Details of Disease

General Information of Disease (ID: DISDEWS5)

Disease Name Oculocutaneous albinism type 3
Synonyms
ROCA; rufous OCA; albinism, oculocutaneous, type III; albinism, oculocutaneous, type 3; albinism 3; Xanthism; oculocutaneous albinism, type 3; oculocutaneous albinism type III; oculocutaneous albinism type 3; rufous oculocutaneous albinism; xanthous oculocutaneous albinism; OCA3; Red oculocutaneous albinism; oculocutaneous albinism caused by mutation in TYRP1; TYRP1 oculocutaneous albinism
Definition Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.
Disease Hierarchy
DISJS7CU: Oculocutaneous albinism
DISDEWS5: Oculocutaneous albinism type 3
Disease Identifiers
MONDO ID
MONDO_0008747
MESH ID
C537189
UMLS CUI
C0342683
OMIM ID
203290
MedGen ID
87450
Orphanet ID
79433
SNOMED CT ID
63450009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TYRP1 OTRK49R4 Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TYRP1 TTFRV98 Limited Genetic Variation [2]
TYRP1 TTFRV98 Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 A case of Asian Indian OCA3 patient. Am J Med Genet A. 2009 Jul;149A(7):1578-80. doi: 10.1002/ajmg.a.32930.
2 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30.