Details of Disease

General Information of Disease (ID: DIS9AICT)

Disease Name Oculocutaneous albinism type 1A
Synonyms
oculocutaneous albinism type IA; oculocutaneous albinism, type 1; albinism, oculocutaneous, type 1A; albinism 1; albinism, oculocutaneous, type IA; oculocutaneous albinism caused by mutation in Tyr; Tyr oculocutaneous albinism; tyrosinase-negative oculocutaneous albinism; OCA1A; oculocutaneous albinism, tyrosinase-negative; TYR oculocutaneous albinism; oculocutaneous albinism caused by mutation in TYR
Definition
Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
Disease Hierarchy
DISBXXVG: Autosomal recessive ocular albinism
DISBKTWY: Oculocutaneous albinism type 1
DISJS7CU: Oculocutaneous albinism
DIS9AICT: Oculocutaneous albinism type 1A
Disease Identifiers
MONDO ID
MONDO_0008745
MESH ID
C537728
UMLS CUI
C4551504
OMIM ID
203100
MedGen ID
1643910
Orphanet ID
79431
SNOMED CT ID
6483008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TYR OTX54MAA Definitive Autosomal recessive [1]
SCN7A OTK05PXY Strong Altered Expression [3]
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This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TYR TTULVH8 Limited Biomarker [2]
TYR TTULVH8 Definitive Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Genetic background-dependent role of Egr1 for eyelid development.Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):E7131-E7139. doi: 10.1073/pnas.1705848114. Epub 2017 Aug 4.
3 Assessment and prediction of acute kidney injury in patients with decompensated cirrhosis with serum cystatin C and urine N-acetyl--D-glucosaminidase.J Gastroenterol Hepatol. 2019 Jan;34(1):234-240. doi: 10.1111/jgh.14387. Epub 2018 Aug 21.