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ORPHA:99014

X-linked Charcot-Marie-Tooth disease type 5

low confidenceDisorder

Also known as: CMT5X · CMTX5

Publications

2,001

Trials

0

Interventional, condition-specific

Researchers

1,004

Distinct authors in sample

Gene link

PRPS1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic peripheral sensorimotor characterized by infancy-to childhood onset of distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and optic .

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (11)

Charcot-Marie-Tooth disease X-linked recessive type 5 · Charcot-Marie-Tooth disease, X-linked recessive, 5 · Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive · Charcot-Marie-Tooth disease, X-linked recessive, type 5 · Charcot-Marie-Tooth neuropathy X type 5 · Charcot-Marie-Tooth neuropathy, X-linked recessive, 5 · Rosenberg Chutorian Syndrome · Rosenberg-Chutorian syndrome · familial opticoacoustic nerve degeneration and polyneuropathy · optic atrophy, polyneuropathy, and deafness · optic atrophy, sensorineural hearing loss and polyneuropathy

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — PRPS1

  2. LiteraturePresent

    2,001 matched papers (1,242 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Progressive visual loss; Distal muscle weakness; Segmental peripheral demyelination/remyelination) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 42 for broader category Charcot-Marie-Tooth disease

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 (PRPS1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

35

Associated phenotypes · MONDO:0010699

  • Progressive visual loss
  • Distal muscle weakness
  • Segmental peripheral demyelination/remyelination
  • Distal sensory impairment
  • Optic atrophy

Showing 5 of 35 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

2,001

2,001 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.

2,001 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).

1,242 in the last 10 years · low confidence

Phrase hits: 149 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,004

Distinct author names in 149 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.

  1. 01
    Yan D5 papers · 2025

    Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.

    Papers in Europe PMC
  2. 02
    Li J4 papers · 2025

    Department of Otolaryngology Head and Neck Surgery, Fuzhou general hospital of Nanjing Command, PLA, Fuzhou 350025, China.

    Papers in Europe PMC
  3. 03
    Liu XZ4 papers · 2025

    Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.

    Papers in Europe PMC
  4. 04
    Moosajee M4 papers · 2026

    UCL Institute of Ophthalmology, University College London, London, UK.

    Papers in Europe PMC
  5. 05
    Yang J4 papers · 2025

    Department of Biostatistics, Health Informatics and Data Sciences, University of Cincinnati College of Medicine, Cincinnati, OH, 45267, USA; Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.

    Papers in Europe PMC
  6. 06
    Chen H3 papers · 2025

    1] Department of Pharmacology, School of Basic Medicine and Collaborative Innovation Center for Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China. [2] Collaborative Innovation Center of Systems Biomedicine, National Research Center for Translational Medicine, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Chen Y3 papers · 2025

    1] Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Department of Hematology and Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. [2] Pediatric Translational Medicine Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Christodoulou J3 papers · 2013

    Director and Genomic Medicine Theme and Group Co-Leader, Brain and Mitochondrial Research Group, Murdoch Children's Research Institute;, Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, Melbourne, Australia

    Papers in Europe PMC
  9. 09
    de Brouwer AP3 papers · 2014

    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute of Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. a.debrouwer@antrg.umcn.nl

    Papers in Europe PMC
  10. 10
    Guo Y3 papers · 2025

    Department of Otolaryngology, The Second Hospital of Jilin University, Changchun, Jilin, China.

    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). 42 trials are registered for Charcot-Marie-Tooth disease, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

42 interventional trials matched Charcot-Marie-Tooth disease, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Charcot-Marie-Tooth disease

42

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 X-linked Charcot-Marie-Tooth disease type 5 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("X-linked Charcot-Marie-Tooth disease type 5" OR "CMT5X" OR "CMTX5" OR "Charcot-Marie-Tooth disease X-linked recessive type 5" OR "Charcot-Marie-Tooth disease, X-linked recessive, 5" OR "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive" OR "Charcot-Marie-Tooth disease, X-linked recessive, type 5" OR "Charcot-Marie-Tooth neuropathy X type 5" OR "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5" OR "Rosenberg Chutorian Syndrome" OR "Rosenberg-Chutorian syndrome" OR "familial opticoacoustic nerve degeneration and polyneuropathy" OR "optic atrophy, polyneuropathy, and deafness" OR "optic atrophy, sensorineural hearing loss and polyneuropathy") OR ("PRPS1" OR "PRPS1 syndrome" OR "PRPS1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"X-linked Charcot-Marie-Tooth disease type 5" OR "CMT5X" OR "CMTX5" OR "Charcot-Marie-Tooth disease X-linked recessive type 5" OR "Charcot-Marie-Tooth disease, X-linked recessive, 5" OR "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive" OR "Charcot-Marie-Tooth disease, X-linked recessive, type 5" OR "Charcot-Marie-Tooth neuropathy X type 5" OR "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5" OR "Rosenberg Chutorian Syndrome" OR "Rosenberg-Chutorian syndrome" OR "familial opticoacoustic nerve degeneration and polyneuropathy" OR "optic atrophy, polyneuropathy, and deafness" OR "optic atrophy, sensorineural hearing loss and polyneuropathy"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"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 (2001) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:53:46.598Z