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Temperature-sensitive oculocutaneous albinism type 1

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Name:
Temperature-sensitive oculocutaneous albinism type 1
Description:
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.
ORPHAcode:
352737
Synonyms:
OCA1-TS
TS OCA type 1
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
TYR
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Ocular and oculocutaneous albinism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    TYR 100.00 1
    OCA2 100.00 1
    TYRP1 100.00 0
    SLC45A2 100.00 0
    SLC24A5 100.00 0
    LRMDA 100.00 0
    GPR143 100.00 1
    DCT 100.00 0