ORPHA:476096
Erythrokeratodermia-cardiomyopathy syndrome
Also known as: EKC syndrome
Publications
176
62th percentile
Trials
0
Interventional, condition-specific
Researchers
146
Distinct authors in sample
Gene link
DSP
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Erythrokeratodermia- syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, dilated , palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail , and dental enamel anomalies. Variable features include , , and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018774
- MONDO:0014355
- OMIM:615821
- UMLS:C4014393
Additional Mondo synonyms (4)
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis · dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis · dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis · erythrokeratodermia-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.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — DSP
- LiteraturePresent
176 matched papers (138 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Ichthyosis; Pruritus; Tooth agenesis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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: Strong.
Phenotypes (Monarch / HPO)
16
Associated phenotypes · MONDO:0018774
- Ichthyosis
- Pruritus
- Tooth agenesis
- Woolly hair
- Parakeratosis
Showing 5 of 16 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
176
176 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.
176 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).
138 in the last 10 years · high confidence · 62th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
146
Distinct author names in 21 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.
- 01Choate KA6 papers · 2026
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address: keith.choate@yale.edu.
Papers in Europe PMC - 02Green KJ3 papers · 2019
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL kgreen@northwestern.edu.
Papers in Europe PMC - 03Zhou J3 papers · 2026
Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA.
Papers in Europe PMC - 04Boyden LM2 papers · 2017
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Papers in Europe PMC - 05Craiglow BG2 papers · 2017
Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA.
Papers in Europe PMC - 06Hu R2 papers · 2017
Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA.
Papers in Europe PMC - 07Kam CY2 papers · 2018
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Papers in Europe PMC - 08Lifton RP2 papers · 2017
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Papers in Europe PMC - 09Paller AS2 papers · 2018
Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Papers in Europe PMC - 10Wine Lee L2 papers · 2021
Medical University of South Carolina Health, Charleston, SC, USA.
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.
high 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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)
- ctis·2026-526526-41-01·Authorised·Within-Patient Comparison of Serum Transthyretin Response to Tafamidis Versus Acoramidis: A Pilot Crossover Study in Transthyretin Amyloid Cardiomyopathy (ATTR-CM)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523908-75-00·Authorised·A Phase IIb, randomised, double-blind, placebo-controlled, multicentre study to evaluate the efficacy and safety of concomitant use of eplontersen and ALXN2220 compared with eplontersen and placebo in adult participants with transthyretin-mediated amyloid cardiomyopathy (ATTR-CM).
skipped — LLM skipped (--skip-llm)
- ctis·2025-524722-17-00·Authorised·Short and long-term Hemodynamic and Physiological Effects of Mavacamten in Obstructive Hypertrophic Cardiomyopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-525008-12-00·Authorised·An open-label multiple dose safety, tolerability and exploratory efficacy clinical trial of PST-611 in patients with geographic atrophy secondary to age-related macular degeneration
skipped — LLM skipped (--skip-llm)
- ctis·2025-523374-17-03·Authorised·Insulin resistance in type 2 diabetes: evaluating the pathogenic mechanisms of insulin resistance in the myocardium and the effects of the treatments with GLP-1RA and SGLT2i
skipped — LLM skipped (--skip-llm)
- ctis·2025-523616-36-00·Authorised·Exploratory study evaluating the relevance of [68Ga]Ga-FAPI-46 for staging and identifying progressing patients with transthyretin cardiac amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-521831-35-00·Authorised, recruiting·(23026) A prospective, single-arm, Phase 4 study to evaluate the course of serum transthyretin (TTR) level with acoramidis in adult patients with variant or wild-type transthyretin amyloidosis with cardiomyopathy (ATTR-CM) previously treated with tafamidis.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524029-41-00·Authorised, recruiting·A Pilot Study on the Use of Gadopiclenol for Enhanced Cardiac MRI in Children with Congenital Heart Conditions: A self-controlled, non-randomised, open-label study to compare the image quality and diagnostic performance of gadopiclenol versus gadoterate meglumine
skipped — LLM skipped (--skip-llm)
- ctis·2025-522553-19-00·Authorised, recruiting·A Phase 2b/3, Adaptive, Randomized, Double-blind, Placebo-controlled, Multicenter Study to Assess the Efficacy and Safety of Danicamtiv in Participants with Symptomatic Genetic and Familial Dilated Cardiomyopathy (KINSHIP-DCM).
