Wells syndrome
2162:Ichthyosis hystrix
2088:Netherton syndrome
1907:External resources
1396:(6): e2109093119.
1120:10.1002/humu.20501
474:
409:
408:
406:
364:
362:
312:
223:, and compensated
213:insulin resistance
188:
166:cafe-au-lait spots
3519:
3518:
3489:PIBI(D)S syndrome
3484:De Barsy syndrome
3409:
3408:
3391:Cockayne syndrome
3304:
3303:
3300:
3299:
3162:Cockayne syndrome
3080:Metabolic disease
3046:
3045:
3042:
3041:
2974:Median raphe cyst
2934:Bronchogenic cyst
2856:PHACE association
2820:
2819:
2739:
2738:
2731:Keratosis pilaris
2675:Keratosis pilaris
2629:Carvajal syndrome
2609:Spiny keratoderma
2274:Costello syndrome
2170:
2169:
1952:
1951:
1715:Clinical Genetics
1297:(10–11): 509–16.
868:10.1159/000452082
794:(11): 7373–7380.
757:10.1159/000093826
645:978-0-7216-2921-6
507:photo-sensitivity
463:sister chromatids
405:
361:
192:immune deficiency
74:
73:
30:Medical condition
16:(Redirected from
3589:
3351:
3331:
3324:
3317:
3308:
3150:
3073:
3066:
3059:
3050:
2861:Sinus pericranii
2831:
2687:Darier's disease
2496:Olmsted syndrome
2407:
2307:Naegeli syndrome
2279:Kindler syndrome
2035:
2021:
1993:
1986:
1979:
1970:
1932:Bloom's Syndrome
1823:
1813:
1779:
1777:
1775:
1757:"Bloom syndrome"
1747:
1746:
1710:
1704:
1703:
1701:
1699:
1684:
1678:
1677:
1675:
1674:
1668:rarediseases.org
1660:
1654:
1653:
1625:
1619:
1618:
1616:
1614:
1603:
1597:
1596:
1570:
1546:
1540:
1539:
1532:
1526:
1525:
1497:
1491:
1490:
1480:
1448:
1442:
1441:
1431:
1413:
1380:
1374:
1373:
1363:
1331:
1325:
1324:
1314:
1282:
1276:
1275:
1265:
1255:
1223:
1217:
1216:
1188:
1182:
1181:
1171:
1162:(53): 55433–42.
1147:
1141:
1140:
1122:
1098:
1092:
1091:
1073:
1049:
1043:
1042:
1032:
1008:
1002:
1001:
991:
959:
953:
952:
942:
932:
923:(12). e1006483.
908:
899:
898:
888:
870:
846:
837:
831:
820:
819:
783:
777:
776:
740:
734:
733:
715:
691:
685:
684:
656:
650:
649:
631:
625:
624:
596:
590:
581:
418:
416:
415:
410:
407:
404:
399:
398:
393:
384:
373:
371:
370:
365:
363:
360:
355:
354:
349:
340:
89:genetic disorder
70:
69:
61:Medical genetics
45:
33:
27:Genetic disorder
21:
3597:
3596:
3592:
3591:
3590:
3588:
3587:
3586:
3522:
3521:
3520:
3515:
3503:
3432:
3405:
3377:
3363:Werner syndrome
3355:RecQ-associated
3340:
3335:
3305:
3296:
3266:Werner syndrome
3242:
3219:
3187:
3139:
3096:DNA replication
3090:
3084:DNA replication
3077:
3047:
3038:
2900:Other/ungrouped
2895:
2884:Port-wine stain
2865:
2826:
2816:
2735:
2658:
2400:
2391:
2344:
2293:
2178:
2166:
2120:
2102:
2051:
2028:
2010:
1997:
1953:
1948:
1947:
1902:
1901:
1834:
1820:
1789:
1786:
1784:Further reading
1773:
1771:
1754:
1751:
1750:
1712:
1711:
1707:
1697:
