ORPHA:90389
Telangiectasia macularis eruptiva perstans
Publications
209
63.9th percentile
Trials
0
Interventional, condition-specific
Researchers
831
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019576
- UMLS:C0263402
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
209 matched papers (86 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
209
209 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.
209 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).
86 in the last 10 years · high confidence · 63.9th percentile (publications denominator)
Phrase hits: 209 · MeSH hits: 0
Who's working on it?
831
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.
- 01Hermine O6 papers · 2025
Centre de Recherche en Cancérologie de Marseille, Inserm U1068, Marseille, France.
Papers in Europe PMC - 02Errichetti E5 papers · 2023
Institute of Dermatology, "Santa Maria della Misericordia" University Hospital, Udine, Italy.
Papers in Europe PMC - 03Metcalfe DD5 papers · 2016
NIH/NIAID/LAD, Building 10, Room 11C205, 10 Center Drive, MSC 1881, Bethesda, MD 20892-1881, USA. dmetcalfe@niaid.nih.gov
Papers in Europe PMC - 04Brockow K4 papers · 2025
Department of Dermatology and Allergy Biederstein, Technical University Munich, Munich, Germany
Papers in Europe PMC - 05Carter MC4 papers · 2025
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.
Papers in Europe PMC - 06Akin C3 papers · 2016
Division of Rheumatology, Immunology, and Allergy, Harvard Medical School, Brigham and Women's Hospital, Boston, Mass.
Papers in Europe PMC - 07Arock M3 papers · 2025
Molecular Oncology and Pharmacology, LBPA CNRS UMR8113, Ecole Normale Supérieure de Cachan, Cachan, France.
Papers in Europe PMC - 08BARBER HW3 papers · 1949Papers in Europe PMC
- 09Biedermann T3 papers · 2025
Klinik und Poliklinik für Dermatologie und Allergologie, Ludwig-Maximillians-Universität München, Munich, Germany.
Papers in Europe PMC - 10Broesby-Olsen S3 papers · 2025
Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
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.
high 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.
"Telangiectasia macularis eruptiva perstans"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Telangiectasia macularis eruptiva perstans"
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 2026-07-27T03:50:42.737Z