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he was transferred to Dr. Louis Avioli at the
National Cancer Institute. Donald Fredrickson, then head of the Molecular Disease Branch, became aware of the case and had a hunch that the original diagnosis was incorrect. In 1960, he traveled with Dr. Avioli to Tangier Island for further investigation.
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transporter. People with
Tangier disease have defective ABCA1 transporters resulting in a greatly reduced ability to transport cholesterol out of their cells, which leads to an accumulation of cholesterol and phospholipids in many body tissues, which can cause them to increase in size. Reduced blood
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in the bloodstream. This inability to transport cholesterol out of cells leads to a deficiency of high-density lipoproteins in the circulation, which is a risk factor for coronary artery disease. Additionally, the buildup of cholesterol in cells can be toxic, causing cell death or impaired function.
361:(cholesterol ester-laden macrophages) in not only the tonsils, but also in a wide range of tissues, including the bone marrow and spleen. During a second trip to the island, they found that the family had very low levels of HDL cholesterol, suggesting a genetic basis of the disease.
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pattern, meaning that for the phenotype to appear, two copies of the gene must be present in the genotype. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
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Mutations to chromosome 9q31 lead to a defective ABCA1 transporter. These mutations prevent the ABCA1 protein from effectively transporting cholesterol and phospholipids out of cells for pickup by
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Therefore, the only current treatment modality for
Tangier's disease is diet modification. A low-fat diet can reduce some of the symptoms, especially those involving neuropathies.
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Rust S, Rosier M, Funke H, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999; 22:352.
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Rust S, Rosier M, Funke H, et al. (August 1999). "Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1".
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301:, which is characterized by fatty deposits and scar-like tissue lining the arteries. Other signs of this condition may include an enlarged spleen (
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are visibly affected by this disorder; they frequently appear orange or yellow and are extremely enlarged. Affected people often develop premature
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Tangier disease results in familial high-density lipoprotein deficiency. High-density lipoproteins are created when a protein in the bloodstream,
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273:. The cholesterol and phospholipids used to form HDL originate from inside cells but are transported out of the cell into the blood via the
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Serfaty-Lacrosniere C, Civeira F, Lanzberg A, et al. Homozygous
Tangier disease and cardiovascular disease. Atherosclerosis 1994;107:85-98.
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Individuals that are homozygotes for
Tangier's disease develop various cholesterol ester depositions. These are especially visible in the
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Neuropathy and cardiovascular disease are the most devastating developments caused by
Tangier's disease.
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After finding the same symptom in Teddy's sister, an investigation revealed an extremely high number of
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People affected by this condition also have slightly elevated amounts of fat in the blood (mild
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is an extremely rare inherited disorder characterized by a severe reduction in the amount of
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Diffuse hazy opacity of the right cornea in a patient with
Tangier disease.
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These combined factors lead to the signs and symptoms of
Tangier disease.
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may also be found in lymph nodes, bone marrow, the liver and spleen.
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levels of high-density lipoproteins is sometimes described as
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James, William D.; Berger, Timothy G.; et al. (2006).
567:- Published 1990 Received From the Tangier History Museum"
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In 1959, a five-year-old patient named Teddy Laird from
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Skin conditions resulting from errors in metabolism
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46:. Unsourced material may be challenged and removed.
333:. While these drugs are useful for patients with
1071:Progressive familial intrahepatic cholestasis 2
1047:Progressive familial intrahepatic cholestasis 3
827:Lecithin cholesterol acyltransferase deficiency
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773:Familial apoprotein CII deficiency/Type Ib
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313:, and early-onset cardiovascular disease.
178:The disorder was originally discovered on
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209:depositions the tonsils may be enlarged.
106:Learn how and when to remove this message
788:Familial dysbetalipoproteinemia/Type III
321:There are drugs that can increase serum
198:, as they may appear yellow/orange. The
565:When a Gene Makes You Smell Like A Fish
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269:(apoA1), combines with cholesterol and
213:(enlarged liver and spleen) is common.
