Griscelli Syndrome (GS)

Griscelli Syndrome(来自ICD-11)

别称:

Partial Albinism-Immunodeficiency Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Immunodeficiency Syndrome with Hypopigmentation

Hypopigmentation Immunodeficiency Disease

Hypopigmentation-Immunodeficiency Disease

Partial Albinism with Immunodeficiency

Chédiak-Higashi-Like Syndrome

Griscelli-Pruniéras Syndrome

Griscelli Disease

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Griscelli Syndrome, also known as partial albinism-immunodeficiency syndrome, is related to griscelli syndrome, type 1 and griscelli syndrome, type 3. An important gene associated with Griscelli Syndrome is RAB27A (RAB27A, Member RAS Oncogene Family), and among its related pathways/superpathways are Peptide hormone metabolism and Insulin processing. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are premature graying of hair and hypopigmented skin patches

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