Temperature-sensitive oculocutaneous albinism type 1

Orpha code: 352737OMIM code: 606952

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
OCA1-TS
OCA1-TS
TS OCA type 1
TS OCA type 1
ORPHA code
352737
OMIM code
606952
ICD10 code
E70.3
ICD11 code
-

No additional description.

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