ORPHA:352670
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Also known as: CMTDIF
Publications
954
Trials
0
Interventional, condition-specific
Researchers
72
Distinct authors in sample
Gene link
GNB4
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare motor and sensory disorder characterized by the typical CMT (slowly distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.
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:0014074
- OMIM:615185
- UMLS:C4749463
Additional Mondo synonyms (3)
Charcot-Marie-Tooth disease dominant intermediate type F · Charcot-Marie-Tooth disease, dominant Intermediate type F · autosomal dominant intermediate Charcot-Marie-Tooth disease type F
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
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 — GNB4
- LiteraturePresent
954 matched papers (730 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Absent Achilles reflex; Hyporeflexia; Steppage gait) 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 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 (GNB4).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
16
Associated phenotypes · MONDO:0014074
- Absent Achilles reflex
- Hyporeflexia
- Steppage gait
- Pes cavus
- Peripheral demyelination
Showing 5 of 16 — 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 2026-07-27
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?
954
954 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
954 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).
730 in the last 10 years · low confidence
Phrase hits: 12 · MeSH hits: 0
Who's working on it?
72
Distinct author names in 12 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.
- 01Battaloğlu E1 paper · 2022
Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.
Papers in Europe PMC - 02Bilen S1 paper · 2023
Ankara City Hospital, Neurology Department - Ankara, Turkey.
Papers in Europe PMC - 03Brophy PJ1 paper · 2020
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Papers in Europe PMC - 04Candayan A1 paper · 2022
Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.
Papers in Europe PMC - 05Çavdarlı B1 paper · 2023
Ankara City Hospital, Department of Medical Genetics - Ankara, Turkey.
Papers in Europe PMC - 06Ceylan GG1 paper · 2023
Ankara City Hospital, Department of Medical Genetics - Ankara, Turkey.
Papers in Europe PMC - 07Choi BO1 paper · 2021
Departments of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
Papers in Europe PMC - 08Chung KW1 paper · 2021
Department of Biological Sciences, Kongju National University, Gongju 32588, Korea.
Papers in Europe PMC - 09De Nittis P1 paper · 2019
Center for Integrative Genomics, University of Lausanne, CH-1015 Lausanne, Switzerland.
Papers in Europe PMC - 10Eichel MA1 paper · 2020
Department of Neurogenetics, Max Planck Institute of Experimental Medicine, Göttingen, Germany.
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 9 September 2026 · last trial check 9 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
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 2026-07-27
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 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F — 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.
("Autosomal dominant intermediate Charcot-Marie-Tooth disease type F" OR "CMTDIF" OR "Charcot-Marie-Tooth disease dominant intermediate type F" OR "Charcot-Marie-Tooth disease, dominant Intermediate type F") OR ("GNB4" OR "GNB4 syndrome" OR "GNB4-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F" OR "CMTDIF" OR "Charcot-Marie-Tooth disease dominant intermediate type F" OR "Charcot-Marie-Tooth disease, dominant Intermediate type F"
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: ok — strategies attempted: phrase; with hits: phrase
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
- Publication count (954) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T01:55:43.014Z