ORPHA:167
Chédiak-Higashi syndrome
Also known as: Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,979
Trials
9
Interventional, condition-specific
Researchers
1,139
Distinct authors in sample
Gene link
LYST
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
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:0008963
- MeSH:D002609
- OMIM:214500
- UMLS:C0007965
- NCIT:C2941
Additional Mondo synonyms (6)
CHS · ChC)diak-Higashi disease · ChC)diak-Higashi-Steinbrink syndrome · Chediak Higashi Syndrome · Chediak Higashi syndrome · Chediak-Higashi 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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — LYST
- LiteraturePresent
2,979 matched papers (924 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 trialPresent
9 matched on ClinicalTrials.gov
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 (LYST).
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?
2,979
2,979 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=5449) is 41.
2,979 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).
924 in the last 10 years · low confidence
Phrase hits: 2,979 · MeSH hits: 0
Who's working on it?
1,139
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Introne WJ9 papers · 2025
Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
Papers in Europe PMC - 02Malicdan MCV6 papers · 2025
Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 03Gahl WA5 papers · 2025
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
Papers in Europe PMC - 04Morimoto M4 papers · 2025
National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 05Toro C4 papers · 2024
NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA.
Papers in Europe PMC - 06Adams DR3 papers · 2024
Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.
Papers in Europe PMC - 07Malicdan MC3 papers · 2020
Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA. Electronic address: malicdanm@mail.nih.gov.
Papers in Europe PMC - 08Nicoli ER3 papers · 2025
National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 09Rosenzweig SD3 papers · 2025
Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 10Serra-Vinardell J3 papers · 2024
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
9
interventional trials for this specific condition
9 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).
low confidence · 91.2th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
9 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT00005917·RECRUITING·Study of Chediak-Higashi Syndrome
Conditions: Chediak-Higashi Syndrome·Matched via name phrase
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.
"Chédiak-Higashi syndrome" OR "Chédiak-Higashi disease" OR "Chédiak-Higashi-Steinbrink syndrome" OR "ChC)diak-Higashi disease" OR "ChC)diak-Higashi-Steinbrink syndrome" OR "Chediak Higashi Syndrome" OR "Chediak-Higashi syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Chédiak-Higashi syndrome" OR "Chédiak-Higashi disease" OR "Chédiak-Higashi-Steinbrink syndrome" OR "ChC)diak-Higashi disease" OR "ChC)diak-Higashi-Steinbrink syndrome" OR "Chediak Higashi Syndrome" OR "Chediak-Higashi syndrome" OR "LYST"
Recall-expansion terms: LYST
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 9 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CHS
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 (2979) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T12:43:13.701Z