KEGG DISEASE: 先天性全身性リポジストロフィー

DISEASE: 先天性全身性リポジストロフィー

エントリ

H00419

名称

先天性全身性リポジストロフィー

上位グループ

脂肪萎縮症 [DS:H01475]

概要

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries are also observed in this disease. Patients typically have low serum levels of leptin and adiponectin. Several genes were studied to identify the molecular alteration responsible for CGL, which have been found to contribute to lipid droplet formation in adipocytes.

カテゴリ

先天性代謝異常症

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   その他のグルコース調節または膵内分泌の疾患
    5A44  インスリン抵抗性症候群
     H00419  先天性全身性リポジストロフィー

病因遺伝子

(CGL1) AGPAT2 [HSA:10555] [KO:K13509]
(CGL2) BSCL2 [HSA:26580] [KO:K19365]
(CGL3) CAV1 [HSA:857] [KO:K06278]
(CGL4) CAVIN1 [HSA:284119] [KO:K19387]
(CGL5) PCYT1A [HSA:5130] [KO:K00968]

リンク

ICD-11:

5A44

MeSH:

D052497

OMIM:

608594 269700 612526 613327 620680

文献

PMID:19494770

著者

Simha V, Garg A

タイトル

Inherited lipodystrophies and hypertriglyceridemia.

雑誌

Curr Opin Lipidol 20:300-8 (2009)
DOI:10.1097/MOL.0b013e32832d4a33

文献

PMID:19167372

著者

Gomes KB, Pardini VC, Fernandes AP

タイトル

Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).

雑誌

Clin Chim Acta 402:1-6 (2009)
DOI:10.1016/j.cca.2008.12.032

文献

PMID:11967537 (CGL1)

著者

Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A

タイトル

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

雑誌

Nat Genet 31:21-3 (2002)
DOI:10.1038/ng880

文献

PMID:19041432 (CGL2)

著者

Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G

タイトル

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

雑誌

Eur J Med Genet 52:14-6 (2009)
DOI:10.1016/j.ejmg.2008.10.006

文献

PMID:18211975 (CGL3)

著者

Kim CA, Delepine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magre J

タイトル

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

雑誌

J Clin Endocrinol Metab 93:1129-34 (2008)
DOI:10.1210/jc.2007-1328

文献

PMID:19726876 (CGL4)

著者

Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I

タイトル

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

雑誌

J Clin Invest 119:2623-33 (2009)
DOI:10.1172/JCI38660

文献

PMID:24889630 (CGL5)

著者

Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB

タイトル

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.

雑誌

Proc Natl Acad Sci U S A 111:8901-6 (2014)
DOI:10.1073/pnas.1408523111

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