Details of Disease

General Information of Disease (ID: DIS5MQWA)

Disease Name Dyschromatosis universalis hereditaria
Synonyms DUH; dyschromatosis universalis
Definition A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
Disease Hierarchy
DISQ205R: Hyperpigmentation of the skin
DISSCALK: Hereditary skin disorder
DIS5MQWA: Dyschromatosis universalis hereditaria
Disease Identifiers
MONDO ID
MONDO_0000736
MESH ID
C535730
UMLS CUI
C2930995
MedGen ID
419691
Orphanet ID
241

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 Disputed Biomarker [1]
ABCB6 DTF9Y2V Supportive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCB6 OTPGZFES Supportive Autosomal dominant [2]
SASH1 OTQA8BD4 Strong Biomarker [3]
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References

1 ABCB6 Resides in Melanosomes and Regulates Early Steps of Melanogenesis Required for PMEL Amyloid Matrix Formation.J Mol Biol. 2018 Oct 12;430(20):3802-3818. doi: 10.1016/j.jmb.2018.06.033. Epub 2018 Jun 22.
2 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.
3 p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation.J Cell Mol Med. 2017 Oct;21(10):2465-2480. doi: 10.1111/jcmm.13168. Epub 2017 Apr 6.