ORPHA:93114
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Also known as: CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
35
41.8th percentile
Trials
0
Interventional, condition-specific
Researchers
241
Distinct authors in sample
Gene link
INF2
Definitive
Readiness
2/6
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.”
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
Definitive — INF2
- LiteraturePresent
35 matched papers (27 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 (INF2).
GenCC classification: Definitive.
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?
35
35 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.
35 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).
27 in the last 10 years · high confidence · 41.8th percentile (publications denominator)
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 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 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"
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" OR "INF2"
Recall-expansion terms: INF2
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
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 2026-07-27T04:07:11.122Z