ORPHA:317
Erythrokeratodermia variabilis
Also known as: EKV · Erythrokeratodermia variabilis, Mendes da Costa type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
447
Trials
0
Interventional, condition-specific
Researchers
1,156
Distinct authors in sample
Gene link
GJB3
Definitive
Readiness
2/6
Stages with a signal
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:0017851
- MeSH:C536154
- MeSH:D056266
- UMLS:C0265961
- NCIT:C84696
Additional Mondo synonyms (7)
Darier-Gottron disease · Ichthyosis, Erythrokeratodermia Variabilis · erythrokeratodermia progressiva symmetrica · erythrokeratodermia variabilis · erythrokeratodermia variabilis, Mendes da Costa type · progressive symmetric erythrokeratodermia · progressive symmetric erythrokeratodermia, Gottron type
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.”
2/6 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
Definitive — GJB3
- LiteraturePresent
447 matched papers (206 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (GJB3).
GenCC classification: Definitive.
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?
447
447 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=5449) is 41.
447 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).
206 in the last 10 years · low confidence
Phrase hits: 447 · MeSH hits: 0
Who's working on it?
1,156
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.
- 01Wang H7 papers · 2025
Department of Dermatology & STD, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
Papers in Europe PMC - 02Akiyama M6 papers · 2025
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.
Papers in Europe PMC - 03Choate KA6 papers · 2025
Department of Dermatology, Yale University School of Medicine, New Haven, CT, 06511, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT, 06511, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT, 06511, USA.
Papers in Europe PMC - 04Laird DW6 papers · 2025
Departments of Anatomy and Cell Biology and Physiology and Pharmacology, University of Western Ontario, London, ON, Canada. Electronic address: dale.laird@schulich.uwo.ca.
Papers in Europe PMC - 05Lin Z6 papers · 2025
Department of Dermatology, Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
Papers in Europe PMC - 06Agbaga MP5 papers · 2025
Neuroscience Program, University of Oklahoma Health Sciences Center, 608 Stanton L. Young Blvd, DMEI 428PP, Oklahoma City, OK, 73104, USA. Martin-Paul-Agbaga@ouhsc.edu.
Papers in Europe PMC - 07Liu Y5 papers · 2026
State Key Laboratory of Complex Severe and Rare Diseases, Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China.
Papers in Europe PMC - 08Lucaciu SA5 papers · 2025
Department of Physiology and Pharmacology, The University of Western Ontario, London, ON N6A 5C1, Canada.
Papers in Europe PMC - 09Paller AS5 papers · 2025
Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Papers in Europe PMC - 10Yang Y5 papers · 2025
Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
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 2026-07-26This 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 variabilis" OR "Erythrokeratodermia variabilis, Mendes da Costa type" OR "Darier-Gottron disease" OR "Ichthyosis, Erythrokeratodermia Variabilis" OR "erythrokeratodermia progressiva symmetrica" OR "progressive symmetric erythrokeratodermia" OR "progressive symmetric erythrokeratodermia, Gottron type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Erythrokeratodermia variabilis" OR "Erythrokeratodermia variabilis, Mendes da Costa type" OR "Darier-Gottron disease" OR "Ichthyosis, Erythrokeratodermia Variabilis" OR "erythrokeratodermia progressiva symmetrica" OR "progressive symmetric erythrokeratodermia" OR "progressive symmetric erythrokeratodermia, Gottron type" OR "GJB3"
Recall-expansion terms: GJB3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: EKV
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "Darier-Gottron disease" also appears on ORPHA:316
- "erythrokeratodermia progressiva symmetrica" also appears on ORPHA:316
- "progressive symmetric erythrokeratodermia" also appears on ORPHA:316
- "progressive symmetric erythrokeratodermia, Gottron type" also appears on ORPHA:316
Ingested 2026-07-26T13:22:18.509Z