ORPHA:79152
Disseminated superficial actinic porokeratosis
Publications
1,188
Trials
0
Interventional, condition-specific
Researchers
944
Distinct authors in sample
Gene link
SART3
Moderate
Readiness
4/6
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Moderate — SART3
- LiteraturePresent
1,188 matched papers (685 in last 10 years) Source
- Phenotype characterisedPresent
13 HPO annotations (e.g. Cutaneous photosensitivity; Pruritus; Squamous cell carcinoma) 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 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)
13
Associated phenotypes · MONDO:0019212
- Cutaneous photosensitivity
- Pruritus
- Squamous cell carcinoma
- Porokeratosis
Showing 4 of 13 — 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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,188
1,188 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,188 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).
685 in the last 10 years · low confidence
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 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.
low 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.
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.
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 Disseminated superficial actinic porokeratosis — 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.
("Disseminated superficial actinic porokeratosis") OR ("SART3" OR "SART3 syndrome" OR "SART3-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Disseminated superficial actinic porokeratosis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"porokeratosis"
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
- Publication count (1188) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T02:04:28.326Z