RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:64748

Dejerine-Sottas syndrome

low confidenceDisorder

Also known as: Charcot-Marie-Tooth disease type 3 · HMSN 3 · HMSN III · Hereditary motor and sensory neuropathy type 3 · Hereditary motor and sensory neuropathy type III

Publications

12,724

Trials

0

Interventional, condition-specific

Researchers

1,113

Distinct authors in sample

Gene link

EGR2, PMP22, PRX

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A clinical entity that represents a severe of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.

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 (9)

CMT3 · Charcot-Marie-Tooth disease, type 3 · Dejerine-Sottas Syndrome · Dejerine-Sottas neuropathy · HMSN3 · dejerine-sottas disease · hereditary motor and sensory neuropathy type 3 · hereditary motor and sensory neuropathy type III · hypertrophic neuropathy of Dejerine-Sottas

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — EGR2, PMP22, PRX

  2. LiteraturePresent

    12,724 matched papers (7,656 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Nystagmus; Hypotonia; Distal muscle weakness) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. 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 (EGR2, PMP22, PRX).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0007790

  • Nystagmus
  • Hypotonia
  • Distal muscle weakness
  • Motor delay
  • Decreased sensory nerve conduction velocity

Showing 5 of 32 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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?

12,724

12,724 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,724 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).

7,656 in the last 10 years · low confidence

Phrase hits: 661 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,113

Distinct author names in 200 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
    Fabrizi GM7 papers · 2025

    Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Policlinico Giambattista Rossi, via delle Menegone 10, 37134 Verona, Italy. fabrizi@borgoroma.univr.it

    Papers in Europe PMC
  2. 02
    Kursula P7 papers · 2025

    Department of Biomedicine, University of Bergen, Jonas Lies vei 91, NO-5009 Bergen, Norway.

    Papers in Europe PMC
  3. 03
    Pareyson D7 papers · 2026

    15 Departments of Clinical Neurosciences, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Raasakka A7 papers · 2025

    Department of Biomedicine, University of Bergen, Jonas Lies vei 91, NO-5009 Bergen, Norway.

    Papers in Europe PMC
  5. 05
    Takashima H7 papers · 2026

    Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.

    Papers in Europe PMC
  6. 06
    Krokengen OC6 papers · 2025

    Department of Biomedicine, University of Bergen, Norway.

    Papers in Europe PMC
  7. 07
    Li J6 papers · 2026

    7 Department of Neurology, Vanderbilt University, Nashville, TN, USA.

    Papers in Europe PMC
  8. 08
    Cavallaro T5 papers · 2024

    Dipartimento di Neuroscienze, Biomedicina e Movimento, Università di Verona, Verona, Italy.

    Papers in Europe PMC
  9. 09
    Chance PF5 papers · 2004

    Neurogenetics Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA. pchance@u.washington.edu

    Papers in Europe PMC
  10. 10
    Hayasaka K5 papers · 2010

    Dept. of Pediatrics, Yamagata University School of Medicine.

    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 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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).

Uncertain / not reviewed (7)

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 Dejerine-Sottas syndrome — 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.

("Dejerine-Sottas syndrome" OR "Charcot-Marie-Tooth disease type 3" OR "HMSN 3" OR "HMSN III" OR "Hereditary motor and sensory neuropathy type 3" OR "Hereditary motor and sensory neuropathy type III" OR "Charcot-Marie-Tooth disease, type 3" OR "Dejerine-Sottas neuropathy" OR "HMSN3" OR "dejerine-sottas disease" OR "hypertrophic neuropathy of Dejerine-Sottas" OR "hypertrophic neuropathy of the Dejerine-Sottas") OR ("EGR2" OR "EGR2 syndrome" OR "EGR2-related" OR "PMP22" OR "PMP22 syndrome" OR "PMP22-related" OR "PRX syndrome" OR "PRX-related")

Run this search on Europe PMC

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

"Dejerine-Sottas syndrome" OR "Charcot-Marie-Tooth disease type 3" OR "HMSN 3" OR "HMSN III" OR "Hereditary motor and sensory neuropathy type 3" OR "Hereditary motor and sensory neuropathy type III" OR "Charcot-Marie-Tooth disease, type 3" OR "Dejerine-Sottas neuropathy" OR "HMSN3" OR "dejerine-sottas disease" OR "hypertrophic neuropathy of Dejerine-Sottas" OR "hypertrophic neuropathy of the Dejerine-Sottas"

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

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CMT3

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (12724) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:12:30.353Z