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ORPHA:1334

Chronic mucocutaneous candidiasis

low confidenceDisorder

Also known as: CMC

Publications

3,106

Trials

0

Interventional, condition-specific

Researchers

1,309

Distinct authors in sample

Gene link

—

Readiness

2/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,106 matched papers (1,629 in last 10 years) Source

  3. Phenotype characterisedPresent

    163 HPO annotations (e.g. Abnormal vagina morphology; Abnormal dental enamel morphology; Hematuria) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

163

Associated phenotypes · MONDO:0015279

  • Abnormal vagina morphology
  • Abnormal dental enamel morphology
  • Hematuria
  • Abnormality of the skin
  • Abnormal nail morphology

Showing 5 of 163 — 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)

2 associated chemicals · 46 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Ketoconazole · therapeutic
  • Miconazole · therapeutic

Pathways: Chemokine signaling pathway; Osteoclast differentiation; Toll-like receptor signaling pathway; NOD-like receptor signaling pathway; Jak-STAT signaling pathway; Th1 and Th2 cell differentiation; Th17 cell differentiation; Prolactin signaling pathway

MyDisease.info · MONDO:0015279

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=3967) is 59.

3,106 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).

1,629 in the last 10 years · low confidence

Phrase hits: 3,106 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Okada S9 papers · 2026

    Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences.

    Papers in Europe PMC
  2. 02
    Puel A7 papers · 2026

    Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, Paris, France.

    Papers in Europe PMC
  3. 03
    Bousfiha 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
  4. 04
    Lionakis MS6 papers · 2026

    Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), NIAID, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  5. 05
    Tsumura 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
  6. 06
    Casanova JL5 papers · 2026

    Laboratory of Human Genetics of Infectious Diseases, INSERM, Paris, France.

    Papers in Europe PMC
  7. 07
    Tangye SG5 papers · 2026

    Garvan Institute of Medical Research, Darlinghurst, Australia.

    Papers in Europe PMC
  8. 08
    Wang 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
  9. 09
    Asano 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
  10. 10
    Chen 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 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.

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Chronic mucocutaneous candidiasis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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