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ORPHA:65282

Carvajal syndrome

medium confidenceDisorder

Also known as: KWWH type II · Keratoderma with woolly hair type II · Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Publications

460

76.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

DSP

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic ectodermal syndrome characterized by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.

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)

DCWHK · arrhythmogenic cardiomyopathy with wooly hair and keratoderma · dilated cardiomyopathy with wooly hair and keratoderma · keratoderma with woolly hair type II · keratoderma with wooly hair type II · palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair · palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair · woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome · wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

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 — DSP

  2. LiteraturePresent

    460 matched papers (305 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Congestive heart failure; Dilated cardiomyopathy; Woolly hair) Source

  4. Animal modelPresent

    2 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 (DSP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0011581

  • Congestive heart failure
  • Dilated cardiomyopathy
  • Woolly hair
  • Patchy palmoplantar hyperkeratosis

Showing 4 of 28 — 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)

4 associated chemicals · 12 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Amiodarone · therapeutic
  • Carvedilol · therapeutic
  • Diuretics · therapeutic
  • Enalapril · therapeutic

Pathways: Arrhythmogenic right ventricular cardiomyopathy (ARVC); Apoptosis; Apoptotic cleavage of cellular proteins; Developmental Biology; Innate Immune System; Immune System; Apoptotic cleavage of cell adhesion proteins; Programmed Cell Death

MyDisease.info · MONDO:0011581

Literature

Is anyone studying this?

460

460 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=3967) is 59.

460 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).

305 in the last 10 years · medium confidence · 76.2th percentile (publications denominator)

Phrase hits: 320 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,221

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
    Asimaki A8 papers · 2026

    Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA.

    Papers in Europe PMC
  2. 02
    Basso C8 papers · 2026

    Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Medical School, University of Padua, 35121 Padova, Italy.

    Papers in Europe PMC
  3. 03
    Calkins H7 papers · 2026

    Division of Cardiology, Department of Medicine, Johns Hopkins Hospital, Baltimore, MD, United States.

    Papers in Europe PMC
  4. 04
    Pilichou K7 papers · 2026

    Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Medical School, University of Padua, 35121 Padova, Italy.

    Papers in Europe PMC
  5. 05
    Saffitz JE7 papers · 2025

    Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA.

    Papers in Europe PMC
  6. 06
    James CA6 papers · 2025

    Division of Cardiology, Department of Medicine, Johns Hopkins University, Johns Hopkins Hospital, Blalock 545, 600 North Wolfe Street, Baltimore, MD 21287, USA.

    Papers in Europe PMC
  7. 07
    Protonotarios A6 papers · 2026

    Department of Cardiology, St Bartholomew's Hospital, London EC1A 7BE, UK.

    Papers in Europe PMC
  8. 08
    Thiene G6 papers · 2026

    Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Medical School, University of Padua, 35121 Padova, Italy.

    Papers in Europe PMC
  9. 09
    Tsatsopoulou A6 papers · 2026

    Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Athens, Greece.

    Papers in Europe PMC
  10. 10
    Anastasakis A5 papers · 2026

    Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Athens, Greece.

    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.

medium 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 Carvajal 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.

("Carvajal syndrome" OR "KWWH type II" OR "Keratoderma with woolly hair type II" OR "Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" OR "Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" OR "Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" OR "Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" OR "DCWHK" OR "arrhythmogenic cardiomyopathy with wooly hair and keratoderma" OR "dilated cardiomyopathy with wooly hair and keratoderma" OR "keratoderma with wooly hair type II" OR "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" OR "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair") OR (MESH:"Cardiomyopathy dilated with woolly hair and keratoderma") OR ("DSP syndrome" OR "DSP-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cardiomyopathy dilated with woolly hair and keratoderma

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

"Carvajal syndrome" OR "KWWH type II" OR "Keratoderma with woolly hair type II" OR "Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" OR "Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" OR "Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" OR "Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" OR "DCWHK" OR "arrhythmogenic cardiomyopathy with wooly hair and keratoderma" OR "dilated cardiomyopathy with wooly hair and keratoderma" OR "keratoderma with wooly hair type II" OR "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" OR "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair" OR "Cardiomyopathy dilated with woolly hair and keratoderma"

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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T01:15:28.632Z