1695:
1686:
1685:
1681:
1672:
1670:
1662:
1661:
1657:
1630:Mol Genet Metab
1627:
1626:
1622:
1612:
1610:
1605:
1604:
1600:
1548:
1547:
1543:
1534:
1533:
1529:
1499:
1498:
1494:
1450:
1449:
1445:
1382:
1381:
1377:
1333:
1332:
1328:
1284:
1283:
1279:
1225:
1224:
1220:
1190:
1189:
1185:
1149:
1148:
1144:
1100:
1099:
1095:
1051:
1050:
1046:
1010:
1009:
1005:
961:
960:
956:
910:
909:
902:
848:
847:
840:
832:
823:
785:
784:
780:
742:
741:
737:
693:
692:
688:
658:
657:
653:
646:
633:
632:
628:
598:
597:
593:
582:
578:
573:
541:
532:
515:
499:
479:
447:DNA replication
443:
441:Pathophysiology
430:
385:
376:
375:
341:
333:
332:
304:
217:type 2 diabetes
170:telangiectasias
145:
119:Werner syndrome
64:
31:
28:
23:
22:
15:
12:
11:
5:
3595:
3593:
3585:
3584:
3579:
3574:
3569:
3564:
3559:
3554:
3549:
3547:Rare syndromes
3544:
3539:
3537:Genodermatoses
3534:
3524:
3523:
3517:
3516:
3508:
3505:
3504:
3502:
3501:
3496:
3491:
3486:
3481:
3476:
3471:
3469:Fanconi anemia
3466:
3461:
3456:
3451:
3446:
3440:
3438:
3434:
3433:
3431:
3430:
3425:
3419:
3417:
3411:
3410:
3407:
3406:
3404:
3403:
3398:
3393:
3387:
3385:
3379:
3378:
3376:
3375:
3370:
3368:Bloom syndrome
3365:
3359:
3357:
3348:
3342:
3341:
3336:
3334:
3333:
3326:
3319:
3311:
3302:
3301:
3298:
3297:
3295:
3294:
3289:
3284:
3282:Fanconi anemia
3279:
3278:
3277:
3268:
3263:
3261:Bloom syndrome
3250:
3248:
3244:
3243:
3241:
3240:
3235:
3229:
3227:
3221:
3220:
3218:
3217:
3212:
3207:
3201:
3199:
3189:
3188:
3186:
3185:
3183:IBIDS syndrome
3180:
3179:
3178:
3168:
3158:
3156:
3147:
3141:
3140:
3138:
3137:
3136:
3135:
3117:
3116:
3115:
3114:
3100:
3098:
3092:
3091:
3078:
3076:
3075:
3068:
3061:
3053:
3044:
3043:
3040:
3039:
3037:
3036:
3031:
3026:
3021:
3016:
3011:
3006:
3001:
2999:Poland anomaly
2996:
2991:
2986:
2984:Mongolian spot
2981:
2976:
2971:
2966:
2961:
2956:
2951:
2946:
2941:
2936:
2931:
2925:
2924:
2919:
2917:Branchial cyst
2914:
2909:
2903:
2901:
2897:
2896:
2894:
2893:
2892:
2891:
2881:
2875:
2873:
2867:
2866:
2864:
2863:
2858:
2853:
2848:
2843:
2837:
2835:
2828:
2822:
2821:
2818:
2817:
2791:
2790:
2785:
2784:
2783:
2774:
2762:
2761:
2760:
2747:
2745:
2741:
2740:
2737:
2736:
2734:
2733:
2728:
2723:
2718:
2713:
2708:
2702:
2701:
2699:Lelis syndrome
2696:
2691:
2690:
2689:
2677:
2672:
2670:Meleda disease
2666:
2664:
2660:
2659:
2657:
2656:
2655:
2654:
2645:
2633:
2632:
2631:
2619:
2612:
2611:
2606:
2601:
2596:
2591:
2586:
2581:
2571:
2570:
2569:
2568:
2563:
2558:
2557:
2556:
2551:
2541:
2536:
2531:
2522:
2520:Camisa disease
2517:
2516:
2515:
2510:
2498:
2493:
2488:
2487:
2486:
2484:Naxos syndrome
2474:
2469:
2468:
2467:
2462:
2457:
2441:
2440:
