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

661

Trials

1

Interventional, condition-specific

Researchers

1,113

Distinct authors in sample

Gene link

EGR2, PMP22, PRX

Strong

Readiness

3/6

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — EGR2, PMP22, PRX

  2. LiteraturePresent

    661 matched papers (181 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

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?

661

661 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=5449) is 41.

661 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).

181 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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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"

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" OR "EGR2" OR "PMP22" OR "PRX"

Recall-expansion terms: EGR2, PMP22, PRX

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (661) 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