Details of Disease

General Information of Disease (ID: DISBKTWY)

Disease Name Oculocutaneous albinism type 1
Synonyms oculocutaneous albinism, tyrosinase negative; ATN; oculocutaneous albinism type 1; OCA1
Definition
Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
Disease Hierarchy
DISQGNHK: Disorder of tyrosine metabolism
DISJS7CU: Oculocutaneous albinism
DISBKTWY: Oculocutaneous albinism type 1
Disease Identifiers
MONDO ID
MONDO_0018135
MESH ID
C537728
UMLS CUI
C0268494
MedGen ID
82809
Orphanet ID
352731
SNOMED CT ID
765146000

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
TYR OTX54MAA Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------
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]
------------------------------------------------------------------------------------

References

1 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.
2 Membrane-associated human tyrosinase is an enzymatically active monomeric glycoprotein.PLoS One. 2018 Jun 5;13(6):e0198247. doi: 10.1371/journal.pone.0198247. eCollection 2018.