2438:Meleda disease
2435:
2430:
2425:
2415:
2413:
2404:
2397:Hyperkeratosis
2393:
2392:
2390:
2389:
2384:
2379:
2374:
2364:
2358:
2356:
2346:
2345:
2343:
2342:
2333:
2328:
2323:
2318:
2313:
2303:
2301:
2295:
2294:
2292:
2291:
2286:
2281:
2276:
2269:
2268:
2267:
2266:
2261:
2250:
2249:
2248:
2247:
2242:
2237:
2232:
2221:
2220:
2219:
2218:
2213:
2208:
2203:
2198:
2193:
2182:
2180:
2172:
2171:
2168:
2167:
2165:
2164:
2159:
2154:
2149:
2144:
2139:
2134:
2128:
2126:
2122:
2121:
2119:
2118:
2112:
2110:
2104:
2103:
2101:
2100:
2095:
2093:CHIME syndrome
2090:
2084:
2083:
2082:
2081:
2071:
2061:
2059:
2053:
2052:
2050:
2049:
2043:
2041:
2032:
2018:
2016:Genodermatosis
2012:
2011:
1998:
1996:
1995:
1988:
1981:
1973:
1967:
1966:
1958:Bloom syndrome
1950:
1949:
1946:
1945:
1934:
1923:
1911:
1910:
1908:
1904:
1903:
1900:
1899:
1888:
1877:
1866:
1851:
1835:
1830:
1829:
1827:
1826:Classification
1819:
1818:External links
1816:
1815:
1814:
1785:
1782:
1781:
1780:
1749:
1748:
1721:(3): 162–168.
1705:
1679:
1655:
1636:(4): 286–290.
1620:
1598:
1541:
1527:
1492:
1463:(2): 221–231.
1443:
1375:
1346:(7): a016477.
1326:
1277:
1218:
1183:
1142:
1113:(8): 743–753.
1107:Human Mutation
1093:
1064:(4): 655–666.
1044:
1003:
974:(2): 221–231.
968:Am J Hum Genet
954:
900:
838:
821:
778:
751:(3): 111–117.
735:
706:(6): 393–406.
686:
667:(4): 472–479.
651:
644:
626:
591:
575:
574:
572:
569:
568:
567:
562:
557:
552:
547:
540:
537:
531:
528:
524:Ashkenazi Jews
514:
511:
498:
495:
478:
475:
442:
439:
429:
426:
403:
397:
392:
389:
359:
353:
348:
345:
329:RecQ helicases
303:
300:
296:Fanconi anemia
225:hypothyroidism
162:hypo-pigmented
158:telangiectatic
144:
141:
77:Bloom syndrome
72:
71:
58:
52:
51:
47:
46:
38:
37:
36:Bloom syndrome
29:
26:
24:
18:Bloom Syndrome
14:
13:
10:
9:
6:
4:
3:
2:
3594:
3583:
3580:
3578:
3575:
3573:
3570:
3568:
3565:
3563:
3560:
3558:
3555:
3553:
3550:
3548:
3545:
3543:
3540:
3538:
3535:
3533:
3530:
3529:
3527:
3514:
3513:
3506:
3500:
3497:
3495:
3494:BIDS syndrome
3492:
3490:
3487:
3485:
3482:
3480:
3477:
3475:
3472:
3470:
3467:
3465:
3462:
3460:
3457:
3455:
3452:
3450:
3447:
3445:
3442:
3441:
3439:
3435:
3429:
3426:
3424:
3421:
3420:
3418:
3416:
3412:
3402:
3399:
3397:
3394:
3392:
3389:
3388:
3386:
3384:
3380:
3374:
3371:
3369:
3366:
3364:
3361:
3360:
3358:
3356:
3352:
3349:
3347:
3343:
3339:
3332:
3327:
3325:
3320:
3318:
3313:
3312:
3309:
3293:
3290:
3288:
3285:
3283:
3280:
3276:
3272:
3269:
3267:
3264:
3262:
3259:
3258:
3257:
3256:
3255:RecQ helicase
3252:
3251:
3249:
3245:
3239:
3236:
3234:
3231:
3230:
3228:
3226:
3222:
3216:
3213:
3211:
3208:
3206:
3203:
3202:
3200:
3198:
3194:
3190:
3184:
