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ORPHA:443073

Charcot-Marie-Tooth disease type 2S

high confidenceDisorder

Also known as: CMT2S

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

110

66.4th percentile

Trials

1

Interventional, condition-specific

Researchers

678

Distinct authors in sample

Gene link

IGHMBP2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of axonal motor and sensory characterized by distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.

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 (2)

Charcot-Marie-Tooth disease caused by mutation in IGHMBP2 · IGHMBP2 Charcot-Marie-Tooth disease

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

    Definitive — IGHMBP2

  2. LiteraturePresent

    110 matched papers (101 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

    1 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 (IGHMBP2).

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?

110

110 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.

110 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).

101 in the last 10 years · high confidence · 66.4th percentile (publications denominator)

Phrase hits: 110 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

678

Distinct author names in 110 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
    Lorson CL7 papers · 2026

    Department of Veterinary Pathobiology, College of Veterinary Medicine, and.

    Papers in Europe PMC
  2. 02
    Lorson MA7 papers · 2026

    Department of Veterinary Pathobiology, College of Veterinary Medicine, and.

    Papers in Europe PMC
  3. 03
    Burgess RW5 papers · 2026

    The Jackson Laboratory, Bar Harbor, ME 04609, USA; The Graduate School of Biomedical Science and Engineering, University of Maine, Orono, ME 04469, USA. Electronic address: Robert.burgess@jax.org.

    Papers in Europe PMC
  4. 04
    Kochański A5 papers · 2025

    Neuromuscular Unit, Mossakowski Medical Research Institute Polish Academy of Sciences, 02-106 Warsaw, Poland.

    Papers in Europe PMC
  5. 05
    Nichols NL5 papers · 2026

    Department of Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.

    Papers in Europe PMC
  6. 06
    Smith CL5 papers · 2026

    Department of Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.

    Papers in Europe PMC
  7. 07
    Comi GP4 papers · 2026

    Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Liu L4 papers · 2025

    Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  9. 09
    Reilly MM4 papers · 2024

    Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  10. 10
    Rzepnikowska W4 papers · 2025

    Department of Neuromuscular Disorders, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial 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

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

"Charcot-Marie-Tooth disease type 2S" OR "CMT2S" OR "IGHMBP2 Charcot-Marie-Tooth disease"

Run this search on Europe PMC

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

"Charcot-Marie-Tooth disease type 2S" OR "CMT2S" OR "IGHMBP2 Charcot-Marie-Tooth disease" OR "IGHMBP2"

Recall-expansion terms: IGHMBP2

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Charcot-Marie-Tooth disease"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: Charcot-Marie-Tooth disease caused by mutation in IGHMBP2

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 2026-07-27T16:24:06.655Z