Albinism, Oculocutaneous, Type Ib (OCA1B)

Alias:

Oca1b

Oculocutaneous Albinism Type 1b

Oculocutaneous Albinism Type Ib

Albinism, Yellow Mutant Type

Temperature-Sensitive Oculocutaneous Albinism Type 1

Oculocutaneous Albinism, Amish Type

Platinum Oculocutaneous Albinism

Yellow Oculocutaneous Albinism

Yellow Albinism

Albinism, Oculocutaneous, Type I, Temperature-Sensitive

Oculocutaneous Albinism Type I Temperature-Sensitive

Minimal Pigment Oculocutaneous Albinism

Oculocutaneous Albinism, Type Ib

Albinism, Oculocutaneous, 1b

Albinism Yellow Mutant Type

Ts Oca Type 1

Oca1-Ts

Oca-Its

Oca-Ib

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Albinism, Oculocutaneous, Type Ib, also known as oca1b, is related to albinism, oculocutaneous, type ia and oculocutaneous albinism. An important gene associated with Albinism, Oculocutaneous, Type Ib is TYR (Tyrosinase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. The drugs Nitisinone and Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are abnormality of retinal pigmentation and strabismus

Related ID：

MALACARDS：ALB010

OMIM：606952

MESH：C537729