Temperature-sensitive oculocutaneous albinism type 1

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Temperature-sensitive oculocutaneous albinism type 1

Synonyms: OCA1-TS | TS OCA type 1

An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands feet legs arms and chest (cooler body areas) and white or pale yellow hair on the scalp axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Temperature-sensitive oculocutaneous albinism type 1?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.