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Griscelli syndrome type 1

MONDO:0008962

A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.

Also known as: GS1, Griscelli syndrome type 1, Griscelli-PruniC)ras syndrome type 1, Griscelli-Pruniéras syndrome type 1, hypopigmentation-neurologic impairment syndrome, Griscelli disease type 1, Griscelli syndrome with neurologic impairment, Griscelli syndrome, cutaneous and neurologic type

31 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Skin disorder (123) Inborn errors of metabolism (42) Syndromic disease (24) Human disease (14) Skin pigmentation disorder (11) Hereditary neurological disease (5)
Trials to join now! 17 Not yet recruiting 4 Not yet finished but already full! 4 Completed 6
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