Details of Disease

General Information of Disease (ID: DISW4841)

Disease Name Oculocutaneous albinism type 6
Synonyms albinism, oculocutaneous, type VI; skin/hair/eye pigmentation 4, fair/dark skin; OCA6
Definition A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
Disease Hierarchy
DISJS7CU: Oculocutaneous albinism
DISW4841: Oculocutaneous albinism type 6
Disease Identifiers
MONDO ID
MONDO_0018264
UMLS CUI
C3805375
OMIM ID
113750
MedGen ID
811705
Orphanet ID
370097
SNOMED CT ID
722058005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC24A5 DTAWCS9 moderate Genetic Variation [1]
SLC24A4 DTQWF14 Strong Biomarker [2]
SLC24A5 DTAWCS9 Definitive Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC24A5 OTJIT7FJ Definitive Autosomal recessive [3]
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References

1 In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for oculocutaneous albinism type 6 (OCA 6) disorder.J Biomol Struct Dyn. 2019 Aug;37(13):3513-3523. doi: 10.1080/07391102.2018.1520649. Epub 2018 Dec 5.
2 A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.J Biol Chem. 2016 Jun 17;291(25):13113-23. doi: 10.1074/jbc.M116.728824. Epub 2016 Apr 25.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.