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Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).
Features include very common findings: Hypopigmented skin patches, Premature graying of hair, Silver-gray hair, and White hair; and common findings: Reduced tendon reflexes, Low platelet count (thrombocytopenia), Abnormality of neutrophils, and Low white blood cell count (decreased total leukocyte count) and others. 36 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Hydrocephalus, Intellectual disability, Seizure |
Biomarker and diagnostic research for Griscelli syndrome has been reported in the published literature.
Phenotype severity distribution: 4 very common features, 8 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered. Interventions under study include drug therapy and biologic therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.
220 publications have been identified in PubMed for Griscelli syndrome. Research spans Review / Meta-Analysis (46%), Case Report / Case Series (15%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 101 | 46% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Griscelli syndrome
Digestive system | 5 | Jaundice, Ascites, Enlarged spleen (splenomegaly) |
Blood and immune system | 5 | Enlarged spleen (splenomegaly), Low platelet count (thrombocytopenia), Abnormality of neutrophils |
Muscles | 2 | Low muscle tone (hypotonia), Reduced tendon reflexes |
Metabolism | 2 | Fever, Abnormal blood fat levels (abnormal circulating lipid concentration) |
Eyes | 1 | Nystagmus |
Skin | 1 | Hypopigmented skin patches |
Growth and development | 1 | Short stature |
Bones and joints | 1 | Bone marrow hypocellularity |
Patient case studies |
33 |
15% |
Laboratory research | 29 | 13% |
Disease patterns and progression | 28 | 13% |
Testing and diagnosis research | 14 | 6% |
Clinical study results | 9 | 4% |
Other research | 3 | 1% |
New treatment approaches | 3 | 1% |
He L (2026). [PMID: 42046526](https://pubmed.ncbi.nlm.nih.gov/42046526/). *Curr Opin Rheumatol*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Butureanu T (2026). [PMID: 42073363](https://pubmed.ncbi.nlm.nih.gov/42073363/). *Life (Basel)*. [Review / Meta-Analysis]
Chang HR (2026). [PMID: 41931068](https://pubmed.ncbi.nlm.nih.gov/41931068/). *J Invest Dermatol*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Sibal R (2026). [PMID: 41506442](https://pubmed.ncbi.nlm.nih.gov/41506442/). *J Pediatr Adolesc Gynecol*. [Review / Meta-Analysis]
EADB (2026). [PMID: 42237039](https://pubmed.ncbi.nlm.nih.gov/42237039/). *Nat Genet*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]