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ENGriscelli Syndrome (GS)
Alias:
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
Gs
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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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