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ORPHA:99937

Autosomal dominant Charcot-Marie-Tooth disease type 2C

high confidenceDisorder

Also known as: CMT2C

Publications

147

61.9th percentile

Trials

2

Interventional, condition-specific

Researchers

872

Distinct authors in sample

Gene link

TRPV4

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor , characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4 · HMSN2C · TRPV4 Charcot-Marie-Tooth disease type 2 · autosomal dominant Charcot-Marie-Tooth disease type 2C

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.

  1. Gene identifiedPresent

    Strong — TRPV4

  2. LiteraturePresent

    147 matched papers (77 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (TRPV4).

GenCC classification: Strong.

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?

147

147 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.

147 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).

77 in the last 10 years · high confidence · 61.9th percentile (publications denominator)

Phrase hits: 147 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

872

Distinct author names in 147 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.

  1. 01
    Sumner CJ11 papers · 2025

    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. csumner1@jhmi.edu.

    Papers in Europe PMC
  2. 02
    Shy ME8 papers · 2025

    Departments of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Departments of Neurology, Wayne State University, Detroit, Michigan, USA.

    Papers in Europe PMC
  3. 03
    Timmerman V8 papers · 2019

    Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerpen, Belgium.

    Papers in Europe PMC
  4. 04
    Gaudet R7 papers · 2019

    Department of Molecular and Cellular Biology (J.V., R.G.), Harvard University, Cambridge; Division of Genetics (M.M.M., A.T.-P., C.G., A.H.B., N.C., B.T.D., N.Y.F., J.K., V.A.G.), Brigham Genomic Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston; Division of Genetics (E.E.), Boston Children's Hospital; and Division of Neurology (B.T.D.), Boston Children's Hospital, Harvard Medical School, MA.

    Papers in Europe PMC
  5. 05
    Dyck PJ6 papers · 2013

    Department of Neurology, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA

    Papers in Europe PMC
  6. 06
    McCray BA6 papers · 2025

    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  7. 07
    Shi Y6 papers · 2020

    The Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

    Papers in Europe PMC
  8. 08
    Deng HX5 papers · 2020

    Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. h-deng@northwestern.edu

    Papers in Europe PMC
  9. 09
    Reilly MM5 papers · 2025

    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

    Papers in Europe PMC
  10. 10
    Siddique T5 papers · 2020

    The Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 42 trials are registered for Charcot-Marie-Tooth disease, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: Charcot-Marie-Tooth disease

42

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.

Recruiting under the broader category

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

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 2026-07-26

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.

"Autosomal dominant Charcot-Marie-Tooth disease type 2C" OR "CMT2C" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4" OR "HMSN2C" OR "TRPV4 Charcot-Marie-Tooth disease type 2"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant Charcot-Marie-Tooth disease type 2C" OR "CMT2C" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4" OR "HMSN2C" OR "TRPV4 Charcot-Marie-Tooth disease type 2" OR "TRPV4"

Recall-expansion terms: TRPV4

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Charcot-Marie-Tooth disease"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T06:42:52.824Z