ORPHA:100044
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Also known as: CMTDIB
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
70
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
392
Distinct authors in sample
Gene link
DNM2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare motor and sensory characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
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:0011674
- OMIM:606482
- UMLS:C1847902
Additional Mondo synonyms (7)
CMTDI1 · Charcot-Marie-Tooth disease caused by mutation in DNM2 · Charcot-Marie-Tooth disease dominant intermediate type B · Charcot-Marie-Tooth disease, axonal type 2M · Charcot-Marie-Tooth disease, dominant Intermediate type B · DI-CMTB · DNM2 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — DNM2
- LiteraturePresent
70 matched papers (31 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?
Yes — we know a specific gene responsible (DNM2).
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?
70
70 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.
70 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).
31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)
Phrase hits: 70 · MeSH hits: 0
Who's working on it?
392
Distinct author names in 70 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.
- 01Laporte J8 papers · 2025
Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Chaire de Génétique Humaine, Illkirch, France. INSERM UMR974, F-75013, Paris, France. CNRS, UMR7215, F-75013, Paris, France. Sorbonne Universités, Université Pierre et Marie Curie–Paris 6, UM76, F-75005, Paris France. Institut de Myologie, F-75013, Paris France. Université Paris Descartes, Paris Sorbonne Cité, F-75006, Paris, France. Department of Pediatrics, Strasbourg-Hautepierre University Hospital, Strasbourg, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Université Pierre et Marie Curie–Paris 6, UM76, F-75013, Paris, France. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.
Papers in Europe PMC - 02Shy ME4 papers · 2013Papers in Europe PMC
- 03Timmerman V4 papers · 2017
Peripheral Neuropathy Research Group, Institute Born Bunge, University of AntwerpAntwerpen, Belgium.
Papers in Europe PMC - 04Cowling BS3 papers · 2021
Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Chaire de Génétique Humaine, Illkirch, France. INSERM UMR974, F-75013, Paris, France. CNRS, UMR7215, F-75013, Paris, France. Sorbonne Universités, Université Pierre et Marie Curie–Paris 6, UM76, F-75005, Paris France. Institut de Myologie, F-75013, Paris France. Université Paris Descartes, Paris Sorbonne Cité, F-75006, Paris, France. Department of Pediatrics, Strasbourg-Hautepierre University Hospital, Strasbourg, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Université Pierre et Marie Curie–Paris 6, UM76, F-75013, Paris, France. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.
Papers in Europe PMC - 05De Jonghe P3 papers · 2009Papers in Europe PMC
- 06Jungbluth H3 papers · 2014
Neuromuscular Service, Department of Paediatric Neurology, Evelina Children's Hospital, St Thomas' Hospital , London , UK ; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London , London , UK ; Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King's College London BHF Centre of Research Excellence , London , UK.
Papers in Europe PMC - 07Suter U3 papers · 2020
Department of Biology, Institute of Molecular Health Sciences, Swiss Federal Institute of Technology, ETH Zurich, Zurich, Switzerland.
Papers in Europe PMC - 08Vance JM3 papers · 2009Papers in Europe PMC
- 09Züchner S3 papers · 2009
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA.
Papers in Europe PMC - 10Bragato C2 papers · 2016
Neuromuscular Diseases and Neuroimmunology Unit, IRCCS Neurological Institute C. Besta, Milano, Italy.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
high 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.
Broader category autosomal dominant intermediate Charcot-Marie-Tooth disease also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: autosomal dominant intermediate Charcot-Marie-Tooth disease
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" OR "CMTDIB" OR "CMTDI1" OR "Charcot-Marie-Tooth disease dominant intermediate type B" OR "Charcot-Marie-Tooth disease, axonal type 2M" OR "Charcot-Marie-Tooth disease, dominant Intermediate type B" OR "DI-CMTB" OR "DNM2 Charcot-Marie-Tooth disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" OR "CMTDIB" OR "CMTDI1" OR "Charcot-Marie-Tooth disease dominant intermediate type B" OR "Charcot-Marie-Tooth disease, axonal type 2M" OR "Charcot-Marie-Tooth disease, dominant Intermediate type B" OR "DI-CMTB" OR "DNM2 Charcot-Marie-Tooth disease" OR "DNM2"
Recall-expansion terms: DNM2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal dominant intermediate 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 DNM2
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 2026-07-27T06:56:26.708Z