| H00788 | |
| H番号 | H00788 |
| 名称 | Hoyeraal-Hreidarsson 症候群; X連鎖先天性角化異常症 |
| 概要 | Hoyeraal-Hreidarsson syndrome is an X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, bone marrow failure associated with immunodeficiency. A missense mutation in the DKC1 gene and premature short telomeres were found in the disease. |
| カテゴリ | リボソーム病 |
| ネットワーク | - |
| 病因遺伝子 | DKC1 [HSA:1736] [KO:K11131] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A70.0 ICD-10: D61.0 MeSH: C536068 OMIM: 305000 |
| 文献 | PMID:14648217 著者 Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A タイトル Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). 雑誌 Eur J Pediatr 162:863-7 (2003) DOI:10.1007/s00431-003-1317-5 PMID:20205257 著者 Valera ET, Brassesco MS, Roxo P Jr, Lourenco CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET タイトル Genomic instability in Hoyeraal-Hreidarsson syndrome. 雑誌 Pediatr Blood Cancer 54:779-80 (2010) DOI:10.1002/pbc.22446 |