KEGG   DISEASE: H00823Help
Entry
H00823                      Disease                                

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 disorder
BRITE hierarchy
Pathway
Calcium signaling pathway
Neuroactive ligand-receptor interaction
Melanogenesis
Gene
EDNRB [HSA:1910] [KO:K04198]
Comment
ABCD syndrome is an allelic disorder of Waardenburg syndrome 4A.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:11891690 (gene, description)
  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)
Reference
PMID:7778600 (description)
  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)

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