temperature-sensitive oculocutaneous albinism type 1
Findings
No curated finding names temperature-sensitive oculocutaneous albinism type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).
Definition from the Mondo Disease Ontology (MONDO:0018137), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TYRHGNC:12442
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: temperature-sensitive oculocutaneous albinism type 1
- Also called
- OCA1-TSTS OCA type 1