ORPHA:79477
Griscelli syndrome type 2
Also known as: Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
Publications
446
83.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,602
Distinct authors in sample
Gene link
RAB27A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011872
- MeSH:C537302
- OMIM:607624
- UMLS:C1868679
- NCIT:C111814
Additional Mondo synonyms (7)
GS2 · Griscelli syndrome with hemophagocytic syndrome · Griscelli-PruniC)ras syndrome type 2 · Griscelli-Pruni��ras syndrome type 2 · PAID syndrome · hypopigmentation-immunodeficiency with or without neurologic impairment syndrome · partial albinism and immunodeficiency syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — RAB27A
- LiteraturePresent
446 matched papers (274 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 3 for broader category Griscelli syndrome
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (RAB27A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
446
446 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
446 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
274 in the last 10 years · medium confidence · 83.5th percentile (publications denominator)
Phrase hits: 446 · MeSH hits: 8
Who's working on it?
1,602
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Lehmberg K8 papers · 2025
Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 02Bryceson YT7 papers · 2025
Centre for Infectious Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Papers in Europe PMC - 03Ehl S6 papers · 2023
Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Papers in Europe PMC - 04Parvaneh N6 papers · 2023
Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
Papers in Europe PMC - 05de Saint Basile G5 papers · 2017
Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France.
Papers in Europe PMC - 06Fukuda M5 papers · 2026
Laboratory of Membrane Trafficking Mechanisms, Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan.
Papers in Europe PMC - 07Henter JI5 papers · 2024
Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Papers in Europe PMC - 08Ben-Omran T4 papers · 2024
Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, Qatar.
Papers in Europe PMC - 09Beutel K4 papers · 2012Papers in Europe PMC
- 10Cugno C4 papers · 2024
Pediatric Hematology and Oncology Department, Sidra Medicine, Doha, Qatar.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 3 trials are registered for Griscelli syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
3 interventional trials matched Griscelli syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Griscelli syndrome
3
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Griscelli syndrome type 2" OR "Griscelli-Pruniéras syndrome type 2" OR "Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" OR "Griscelli syndrome with hemophagocytic syndrome" OR "Griscelli-PruniC)ras syndrome type 2" OR "Griscelli-Pruni��ras syndrome type 2" OR "PAID syndrome" OR "partial albinism and immunodeficiency syndrome"
MeSH descriptor terms unioned into the query: Griscelli syndrome type 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Griscelli syndrome type 2" OR "Griscelli-Pruniéras syndrome type 2" OR "Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" OR "Griscelli syndrome with hemophagocytic syndrome" OR "Griscelli-PruniC)ras syndrome type 2" OR "Griscelli-Pruni��ras syndrome type 2" OR "PAID syndrome" OR "partial albinism and immunodeficiency syndrome" OR "RAB27A"
Recall-expansion terms: RAB27A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Griscelli syndrome"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: GS2
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:28:15.820Z