OnlineIMD
Tyrosinase deficiency
Synonym(s)
Oculocutaneous albinism type 1
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
TYR
/ Tyrosinase
11q14.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Tyrosinase
Pathway
Phenylalanine and tyrosine metabolism
Disease group(s)
1.4 Disorders of phenylalanine and tyrosine metabolism
Child entries
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Minimal pigment oculocutaneous albinism type 1
Temperature-sensitive oculocutaneous albinism type 1
Waardenburg syndrome type 2