| H01289 | |
| H番号 | H01289 |
| 名称 | マリブレー低身長症 |
| 概要 | Mulibrey nanism is an autosomal recessive growth disorder characterized by prenatal-onset growth failure and heart disease involving constrictive pericarditis and restrictive cardiomyopathy. Mutations in the TRIM37 gene have been reported in Mulibrey nanism patients. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | TRIM37 [HSA:4591] [KO:K10608] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.1 MeSH: D050336 OMIM: 253250 |
| 文献 | PMID:15108285 著者 Hamalainen RH, Avela K, Lambert JA, Kallijarvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE タイトル Novel mutations in the TRIM37 gene in Mulibrey Nanism. 雑誌 Hum Mutat 23:522 (2004) DOI:10.1002/humu.9233 |