General Information of Disease (ID: DISQ205R)

Disease Name Hyperpigmentation of the skin
Disease Hierarchy
DISWD40R: Disease
DIS3BXY0: Skin pigmentation disorder
DISQ205R: Hyperpigmentation of the skin
Disease Identifiers
MONDO ID
MONDO_0019289
MESH ID
D017495
UMLS CUI
C0162834
MedGen ID
57992
HPO ID
HP:0000953
Orphanet ID
79375
SNOMED CT ID
4830009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AHR TT037IE Strong Biomarker [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC29A3 DTZAWTH Strong Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RPL27A OTQQHPL0 moderate Biomarker [3]
MYO5A OTMWLP3E Strong Biomarker [4]
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References

1 Aryl Hydrocarbon Receptor Activation Contributes to Benzanthrone-Induced Hyperpigmentation via Modulation of Melanogenic Signaling Pathways.Chem Res Toxicol. 2017 Feb 20;30(2):625-634. doi: 10.1021/acs.chemrestox.6b00364. Epub 2017 Jan 12.
2 Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833.
3 Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models.J Pathol. 2011 Aug;224(4):540-52. doi: 10.1002/path.2891. Epub 2011 Jun 14.
4 Knockdown of myosin Va isoforms by RNAi as a tool to block melanosome transport in primary human melanocytes.J Invest Dermatol. 2008 Oct;128(10):2474-84. doi: 10.1038/jid.2008.100. Epub 2008 Apr 10.