ORPHA:90103
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Also known as: CMT-deafness-intellectual disability syndrome · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome · Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers
Query health: suspect — Source fetch failed for trials.
Publications
10
22.8th percentile
Trials
—
Interventional, condition-specific
Researchers
64
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Charcot-Marie-Tooth disease-deafness- syndrome is a rare demyelinating motor and sensory characterized by early-onset, slowly , distal muscular weakness and atrophy with no sensory impairment, sensorineural deafness and mild (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
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:0008960
- OMIM:214370
- UMLS:C1861669
Additional Mondo synonyms (2)
hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
10 matched papers (6 in last 10 years) Source
- Phenotype characterisedPresent
30 HPO annotations (e.g. Axonal degeneration; Decreased nerve conduction velocity; Mild intellectual disability) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot checked
Trial fetch failed or incomplete
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)
30
Associated phenotypes · MONDO:0008960
- Axonal degeneration
- Decreased nerve conduction velocity
- Mild intellectual disability
- Decreased number of large peripheral myelinated nerve fibers
- Decreased amplitude of sensory action potentials
Showing 5 of 30 — 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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
10
10 papers have ever been indexed 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=3967) is 59.
10 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).
6 in the last 10 years · high confidence · 22.8th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
64
Distinct author names in 10 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.
- 01Gorukmez O2 papers · 2021
Department of Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
Papers in Europe PMC - 02Abou Ghoch J1 paper · 2015
Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, rue de Damas B.P. 17-5208 Mar Mikhael, Beyrouth, 11042020 Lebanon.
Papers in Europe PMC - 03Acharya A1 paper · 2023
Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Papers in Europe PMC - 04Akhtar A1 paper · 2020
Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany. akhtar@ie-freiburg.mpg.de.
Papers in Europe PMC - 05Al-Tawashi A1 paper · 2013
Center for Molecular Discovery, Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, 77030 Houston, TX, USA. aaltawashi@gmail.com.
Papers in Europe PMC - 06Alam MR1 paper · 2023
Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan.
Papers in Europe PMC - 07Ansar M1 paper · 2023
Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan. ansar@qau.edu.pk.
Papers in Europe PMC - 08Bamshad MJ1 paper · 2023
Department of Genome Sciences, University of Washington, William H. Foege Hall, 3720 15th Ave. NE, Seattle, WA, 98195, USA.
Papers in Europe PMC - 09Basilicata MF1 paper · 2020
Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany.
Papers in Europe PMC - 10Bird MJ1 paper · 2020
Department of Chronic Diseases, Metabolism and Ageing, Katholieke Universiteit Leuven, Herestraat 49, 3000, Leuven, Belgium.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 11 September 2026 · last trial check 31 July 2026
high confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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 2026-07-30
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 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome — check Associations / patient organisations on that page.
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.
"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome" OR "CMT-deafness-intellectual disability syndrome" OR "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" OR "Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers" OR "Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers" OR "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome"
Query health: suspect — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Charcot-Marie-Tooth%20disease-deafness-intellectual%20disability%20syndrome%22%20OR%20%22CMT-deafness-intellectual%20disability%20syndrome%22%20OR%20%22Charcot-Marie-Tooth%20disease-hearing%20loss-intellectual%20disability%20syndrome%22%20OR%20%22Hereditary%20motor%20and%20sensory%20neuropathy%20with%20deafness%2C%20intellectual%20disability%20and%20absent%20sensory%20large%20myelinated%20fibers%22%20OR%20%22Hereditary%20motor%20and%20sensory%20neuropathy%20with%20hearing%20loss%2C%20intellectual%20disability%20and%20absent%20sensory%20large%20myelinated%20fibers%22%20OR%20%22hereditary%20motor%20and%20sensory%20neuropathy%20with%20deafness%2C%20intellectual%20disability%20and%20absent%20sensory%20large%20myelinated%20fibres%22&format=json&pageSize=100&countTotal=true
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 2026-07-27T03:38:41.859Z