ORPHA:93114
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Also known as: CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome
Publications
2,198
Trials
0
Interventional, condition-specific
Researchers
241
Distinct authors in sample
Gene link
INF2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare motor and sensory disorder characterized by the typical CMT (slowly distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).
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:0013758
- OMIM:614455
- UMLS:C4302667
Additional Mondo synonyms (5)
Charcot-Marie-Tooth disease dominant intermediate E · Charcot-Marie-Tooth disease dominant intermediate type E · Charcot-Marie-Tooth disease, dominant Intermediate type E · Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis · autosomal dominant intermediate Charcot-Marie-Tooth disease type E
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
Definitive — INF2
- LiteraturePresent
2,198 matched papers (1,564 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Focal segmental glomerulosclerosis; Distal lower limb amyotrophy; Hammertoe) 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 (INF2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
19
Associated phenotypes · MONDO:0013758
- Focal segmental glomerulosclerosis
- Distal lower limb amyotrophy
- Hammertoe
- Stage 5 chronic kidney disease
- Claw hand deformity
Showing 5 of 19 — 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?
2,198
2,198 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.
2,198 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).
1,564 in the last 10 years · low confidence
Phrase hits: 35 · MeSH hits: 0
Who's working on it?
241
Distinct author names in 35 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.
- 01Alonso MA3 papers · 2024
Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
Papers in Europe PMC - 02Labat-de-Hoz L3 papers · 2024
Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
Papers in Europe PMC - 03Häusler M2 papers · 2016
Division of Neuropediatrics and Social Pediatrics Department of Pediatrics University Hospital RWTH Aachen Aachen Germany.
Papers in Europe PMC - 04Lefranc G2 papers · 2022
Institut de Génétique Humaine, UMR 9002 CNRS-Université de Montpellier, France.
Papers in Europe PMC - 05Reilly MM2 papers · 2024
Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square institute of Neurology and National Hospital for Neurology and Neurosurgery.
Papers in Europe PMC - 06Rossor 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 - 07Weis J2 papers · 2016
Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany.
Papers in Europe PMC - 08Yang L2 papers · 2021
Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 09Abbasi AA1 paper · 2014
Department of Zoology, University of Azad Jammu and Kashmir, 13100 Muzaffarabad, Pakistan.
Papers in Europe PMC - 10
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 11 September 2026 · last trial check 11 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 2026-07-30
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 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E — 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 E" OR "CMTDIE" OR "Charcot-Marie-Tooth disease-nephropathy syndrome" OR "Charcot-Marie-Tooth disease dominant intermediate E" OR "Charcot-Marie-Tooth disease dominant intermediate type E" OR "Charcot-Marie-Tooth disease, dominant Intermediate type E" OR "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis") OR ("INF2" OR "INF2 syndrome" OR "INF2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type E" OR "CMTDIE" OR "Charcot-Marie-Tooth disease-nephropathy syndrome" OR "Charcot-Marie-Tooth disease dominant intermediate E" OR "Charcot-Marie-Tooth disease dominant intermediate type E" OR "Charcot-Marie-Tooth disease, dominant Intermediate type E" OR "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis"
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 (2198) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T04:07:11.122Z