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Oculocutaneous albinism type 1B

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Name:
Oculocutaneous albinism type 1B
Description:
A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.
ORPHAcode:
79434
Synonyms:
OCA1B
Oculocutaneous albinism, Amish type
Platinum oculocutaneous albinism
Yellow oculocutaneous albinism
XREF(s):
Orphanet
ICD-10
OMIM
MeSH
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