ORPHA:1334
Chronic mucocutaneous candidiasis
Also known as: CMC
Publications
3,106
Trials
0
Interventional, condition-specific
Researchers
1,309
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015279
- MeSH:D002178
- UMLS:C0006845
- NCIT:C34444
Additional Mondo synonyms (6)
CANDF · chronic mucocutaneous candidiasis · chronic mucocutaneous candidiasis (disease) · familial CMC · familial candidiasis · familial chronic mucocutaneous candidiasis
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,106 matched papers (1,629 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
3,106
3,106 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.
3,106 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).
1,629 in the last 10 years · low confidence
Phrase hits: 3,106 · MeSH hits: 0
Who's working on it?
1,309
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.
- 01Okada S9 papers · 2026
Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences.
Papers in Europe PMC - 02Puel A7 papers · 2026
Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, Paris, France.
Papers in Europe PMC - 03Bousfiha AA6 papers · 2026
Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergie (LICIA), Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco.
Papers in Europe PMC - 04Lionakis MS6 papers · 2026
Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), NIAID, NIH, Bethesda, MD, USA.
Papers in Europe PMC - 05Tsumura M6 papers · 2026
Department of Pediatrics, Graduate School of Biomedical & Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.
Papers in Europe PMC - 06Casanova JL5 papers · 2026
Laboratory of Human Genetics of Infectious Diseases, INSERM, Paris, France.
Papers in Europe PMC - 07Tangye SG5 papers · 2026
Garvan Institute of Medical Research, Darlinghurst, Australia.
Papers in Europe PMC - 08Wang X5 papers · 2026
Department of Oral Medicine, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, 22 ZhongguancunNandajie, Haidian District, Beijing, 100081, People's Republic of China.
Papers in Europe PMC - 09Asano T4 papers · 2024
Department of Pediatrics, Graduate School of Biomedical & Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.
Papers in Europe PMC - 10Chen Y4 papers · 2026
Department of Radiation Oncology, Stanford University School of Medicine, Stanford, CA 94305, USA.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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
- NCT01386437·RECRUITING·Natural History of Individuals With Immune System Problems That Lead to Fungal Infections
Conditions: Chronic Mucocutaneous Candidiasis · Invasive Aspergillosis · CARD9 · APECED·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.
"Chronic mucocutaneous candidiasis" OR "CANDF" OR "chronic mucocutaneous candidiasis (disease)" OR "familial CMC" OR "familial candidiasis" OR "familial chronic mucocutaneous candidiasis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Chronic mucocutaneous candidiasis" OR "CANDF" OR "chronic mucocutaneous candidiasis (disease)" OR "familial CMC" OR "familial candidiasis" OR "familial chronic mucocutaneous candidiasis"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CMC
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 (3106) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T17:05:31.897Z