Griscelli Syndrome, Type 1 (GS1)

Alias:

Griscelli Syndrome Type 1

Hypopigmentation-Neurologic Impairment Syndrome

Gs1

Griscelli-Prunieras Syndrome Type 1

Partial Albinism and Primary Neurologic Disease Without Hemophagocytic Syndrome

Griscelli Syndrome with Primary Neurologic Impairment

Griscelli Syndrome, Cutaneous and Neurological Type

Griscelli Syndrome, Cutaneous and Neurologic Type

Griscelli Syndrome with Neurological Impairment

Griscelli Syndrome with Neurologic Impairment

Griscelli-Pruniéras Syndrome Type 1

Griscelli Syndrome 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Griscelli Syndrome, Type 1, also known as griscelli syndrome type 1, is related to griscelli syndrome, type 3 and griscelli syndrome, type 2, and has symptoms including seizures An important gene associated with Griscelli Syndrome, Type 1 is MYO5A (Myosin VA), and among its related pathways/superpathways are Insulin processing and Deregulation of Rab and Rab effector genes in bladder cancer. Affiliated tissues include skin and bone marrow, and related phenotypes are seizure and nystagmus

Related ID：

MALACARDS：GRS013

OMIM：214450

MESH：C537301