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Temperature-sensitive oculocutaneous albinism type 1
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).
ORPHA:352737Classification level: Subtype of disorder
- TS OCA type 1
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E70.3
- OMIM: 606952
- UMLS: C1847132
- MeSH: -
- GARD: -
- MedDRA: -
The prevalence is unknown. So far, around 10 cases have been reported.
At birth, patients have white hair and skin. After a few years to a decade, they develop darker hair in the cooler regions of the body, such as the hands, feet, legs, arms and chest. On the warm areas of the body, such as the axilla and pubic area, their hair still remains white or becomes pale yellow. Scalp hair is generally white, but it may develop a slight yellow tint depending on the location. Nystagmus and reduced visual acuity are also noted.
OCA1-TS is caused by a mutation in the TYR gene located on chromosome 11q14.3 encoding tyrosinase. The mutation leads to a temperature-sensitive tyrosinase protein which is inactivated at around 37oC.
OCA1-TS is inherited autosomal recessively and genetic counseling is possible.