| H00823 | |
| H番号 | H00823 |
| 名称 | ABCD 症候群 |
| 概要 | ABCD syndrome is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | EDNRB [HSA:1910] [KO:K04198] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | ABCD syndrome is an allelic disorder of Waardenburg syndrome 4A. |
| リンク | ICD-11: LD2H.Y MeSH: C535334 OMIM: 600501 |
| 文献 | PMID:11891690 著者 Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM タイトル ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. 雑誌 Am J Med Genet 108:223-5 (2002) DOI:10.1002/ajmg.10172 PMID:7778600 著者 Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M タイトル Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. 雑誌 Am J Med Genet 56:322-6 (1995) DOI:10.1002/ajmg.1320560322 |