Details of Disease

General Information of Disease (ID: DISQKSEL)

Disease Name Dyschromatosis universalis hereditaria 3
Synonyms
DUH3; dyschromatosis universalis hereditaria type 3; dyschromatosis universalis hereditaria 3; ABCB6 dyschromatosis universalis hereditaria; dyschromatosis universalis hereditaria caused by mutation in ABCB6
Definition Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.
Disease Hierarchy
DIS5MQWA: Dyschromatosis universalis hereditaria
DISQKSEL: Dyschromatosis universalis hereditaria 3
Disease Identifiers
MONDO ID
MONDO_0014169
UMLS CUI
C3809394
OMIM ID
615402
MedGen ID
815724

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCB6 DTF9Y2V Limited Autosomal dominant [1]
ABCB6 DTF9Y2V Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCB6 OTPGZFES Limited Autosomal dominant [1]
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References

1 Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol. 2013 Sep;133(9):2221-8. doi: 10.1038/jid.2013.145. Epub 2013 Mar 21.
2 Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.