3181:
3177:
3174:
3173:
3172:
3171:Thymine dimer
3169:
3167:
3163:
3160:
3159:
3157:
3155:
3151:
3148:
3146:
3142:
3134:
3131:
3130:
3129:
3128:
3123:
3119:
3118:
3113:
3110:
3109:
3108:
3107:
3102:
3101:
3099:
3097:
3093:
3089:
3085:
3081:
3074:
3069:
3067:
3062:
3060:
3055:
3054:
3051:
3035:
3032:
3030:
3027:
3025:
3022:
3020:
3017:
3015:
3012:
3010:
3007:
3005:
3002:
3000:
2997:
2995:
2992:
2990:
2987:
2985:
2982:
2980:
2977:
2975:
2972:
2970:
2967:
2965:
2962:
2960:
2957:
2955:
2952:
2950:
2947:
2945:
2942:
2940:
2937:
2935:
2932:
2930:
2927:
2926:
2923:
2920:
2918:
2915:
2913:
2910:
2908:
2905:
2904:
2902:
2898:
2890:
2887:
2886:
2885:
2882:
2880:
2877:
2876:
2874:
2872:
2868:
2862:
2859:
2857:
2854:
2852:
2849:
2847:
2846:Encephalocele
2844:
2842:
2839:
2838:
2836:
2832:
2829:
2825:Developmental
2823:
2815:
2814:
2813:
2808:
2807:
2802:
2801:
2797:
2789:
2788:Hailey–Hailey
2786:
2782:
2778:
2775:
2773:
2770:
2769:
2768:
2767:
2766:immune system
2763:
2759:
2756:
2755:
2754:
2753:
2749:
2748:
2746:
2742:
2732:
2729:
2727:
2724:
2722:
2719:
2717:
2714:
2712:
2709:
2707:
2704:
2703:
2700:
2697:
2695:
2692:
2688:
2685:
2684:
2683:
2682:
2678:
2676:
2673:
2671:
2668:
2667:
2665:
2661:
2653:
2649:
2646:
2644:
2641:
2640:
2639:
2638:
2634:
2630:
2627:
2626:
2625:
2624:
2620:
2618:
2614:
2613:
2610:
2607:
2605:
2602:
2600:
2597:
2595:
2592:
2590:
2587:
2585:
2582:
2580:
2576:
2573:
2572:
2567:
2564:
2562:
2559:
2555:
2552:
2550:
2547:
2546:
2545:
2542:
2540:
2537:
2535:
2532:
2530:
2526:
2523:
2521:
2518:
2514:
2511:
2509:
2506:
2505:
2504:
2503:
2499:
2497:
2494:
2492:
2489:
2485:
2482:
2481:
2480:
2479:
2475:
2473:
2470:
2466:
2463:
2461:
2458:
2456:
2453:
2452:
2451:
2450:
2446:
2445:
2443:
2442:
2439:
2436:
2434:
2431:
2429:
2426:
2424:
2420:
2417:
2416:
2414:
2412:
2408:
2405:
2403:
2402:keratinopathy
2398:
2394:
2388:
2385:
2383:
2380:
2378:
2375:
2372:
2368:
2365:
2363:
2360:
2359:
2357:
2355:
2351:
2347:
2341:
2337:
2334:
2332:
2329:
2327:
2324:
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2026:
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2019:
2017:
2013:
2009:
2005:
2001:
1994:
1989:
1987:
1982:
1980:
1975:
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1971:
1964:
1960:
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1955:
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1924:
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1608:
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1599:
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1586:
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1578:
1574:
1569:
1564:
1561:(2): 99–113.