778:Familial hypercholesterolemia/Type IIa
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289:) and disturbances in nerve function (
793:Familial hypertriglyceridemia/Type IV
768:Lipoprotein lipase deficiency/Type Ia
133:Familial alpha-lipoprotein deficiency
7:
1256:Membrane transport protein disorders
44:adding citations to reliable sources
992:Surfactant metabolism dysfunction 3
244:This condition is inherited in an
171:(HDL), often referred to as "good
14:
913:APOA1 familial renal amyloidosis
783:Combined hyperlipidemia/Type IIb
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31:needs additional citations for
1:
1251:Autosomal recessive disorders
860:Chylomicron retention disease
819:Hypoalphalipoproteinemia/HDL
443:National Institute of Health
855:Apolipoprotein B deficiency
842:Hypobetalipoproteinemia/LDL
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1246:Lipid metabolism disorders
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1146:Dilated cardiomyopathy 1O
1020:Harlequin-type ichthyosis
882:Barraquer–Simons syndrome
437:Genetics Home Reference.
1106:Pseudoxanthoma elasticum
350:Tangier Island, Virginia
280:hypoalphalipoproteinemia
169:high density lipoprotein
165:hypoalphalipoproteinemia
1008:Retinitis pigmentosa 19
589:Genetics Home Reference
546:Genetics Home Reference
232:pattern of inheritance.
228:Tangier disease has an
1094:Dubin–Johnson syndrome
800:Xanthoma/Xanthomatosis
305:), an enlarged liver (
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1173:Adrenomyeloneuropathy
1024:Lamellar ichthyosis 2
382:. Saunders Elsevier.
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1169:Adrenoleukodystrophy
850:Abetalipoproteinemia
763:Hypertriglyceridemia
759:Hypercholesterolemia
287:hypertriglyceridemia
40:improve this article
1208:Gallbladder disease
1004:Stargardt disease 1
810:Hypolipoproteinemia
309:), clouding of the
246:autosomal recessive
230:autosomal recessive
908:Lipoid proteinosis
678:External resources
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211:Hepatosplenomegaly
200:cholesterol esters
190:Signs and symptoms
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389:978-0-7216-2921-6
267:Apolipoprotein A1
207:cholesterol ester
182:off the coast of
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549:. Retrieved
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506:(4): 352–5.
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354:Niemann-Pick
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307:hepatomegaly
303:splenomegaly
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38:Please help
33:verification
30:
898:Lipomatosis
331:gemfibrozil
205:Due to the
173:cholesterol
129:Other names
1240:Categories
663:DiseasesDB
551:2015-09-28
500:Nat. Genet
484:2015-09-28
448:2018-12-22
423:2018-12-22
412:Orphanet.
365:References
359:foam cells
291:neuropathy
66:newspapers
1224:see also
961:disorders
317:Treatment
253:Diagnosis
140:Specialty
687:Orphanet
528:24651530
520:10431238
325:such as
220:Genetics
184:Virginia
657:D013631
344:History
295:tonsils
293:). The
196:tonsils
80:scholar
1066:ABCB11
1015:ABCA12
646:205400
526:
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327:niacin
311:cornea
147:
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1203:ABCG8
1191:ABCG5
1164:ABCD1
1141:ABCC9
1134:TNDM2
1125:ABCC8
1113:ABCC7
1101:ABCC6
1089:ABCC2
1054:ABCB7
1042:ABCB4
999:ABCA4
987:ABCA3
975:ABCA1
891:Other
692:31150
668:12901
635:272.5
620:E78.6
524:S2CID
275:ABCA1
238:ApoA1
87:JSTOR
73:books
1183:ABCG
1156:ABCD
1130:HHF1
1081:ABCC
1059:ASAT
1034:ABCB
967:ABCA
737:of
652:MeSH
641:OMIM
630:9-CM
516:PMID
384:ISBN
59:news
1210:4,
626:ICD
611:ICD
587:NLM
585:at
508:doi
329:or
323:HDL
163:or
42:by
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