Griscelli syndrome type 2
MeSH: C537302ORPHA: 79477
Overview
Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3
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 2, sourced from HPO and Orphanet clinical annotations.
JaundicePetechiaeSeizureHypertoniaSplenomegalyDecreased total neutrophil countPancytopeniaFeverNausea and vomitingPulmonary infiltratesPremature graying of hairHepatomegalyLymphadenopathyImmunodeficiencyHyperlipidemiaHypopigmentation of hairPartial albinismIris hypopigmentationHemophagocytosis
Classification & Codes
MeSH Code
C537302Orphanet Code
ORPHA:79477Griscelli syndrome type 2
| MeSH | C537302 |
| Orphanet | ORPHA:79477 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO