| H00419 | |
| H番号 | H00419 |
| 名称 | 先天性全身性リポジストロフィー |
| 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 |
| ネットワーク | - |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A44 ICD-10: E88.1 MeSH: D052497 OMIM: 608594 269700 612526 613327 |
| 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 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 PMID:11967537 (AGPAT2) 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 PMID:19041432 (BSCL2) 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 PMID:18211975 (CAV1) 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 PMID:19726876 (CAVIN1) 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 |