Details of Disease

General Information of Disease (ID: DIS3BXY0)

• Disease Name: Skin pigmentation disorder
• Synonyms: pigmentation disease; zone of skin pigmentation disease; pigmentation disease of zone of skin; pigmentation anomaly of the skin
• Definition: A pigmentation disease that involves the zone of skin.
• Disease Hierarchy:
  DIS9YPUQ: Dermatological disease
  DIS3BXY0: Skin pigmentation disorder
• Disease Identifiers:
  MONDO ID: MONDO_0019288
  UMLS CUI: C1704421
  MedGen ID: 316465
  Orphanet ID: 79374
  SNOMED CT ID: 46690002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPM1	TTTDAI9	Strong	Biomarker	[1]
TYR	TTULVH8	Strong	Biomarker	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCT	OTYVNTBG	Strong	Biomarker	[3]
PIEZO2	OTQ7AT38	Strong	Altered Expression	[4]
TMUB1	OTR4RO3N	Strong	Biomarker	[5]

References

• [1] TRPM1 forms ion channels associated with melanin content in melanocytes.Sci Signal. 2009 May 12;2(70):ra21. doi: 10.1126/scisignal.2000146.
• [2] Mushroom Tyrosinase-Based Enzyme Inhibition Assays Are Not Suitable for Bioactivity-Guided Fractionation of Extracts.J Nat Prod. 2019 Jan 25;82(1):136-147. doi: 10.1021/acs.jnatprod.8b00847. Epub 2019 Jan 10.
• [3] DCT protects human melanocytic cells from UVR and ROS damage and increases cell viability.Exp Dermatol. 2014 Dec;23(12):916-21. doi: 10.1111/exd.12574.
• [4] Cutaneous pigmentation modulates skin sensitivity via tyrosinase-dependent dopaminergic signalling.Sci Rep. 2017 Aug 23;7(1):9181. doi: 10.1038/s41598-017-09682-4.
• [5] CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease.J Cell Sci. 2019 May 15;132(10):jcs189134. doi: 10.1242/jcs.189134.