Details of Disease | DrugMAP

General Information of Disease (ID: DISMTYMP)

Disease Name	Oculocutaneous albinism type 2
Synonyms	oculocutaneous albinism type II; Albinoidism; oculocutaneous albinism, type 2; oculocutaneous albinism tyrosinase positive; albinism, oculocutaneous, type II; albinism, oculocutaneous, type 2; tyrosinase-positive oculocutaneous albinism; Brown oculocutaneous albinism; albinism, Brown oculocutaneous; albinism 2; OCA2; oculocutaneous albinism, tyrosinase-positive; albinism, oculocutaneous, type II, modifier of; oculocutaneous albinism type 2
Definition	Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
Disease Hierarchy	DISJS7CU: Oculocutaneous albinism DISMTYMP: Oculocutaneous albinism type 2
Disease Identifiers	MONDO ID MONDO_0008746 MESH ID C537730 UMLS CUI C0268495 OMIM ID 203200 MedGen ID 82810 Orphanet ID 79432 SNOMED CT ID 26336006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GABRA5	TTNZPQ1	Limited	Biomarker	[1]
TYRP1	TTFRV98	Limited	Genetic Variation	[2]
MC1R	TT0MV2T	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC45A2	DTNCJAT	Strong	Altered Expression	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPR143	OTWUA2AV	Strong	Genetic Variation	[2]
HERC2	OTNQYKOB	Strong	Biomarker	[1]
OCA2	OTDWIGBF	Definitive	Autosomal recessive	[4]
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References

1	Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.Gene. 2013 Jan 10;512(2):453-5. doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1.
2	Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.Mol Vis. 2010 Aug 9;16:1514-24.
3	Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.Pigment Cell Melanoma Res. 2015 Nov;28(6):730-5. doi: 10.1111/pcmr.12400. Epub 2015 Sep 22.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.