ORPHA:100046
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Also known as: CMTDID
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
26
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
162
Distinct authors in sample
Gene link
—
Readiness
1/6
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 axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity ( muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
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:0011909
- MeSH:C564333
- OMIM:607791
- UMLS:C1843075
Additional Mondo synonyms (6)
Charcot-Marie-Tooth disease caused by mutation in MPZ · Charcot-Marie-Tooth disease dominant intermediate type D · Charcot-Marie-Tooth disease, dominant Intermediate type D · DI-CMTD · MPZ Charcot-Marie-Tooth disease · autosomal dominant intermediate Charcot-Marie-Tooth disease type D
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
26 matched papers (18 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?
26
26 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.
26 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).
18 in the last 10 years · high confidence · 35.6th percentile (publications denominator)
Phrase hits: 26 · MeSH hits: 0
Who's working on it?
162
Distinct author names in 26 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.
- 01Cavallaro T2 papers · 2022
Neurology Division, Department of Neuroscience, AOUI Verona, Verona, Italy.
Papers in Europe PMC - 02Choi BO2 papers · 2021
Stem Cell & Regenerative Medicine Center and Neuroscience Center, Samsung Medical Center, Seoul 06351, Korea.
Papers in Europe PMC - 03Chung KW2 papers · 2021
Department of Biological Sciences, Kongju National University, Gongju 32588, Korea.
Papers in Europe PMC - 04Fabrizi GM2 papers · 2022
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; Neurology Division, Department of Neuroscience, AOUI Verona, Verona, Italy.
Papers in Europe PMC - 05Lupski JR2 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.
Papers in Europe PMC - 06Nam SH2 papers · 2021
Department of Biological Sciences, Kongju National University, Gongju 32588, Korea.
Papers in Europe PMC - 07Okamoto Y2 papers · 2023
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Papers in Europe PMC - 08Reilly MM2 papers · 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Papers in Europe PMC - 09Rossor AM2 papers · 2024
MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
Papers in Europe PMC - 10Taioli F2 papers · 2022
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; Neurology Division, Department of Neuroscience, AOUI Verona, Verona, 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 D" OR "CMTDID" OR "Charcot-Marie-Tooth disease dominant intermediate type D" OR "Charcot-Marie-Tooth disease, dominant Intermediate type D" OR "DI-CMTD" OR "MPZ Charcot-Marie-Tooth disease"
MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth Disease, Dominant Intermediate D
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D" OR "CMTDID" OR "Charcot-Marie-Tooth disease dominant intermediate type D" OR "Charcot-Marie-Tooth disease, dominant Intermediate type D" OR "DI-CMTD" OR "MPZ Charcot-Marie-Tooth disease" OR "Charcot-Marie-Tooth Disease, Dominant Intermediate D"
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, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: Charcot-Marie-Tooth disease caused by mutation in MPZ
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 2026-07-27T06:56:46.161Z