ORPHA:79152
Disseminated superficial actinic porokeratosis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
441
78.5th percentile
Trials
0
Interventional, condition-specific
Researchers
944
Distinct authors in sample
Gene link
SART3
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019212
- UMLS:C0265970
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Moderate — SART3
- LiteraturePresent
441 matched papers (197 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 trialPartial
None under the specific name; 1 for broader category porokeratosis
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?
Probably — there is moderate evidence for SART3.
GenCC classification: Moderate.
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?
441
441 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.
441 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).
197 in the last 10 years · high confidence · 78.5th percentile (publications denominator)
Phrase hits: 441 · MeSH hits: 0
Who's working on it?
944
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.
- 01Zhang X6 papers · 2025
Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, Anhui, China Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China Department of Dermatology at No.2 Hospital, Anhui Medical University, Hefei, Anhui, China Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui, China State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology & Key Laboratory of Dermatology, Ministry of Education & Key Laboratory of Dermatology, Hefei, Anhui, China.
Papers in Europe PMC - 02Atzmony L4 papers · 2024
Division of Dermatology, Rabin Medical Center, Petach Tikva, Israel.
Papers in Europe PMC - 03Choate KA4 papers · 2026
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address: Keith.choate@yale.edu.
Papers in Europe PMC - 04Li L4 papers · 2026
Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, Anhui, China Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui, China State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology & Key Laboratory of Dermatology, Ministry of Education & Key Laboratory of Dermatology, Hefei, Anhui, China.
Papers in Europe PMC - 05Li M4 papers · 2025
Department of Dermatology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, P.R. China.
Papers in Europe PMC - 06Navarrete-Dechent C4 papers · 2026
Melanoma and Skin Cancer Unit, Department of Dermatology, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 07Wang J4 papers · 2025
Key Laboratory of Molecular Biophysics of Ministry of Education, Department of Genetics and Developmental Biology, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China.
Papers in Europe PMC - 08Huang C3 papers · 2016
Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan 430022, China.
Papers in Europe PMC - 09
- 10Li Y3 papers · 2020
Department of Dermatology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, P.R. 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). 1 trial are registered for porokeratosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched porokeratosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: porokeratosis
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Disseminated superficial actinic porokeratosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Disseminated superficial actinic porokeratosis" OR "SART3"
Recall-expansion terms: SART3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"porokeratosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T02:04:28.326Z