ORPHA:79478
Griscelli syndrome type 3
Also known as: Griscelli-Pruniéras syndrome type 3
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,355
Trials
0
Interventional, condition-specific
Researchers
284
Distinct authors in sample
Gene link
MLPH
Strong
Readiness
4/6
Stages with a signal
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:0012220
- MeSH:C537303
- OMIM:609227
- UMLS:C1836573
Additional Mondo synonyms (3)
GS3 · Griscelli-PruniC)ras syndrome type 3 · Griscelli-Pruni��ras syndrome type 3
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — MLPH
- LiteraturePresent
1,355 matched papers (940 in last 10 years) Source
- Phenotype characterisedPresent
8 HPO annotations (e.g. Silver-gray hair; Immunodeficiency; Abnormality of the nervous system) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (MLPH).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
8
Associated phenotypes · MONDO:0012220
- Silver-gray hair
- Immunodeficiency
- Abnormality of the nervous system
- Large clumps of pigment irregularly distributed along hair shaft
- White eyelashes
Showing 5 of 8 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,355
1,355 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,355 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
940 in the last 10 years · low confidence
Phrase hits: 44 · MeSH hits: 0
Who's working on it?
284
Distinct author names in 44 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.
- 01Yang X3 papers · 2024
Department of Gastrointestinal Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Papers in Europe PMC - 02Bhari N2 papers · 2026
Department of Dermatology and Venereology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, India.
Papers in Europe PMC - 03Dayal S2 papers · 2022
Department of Dermatology, Pandit B.D. Sharma PGIMS, Rohtak, Haryana, India.
Papers in Europe PMC - 04Gaurav V2 papers · 2026
Department of Dermatology and Venereology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, India.
Papers in Europe PMC - 05Hearing VJ2 papers · 2014Papers in Europe PMC
- 06Wang Z2 papers · 2024
Yunnan Characteristic Plant Extraction Laboratory, Yunnan Yunke Characteristic Plant Extraction Laboratory Co., Ltd., Kunming, China.
Papers in Europe PMC - 07Abdul Rahman N1 paper · 2026
Department of Dermatology, Aleppo University Hospital, University of Aleppo, Aleppo, Syrian Arab Republic.
Papers in Europe PMC - 08Abebe E1 paper · 2020
Department of Dermatovenerology, ALERT Center, Addis Ababa, Ethiopia.
Papers in Europe PMC - 09Abubakir M1 paper · 2026
Faculty of Medicine, University of Aleppo, Aleppo, Syrian Arab Republic.
Papers in Europe PMC - 10Afzal M1 paper · 2025
Pathology, University College of Medicine and Dentistry, The University of Lahore, Lahore, PAK.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Griscelli syndrome type 3 — check Associations / patient organisations on that page.
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 3" OR "Griscelli-Pruniéras syndrome type 3" OR "Griscelli-PruniC)ras syndrome type 3" OR "Griscelli-Pruni��ras syndrome type 3") OR (MESH:"Griscelli syndrome type 3") OR ("MLPH" OR "MLPH syndrome" OR "MLPH-related")MeSH descriptor terms unioned into the query: Griscelli syndrome type 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Griscelli syndrome type 3" OR "Griscelli-Pruniéras syndrome type 3" OR "Griscelli-PruniC)ras syndrome type 3" OR "Griscelli-Pruni��ras syndrome type 3"
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: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: GS3
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
- Publication count (1355) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:28:24.829Z