| H00823 | |
| H number | H00823 |
| Name | ABCD syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | EDNRB [HSA:1910] [KO:K04198] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | ABCD syndrome is an allelic disorder of Waardenburg syndrome 4A. |
| Other DBs | ICD-11: LD2H.Y MeSH: C535334 OMIM: 600501 |
| Reference | PMID:11891690 AUTHORS Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM TITLE ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. JOURNAL Am J Med Genet 108:223-5 (2002) DOI:10.1002/ajmg.10172 PMID:7778600 AUTHORS Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M TITLE Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. JOURNAL Am J Med Genet 56:322-6 (1995) DOI:10.1002/ajmg.1320560322 |