1560:
1556:
1552:
1545:
1542:
1537:
1531:
1528:
1523:
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1511:
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1193:Dermatol Clin
1187:
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1165:
1161:
1157:
1156:J. Biol. Chem
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1072:
1067:
1063:
1059:
1055:
1048:
1045:
1040:
1036:
1031:
1026:
1023:(6): 943–53.
1022:
1018:
1014:
1007:
1004:
999:
995:
990:
985:
981:
977:
973:
969:
965:
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739:
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395:
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351:
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321:
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292:
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230:
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210:
205:
201:
197:
193:
184:
180:
178:
177:micrognathism
173:
171:
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159:
155:
149:
142:
140:
138:
133:
131:
126:
124:
120:
116:
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100:
99:
94:
90:
86:
82:
78:
68:
62:
59:
57:
53:
48:
44:
39:
34:
19:
3509:
3367:
3260:
3253:
3125:
3120:Termination/
3104:
2851:Nasal glioma
2841:Dermoid cyst
2810:
2804:
2793:
2792:
2777:Mastocytosis
2764:
2758:EEM syndrome
2750:
2679:
2635:
2621:
2500:
2476:
2447:
2008:skin disease
1956:
1936:
1925:
1914:
1890:
1879:
1868:
1853:
1838:
1792:
1772:. Retrieved
1760:
1718:
1714:
1708:
1696:. Retrieved
1691:
1682:
1671:. Retrieved
1667:
1658:
1633:
1629:
1623:
1611:. Retrieved
1601:
1558:
1554:
1544:
1530:
1508:(1): 100–6.
1505:
1501:
1495:
1460:
1456:
1446:
1393:
1389:
1378:
1343:
1339:
1329:
1294:
1290:
1280:
1238:(2): 670–4.
1235:
1231:
1221:
1196:
1192:
1186:
1159:
1155:
1145:
1110:
1106:
1096:
1061:
1057:
1047:
1020:
1016:
1006:
971:
967:
957:
920:
916:
858:
854:
791:
788:Mol Biol Rep
787:
781:
748:
744:
738:
703:
699:
689:
664:
660:
654:
635:
629:
607:(6): 754–8.
604:
600:
594:
579:
533:
516:
513:Epidemiology
500:
480:
456:
444:
431:
422:
324:
315:
313:
293:
288:
284:
280:
274:
264:
260:
258:
255:
244:
237:
221:dyslipidemia
189:
174:
154:erythematous
150:
146:
143:Presentation
136:
134:
127:
112:
106:
96:
80:
76:
75:
3225:MRN complex
3014:Skin dimple
2623:desmoplakin
2615:ungrouped:
2502:Cathepsin C
2478:plakoglobin
2179:and related
1927:GeneReviews
1793:GeneReviews
1761:GeneReviews
1199:(1): 7–18.
861:(1): 4–23.
