Albinism, Oculocutaneous, Type Ia (OCA1A)

Albinism, Oculocutaneous, Type Ia(来自ICD-11)

别称:

Oculocutaneous Albinism Type 1

Oca1a

Oculocutaneous Albinism, Tyrosinase-Negative

Tyrosinase-Negative Oculocutaneous Albinism

Oca1

Oculocutaneous Albinism Type Ia

Albinism I

Atn

Oculocutaneous Albinism, Tyrosinase Negative

Oculocutaneous Albinism Tyrosinase Negative

Albinism, Oculocutaneous, Type I

Oculocutaneous Albinism, Type I

Oculocutaneous Albinism Type 1a

Albinism, Oculocutaneous, 1a

Albinism Oculocutaneous Ia

Oca-1a

Oca-Ia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Albinism, Oculocutaneous, Type Ia, also known as oculocutaneous albinism type 1, is related to albinism, oculocutaneous, type ib and oculocutaneous albinism, and has symptoms including photophobia An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. Affiliated tissues include skin and eye, and related phenotypes are nystagmus and abnormality of visual evoked potentials

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