Oculocutaneous albinism type 6

Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the <i>SLC24A5</i> gene (15q21.1).



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000613 Photophobia Very frequent (99-80%)
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0001098 Abnormal fundus morphology Very frequent (99-80%)
HP:0007663 Reduced visual acuity Very frequent (99-80%)
HP:0008034 Abnormal iris pigmentation Very frequent (99-80%)
HP:0008059 Aplasia/Hypoplasia of the macula Very frequent (99-80%)
HP:0030613 Abnormal foveal morphology on macular OCT Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SLC24A5 solute carrier family 24 member 5 283652