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ORPHA:163746

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

low confidenceDisorder

Also known as: Neurologic Waardenburg-Shah syndrome · PCWH · WS4 plus

Publications

17,031

Trials

0

Interventional, condition-specific

Researchers

279

Distinct authors in sample

Gene link

SOX10

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Peripheral demyelinating -central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

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 (2)

neurologic Waardenburg-Shah syndrome · peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease

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

    Definitive — SOX10

  2. LiteraturePresent

    17,031 matched papers (13,397 in last 10 years) Source

  3. Phenotype characterisedPresent

    88 HPO annotations (e.g. Nystagmus; Intellectual disability; Global developmental delay) 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 (SOX10).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

88

Associated phenotypes · MONDO:0012198

  • Nystagmus
  • Intellectual disability
  • Global developmental delay
  • Abdominal pain
  • Peripheral neuropathy

Showing 5 of 88 — 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?

17,031

17,031 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.

17,031 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).

13,397 in the last 10 years · low confidence

Phrase hits: 30 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

279

Distinct author names in 30 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
    Pingault V6 papers · 2025

    Equipe 11, Institut National de la Santé et de la Recherche Médicale Unité 955, 94000 Créteil, France. veronique.pingault@inserm.fr

    Papers in Europe PMC
  2. 02
    Bondurand N3 papers · 2022

    Department of Embryology and Genetics of Malformations, INSERM UMR 1163, Université de Paris and Institut Imagine, Paris, France veronique.pingault@inserm.fr nadege.bondurand@inserm.fr.

    Papers in Europe PMC
  3. 03
    Marlin S3 papers · 2025

    Department of Genetics, Necker Hospital, CRMR Surdités Génétiques, Service Médecine Génomique des Maladies Rares, UF Développement et Morphogenèse, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.

    Papers in Europe PMC
  4. 04
    Wegner M3 papers · 2024

    Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, D91054 Erlangen, Germany.

    Papers in Europe PMC
  5. 05
    Baral V2 papers · 2013
    Papers in Europe PMC
  6. 06
    Barske L2 papers · 2025

    Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

    Papers in Europe PMC
  7. 07
    Bertani-Torres W2 papers · 2023

    Centro de Estudos sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo 05508-090, Brazil.

    Papers in Europe PMC
  8. 08
    Chaoui A2 papers · 2013

    INSERM U955, Hôpital Henri Mondor, Créteil, France.

    Papers in Europe PMC
  9. 09
    Duan C2 papers · 2025

    Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA.

    Papers in Europe PMC
  10. 10
    Elmaleh-Bergès M2 papers · 2025

    Departments of Pediatric Imaging, Hôpital Robert Debré, Paris, France. monique.elmaleh@rdb.aphp.fr

    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 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 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease — 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.

("Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" OR "Neurologic Waardenburg-Shah syndrome" OR "WS4 plus" OR "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease") OR (MESH:"Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease") OR ("SOX10" OR "SOX10 syndrome" OR "SOX10-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease

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

"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" OR "Neurologic Waardenburg-Shah syndrome" OR "WS4 plus" OR "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PCWH

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 (17031) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:14:02.880Z