skipped — LLM skipped (--skip-llm)
- ctis·2024-520086-31-00·Authorised, ongoing·HYDrochlorothiazidE compared to valsartan to treat arterial hypertension in patients with Hypertrophic obstructive CardioMyopathy – the multicenter, randomized, double-blind, controlled, crossover HYDE-HCM Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-518899-31-00·Authorised, ongoing·CLEOPATTRA: Effects of NNC6019-0001 versus placebo on cardiovascular outcomes in participants with transthyretin amyloid cardiomyopathy (ATTR-CM).
skipped — LLM skipped (--skip-llm)
- ctis·2025-520837-22-00·Cancelled·A Danish, double-blind, randomized placebo-controlled clinical trial evaluating allogeneic adipose tissue derived mesenchymal stromal cell therapy in patients with recently diagnosed non-ischemic heart failure with reduced ejection fraction.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515125-28-00·Authorised, ongoing·A Global Phase 2b, Randomized, Double-Blinded, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Ninerafaxstat in Patients with Symptomatic Non Obstructive Hypertrophic Cardiomyopathy – FORTITUDE-HCM
skipped — LLM skipped (--skip-llm)
- ctis·2025-522002-20-00·Authorised, ongoing·A trial to learn how safe AZD4063 is, how it moves throughout the body over time, and how it affects the levels of PLN mRNA in adults with dilated cardiomyopathy because of an R14del mutation in the PLN gene
skipped — LLM skipped (--skip-llm)
- ctis·2025-521780-12-00·Authorised, recruiting·Withdrawal of neurohormonal therapy in patients with non-ischemic cardiomyopathy, no late gadolinium enhancement, and negative genetic testing, who have exhibited super-response to cardiac resynchronization therapy. DRUGLESS-CRT clinical trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513676-18-00·Authorised·A Phase 3, Open-Label, Multicenter, Extension Study of Acoramidis in Patients with Newly Diagnosed Variant Transthyretin Amyloid Cardiomyopathy (ACT-EARLY OLE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521408-24-00·Authorised, ongoing·Low dose corticosteroids adjacent to enzyme replacement therapy or chaperon therapy in patients with cardiac manifestation of Fabry disease – prospective randomized controlled phase III trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-519674-40-00·Authorised, recruiting·A Phase 1/2, Open-Label, Dose Finding Study to Investigate the Safety, Tolerability, and
Efficacy of ALXN2350 Gene Therapy in Adult Participants with Symptomatic BAG3
Mutation-Associated Dilated Cardiomyopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519917-72-00·Authorised, ongoing·TRITON-CM: A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Nucresiran in Patients with Transthyretin-Mediated Amyloidosis with Cardiomyopathy (ATTR amyloidosis with cardiomyopathy)
skipped — LLM skipped (--skip-llm)
- ctis·2025-520550-11-00·Authorised·Swedish Cardiac And Renal Failure study-1 (SCARF-1): An open-label pilot trial to evaluate the feasibility, safety and efficacy of eplerenone in patients with heart failure with reduced ejection fraction and severe chronic kidney disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511084-28-00·Authorised, ongoing·LA-HCM : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients with Abnormal Left Atrial Strain : A Randomized Multicenter Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-519525-38-00·Authorised, ongoing·EASi-HF Reduced – A Phase III double-blind, randomised, parallel-group superiority trial to evaluate efficacy and safety of the combined use of oral vicadrostat (BI 690517) and empagliflozin compared with placebo and empagliflozin in participants with symptomatic chronic heart failure (HF: NYHA II-IV) and left ventricular ejection fraction (LVEF) < 40%
skipped — LLM skipped (--skip-llm)
- ctis·2024-518951-52-00·Revoked·Corticotrophin Releasing Factor 2 Agonist For the Treatment of Worsening Heart Failure (WHF) – The CRAFT-WHF Study
skipped — LLM skipped (--skip-llm)
- ctis·2024-519372-22-00·Authorised, ongoing·A research study to look at the distribution and effects of coramitug on amyloid deposits in heart tissue using PET/CT imaging in people with ATTR amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-520506-35-00·Expired·A Phase 2, Single Arm, Multicenter Study to Evaluate the Pharmacodynamics and Safety of Re-Treatment with ALXN2220 in Patients with Transthyretin Amyloid Cardiomyopathy
skipped — LLM skipped (--skip-llm)
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 Erythrokeratodermia-cardiomyopathy syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
("Erythrokeratodermia-cardiomyopathy syndrome" OR "EKC syndrome" OR "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" OR "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" OR "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis") OR ("DSP syndrome" OR "DSP-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Erythrokeratodermia-cardiomyopathy syndrome" OR "EKC syndrome" OR "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" OR "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" OR "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis"
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T17:05:50.617Z