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Oculocutaneous albinism type 1A

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Name:
Oculocutaneous albinism type 1A
Description:
A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
ORPHAcode:
79431
Synonyms:
OCA1A
Tyrosinase-negative oculocutaneous albinism
XREF(s):
Orphanet
OMIM
ICD-10
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