565:Tumor M2-PK
451:BLM protein
3526:Categories
3510:See also:
3346:DNA repair
3145:DNA repair
3122:telomerase
2444:syndromic
2367:Cutis laxa
2354:Connective
2004:integument
2000:Congenital
1892:DiseasesDB
1673:2023-09-25
917:PLOS Genet
571:References
555:DNA repair
503:sunscreens
87:recessive
3415:Lamin A/C
3034:Birthmark
2827:anomalies
2794:see also
2272:related:
2125:Ungrouped
1916:eMedicine
1802:2372-0697
1593:229689882
1577:1878-4186
1555:Structure
1420:1091-6490
1017:Mol. Cell
877:1661-8769
661:J Pediatr
520:Ashkenazi
497:Treatment
477:Diagnosis
388:μ
344:μ
233:menopause
204:pneumonia
85:autosomal
56:Specialty
3106:RNASEH2A
2752:cadherin
2637:connexin
2575:punctate
2449:connexin
1938:Orphanet
1810:20301295
1774:July 14,
1769:20301572
1743:40914579
1698:17 April
1585:33357470
1487:30057030
1438:35115399
1370:24984776
1321:25119658
1178:15509577
1137:44382072
1129:17407155
1088:13439128
1039:20064461
998:30057030
949:27977684
895:28232778
816:11074294
808:25129257
773:27176412
765:16763388
745:Horm Res
730:31448222
700:Medicine
681:10190923
621:13206391
586:(OMIM):
560:Progeria
539:See also
302:Genetics
103:helicase
2834:Midline
2419:diffuse
2350:Elastic
1921:derm/54
1886:D001816
1650:9758720
1522:9062585
1478:6080766
1429:8832983
1398:Bibcode
1361:4067992
1312:5576897
1272:2911598
1240:Bibcode
1213:7712653
1080:7585968
989:6080766
940:5157948
886:5260600
722:8231788
491:23andMe
200:T cells
2681:ATP2A2
2245:JEB-PA
2216:EBS-MP
2211:EBS-MD
2206:EBS-OG
2201:EBS-DM
2196:EBS-WC
1875:210900
1864:757.39
1808:
1800:
1767:
1741:
1735:908169
1733:
1648:
1613:19 May
1591:
1583:
1575:
1520:
1485:
1475:
1436:
1426:
1418:
1368:
1358:
1319:
1309:
1270:
1263:286535
1260:
1211:
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1127:
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1078:
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986:
947:
937:
893:
883:
875:
814:
806:
771:
763:
728:
720:
679:
642:
619:
434:cancer
279:, and
247:cancer
168:, and
114:RECQL4
93:cancer
63:
3247:Other
2871:Nevus
2744:Other
2663:Other
2525:focal
2235:Mitis
2230:JEB-H
2191:EBS-K
1849:Q82.8
1739:S2CID
1589:S2CID
1133:S2CID
1084:S2CID
812:S2CID
769:S2CID
726:S2CID
285:TOP3A
266:TOP3A
229:sperm
3127:DKC1
3086:and
2264:RDEB
2259:DDEB
1897:1505
1881:MeSH
1870:OMIM
1859:9-CM
1806:PMID
1798:ISSN
1776:2019
1765:PMID
1731:PMID
1700:2015
1646:PMID
1615:2015
1581:PMID
1573:ISSN
1518:PMID
1483:PMID
1434:PMID
1416:ISSN
1366:PMID
1317:PMID
1268:PMID
1209:PMID
1174:PMID
1125:PMID
1076:PMID
1058:Cell
1035:PMID
994:PMID
945:PMID
891:PMID
873:ISSN
804:PMID
761:PMID
718:PMID
677:PMID
640:ISBN
617:PMID
289:RMI1
287:and
281:RMI2
276:RMI1
198:and
121:and
111:and
3193:MSI
2652:KID
2648:HID
2411:PPK
2254:DEB
2225:JEB
2186:EBS
1963:NLM
1961:at
1943:125
1855:ICD
1840:ICD
1723:doi
1638:doi
1563:doi
1510:doi
1473:PMC
1465:doi
1461:103
1424:PMC
1406:doi
1394:119
1356:PMC
1348:doi
1307:PMC
1299:doi
1258:PMC
1248:doi
1201:doi
1164:doi
1160:279
1115:doi
1066:doi
1025:doi
984:PMC
976:doi
972:103
935:PMC
925:doi
881:PMC
863:doi
796:doi
753:doi
708:doi
669:doi
665:134
609:doi
461:or
325:BLM
316:BLM
261:BLM
108:WRN
98:BLM
3528::
3124::
3082::
2809:,
2803:,
2798:,
2577::
2527::
2421::
2176:EB
2108:XR
2067::
2057:AR
2039:AD
2006:/
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1930::
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1832:D
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