ORPHA:404546
DITRA
Also known as: Deficiency of IL-36R antagonist · Deficiency of IL-36Ra
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,132
Trials
1
Interventional, condition-specific
Researchers
972
Distinct authors in sample
Gene link
IL36RN
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.
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:0013626
- OMIM:614204
- UMLS:C0392439
- NCIT:C119057
Additional Mondo synonyms (12)
IL36RN psoriasis · Interleukin 36 receptor antagonist deficiency · PSORP · PSORS14 · acrodermatitis continua of Hallopeau · acrodermatitis continua suppurativa of Hallopeau · deficiency of IL-36R antagonist · deficiency of IL-36Ra · deficiency of the interleukin-36 receptor antagonist · familial generalised pustular psoriasis · psoriasis 14, pustular · psoriasis caused by mutation in IL36RN
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — IL36RN
- LiteraturePresent
3,132 matched papers (2,216 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 trialPresent
1 matched on ClinicalTrials.gov
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 (IL36RN).
GenCC classification: Strong.
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?
3,132
3,132 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=5449) is 41.
3,132 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).
2,216 in the last 10 years · low confidence
Phrase hits: 3,132 · MeSH hits: 0
Who's working on it?
972
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Tsai TF8 papers · 2025
Department of Dermatology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Papers in Europe PMC - 02Wang Y8 papers · 2026
Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Papers in Europe PMC - 03Wang Z8 papers · 2026
Department of Dermatology Beijing Children's Hospital, Capital Medical University National Center for Children's Health Beijing China.
Papers in Europe PMC - 04Xu Z8 papers · 2026
Department of Dermatology Beijing Children's Hospital, Capital Medical University National Center for Children's Health Beijing China.
Papers in Europe PMC - 05Chen Y7 papers · 2026
Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Papers in Europe PMC - 06Zhang Y7 papers · 2026
The First Clinical Medical College, Yunnan University of Chinese Medicine, Kunming, China.
Papers in Europe PMC - 07Li C6 papers · 2026
Department of Dermatology, Tianjin Institute of Integrative Dermatology, Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin, China.
Papers in Europe PMC - 08Li Y6 papers · 2026
Department of Anatomical Pathology, Singapore General Hospital, Singapore.
Papers in Europe PMC - 09Wang J6 papers · 2026
Department of Dermatology, Hangzhou Third People's Hospital, Affiliated Hangzhou Dermatology Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 10Zhang Z6 papers · 2026
Dermatology Hospital of Shandong First Medical University, Jinan, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"DITRA" OR "Deficiency of IL-36R antagonist" OR "Deficiency of the IL-36R antagonist" OR "Deficiency of IL-36Ra" OR "Deficiency of the IL-36Ra" OR "IL36RN psoriasis" OR "Interleukin 36 receptor antagonist deficiency" OR "PSORP" OR "PSORS14" OR "acrodermatitis continua of Hallopeau" OR "acrodermatitis continua of the Hallopeau" OR "acrodermatitis continua suppurativa of Hallopeau" OR "acrodermatitis continua suppurativa of the Hallopeau" OR "deficiency of the interleukin-36 receptor antagonist" OR "deficiency of interleukin-36 receptor antagonist" OR "familial generalised pustular psoriasis" OR "psoriasis 14, pustular" OR "psoriasis caused by mutation in IL36RN"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"DITRA" OR "Deficiency of IL-36R antagonist" OR "Deficiency of the IL-36R antagonist" OR "Deficiency of IL-36Ra" OR "Deficiency of the IL-36Ra" OR "IL36RN psoriasis" OR "Interleukin 36 receptor antagonist deficiency" OR "PSORP" OR "PSORS14" OR "acrodermatitis continua of Hallopeau" OR "acrodermatitis continua of the Hallopeau" OR "acrodermatitis continua suppurativa of Hallopeau" OR "acrodermatitis continua suppurativa of the Hallopeau" OR "deficiency of the interleukin-36 receptor antagonist" OR "deficiency of interleukin-36 receptor antagonist" OR "familial generalised pustular psoriasis" OR "psoriasis 14, pustular" OR "psoriasis caused by mutation in IL36RN" OR "IL36RN"
Recall-expansion terms: IL36RN
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 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
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- "acrodermatitis continua of Hallopeau" also appears on ORPHA:163931
- Publication count (3132) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:36:46.414Z