KEGG   DISEASE: ABCD syndromeHelp
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
Other disease
Brite
Human diseases [BR:br08402]
 Other diseases
  Others
   H00823  ABCD syndrome
Human diseases in ICD-10 classification [BR:br08403]
 12. Diseases of the skin and subcutaneous tissue (L00-L99)
  L80-L99  Other disorders of the skin and subcutaneous tissue
   L81  Other disorders of pigmentation
    H00823  ABCD syndrome
BRITE hierarchy
Pathway
hsa04020  Calcium signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04916  Melanogenesis
Gene
EDNRB [HSA:1910] [KO:K04198]
Comment
ABCD syndrome is an allelic disorder of Waardenburg syndrome 4A.
Other DBs
MeSH: C535334
OMIM: 600501
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)
DOI:10.1002/ajmg.10172
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)
DOI:10.1002/ajmg.1320560322

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