| H00736 | |
| H番号 | H00736 |
| 名称 | ドルフマン・シャナリン症候群 |
| 概要 | Chanarin-Dorfman syndrome (CDS), also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ichthyosis similar to that of non-bullous congenital ichthyosiform erythroderma. Other characteristics include hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 gene encoding a protein of the alpha/beta hydrolase domain subfamily are responsible for this disorder. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06531(H00736) lipid and insulin related signaling |
| 病因遺伝子 | ABHD5 [HSA:51099] [KO:K13699] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C52.2 ICD-10: E75.5 MeSH: C536560 OMIM: 275630 |
| 文献 | PMID:16935789 著者 Oji V, Traupe H タイトル Ichthyoses: differential diagnosis and molecular genetics. 雑誌 Eur J Dermatol 16:349-59 (2006) PMID:11590543 (ABHD5) 著者 Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J タイトル Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. 雑誌 Am J Hum Genet 69:1002-12 (2001) DOI:10.1086/324121 |