Details of Disease | DrugMAP

General Information of Disease (ID: DISLORJ1)

Disease Name	ABCD syndrome
Synonyms	albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness; ABCDS; albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness; ABCD syndrome
Definition	An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISLORJ1: ABCD syndrome
Disease Identifiers	MONDO ID MONDO_0010895 MESH ID C535334 UMLS CUI C1838099 OMIM ID 600501 MedGen ID 333014 Orphanet ID 918

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EDNRB	TT3ZTGU	Strong	Biomarker	[1]
EDNRB	TT3ZTGU	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDNRB	OTLLZV3P	Definitive	Autosomal dominant	[2]
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References

1	Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.
2	Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet. 1995 Apr 10;56(3):322-6. doi: 10.1002/ajmg.1320560322.