Griscelli syndrome type 1
MeSH: C537301ORPHA: 79476
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Griscelli syndrome type 1, sourced from HPO and Orphanet clinical annotations.
RetinopathyNystagmusDiplopiaIntellectual disabilitySeizureAtaxiaGlobal developmental delayHypertoniaGeneralized hypotoniaPremature graying of hairCerebral calcificationHyperlipidemiaPartial albinismIris hypopigmentationWhite hairAbnormality of movement
Classification & Codes
MeSH Code
C537301Orphanet Code
ORPHA:79476Griscelli syndrome type 1
| MeSH | C537301 |
| Orphanet | ORPHA:79476 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO