Griscelli Syndrome, Type 2 (GS2)

Griscelli Syndrome, Type 2(来自ICD-11)

别称:

Griscelli Syndrome Type 2

Hypopigmentation-Immunodeficiency with or Without Neurologic Impairment Syndrome

Gs2

Griscelli Syndrome with Hemophagocytic Syndrome

Partial Albinism and Immunodeficiency Syndrome

Griscelli-Prunieras Syndrome Type 2

Paid Syndrome

Griscelli-Pruniéras Syndrome Type 2

Griscelli Syndrome 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Griscelli Syndrome, Type 2, also known as griscelli syndrome type 2, is related to griscelli syndrome, type 3 and griscelli syndrome, type 1, and has symptoms including muscle spasticity, seizures and cerebellar signs. An important gene associated with Griscelli Syndrome, Type 2 is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Interactions of natural killer cells in pancreatic cancer and Insulin processing. Affiliated tissues include skin and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

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