ORPHA:294023
Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
Publications
13
28.2th percentile
Trials
0
Interventional, condition-specific
Researchers
158
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
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:0017411
- UMLS:C4751120
Additional Mondo synonyms (1)
inflammatory skin and bowel disease, neonatal
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
13 matched papers (10 in last 10 years) Source
- Phenotype characterisedPresent
45 HPO annotations (e.g. Recurrent bronchiolitis; Failure to thrive; Dehydration) 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; 500 for broader category inflammatory bowel disease
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)
45
Associated phenotypes · MONDO:0017411
- Recurrent bronchiolitis
- Failure to thrive
- Dehydration
- Long eyelashes
- Recurrent pneumonia
Showing 5 of 45 — 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.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
13
13 papers have ever been indexed 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=3967) is 59.
13 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).
10 in the last 10 years · high confidence · 28.2th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
158
Distinct author names in 13 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.
- 01A K V1 paper · 2021
Department of Biochemistry, Dr. Kongu Science and Art College, Erode, Tamil Nadu, 638107, India.
Papers in Europe PMC - 02Abreu M1 paper · 2015
Institute for Theoretical Biology (ITB), Charité-Universitätsmedizin Berlin and Humboldt-Universität zu Berlin, Invalidenstraße 43, 10115, Berlin, Germany; Molekulares Krebsforschungszentrum (MKFZ), Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.
Papers in Europe PMC - 03Aeschlimann F1 paper · 2023
Department of Paediatric Immunology-Hematology and Rheumatology, Necker University Hospital - APHP, Paris, France.
Papers in Europe PMC - 04Al Shakaki A1 paper · 2023
Department of Genetic Medicine, Weill Cornell Medicine - Qatar, Doha, Qatar.
Papers in Europe PMC - 05Al-Ali MT1 paper · 2021
Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.
Papers in Europe PMC - 06Ashrafi N1 paper · 2021
Department of Anthropology, Vinoba Bhave University, Hazaribag, Jharkhand, 825301, India.
Papers in Europe PMC - 07B K B1 paper · 2021
CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.
Papers in Europe PMC - 08B M P1 paper · 2021
TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India.
Papers in Europe PMC - 09Bader-Meunier B1 paper · 2023
Department of Paediatric Immunology-Hematology and Rheumatology, Necker University Hospital - APHP, Paris, France.
Papers in Europe PMC - 10Bajaj A1 paper · 2021
CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.
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). 500 trials are registered for inflammatory bowel disease, 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.
high 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.
500 interventional trials matched inflammatory bowel disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: inflammatory bowel disease
500
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.
Recruiting under the broader category
- NCT06900738·NOT YET RECRUITING·A Study to Evaluate Non-invasive Measurements of the Inflammatory Status in Patients with IBD
Conditions: Inflammatory Bowel Disease (IBD) · Ulcerative Colitis (UC) · Crohn Disease (CD)·Matched via name phrase
- NCT07113522·RECRUITING·A Phase 2 Study to Evaluate Therapies for Inflammatory Bowel Disease
Conditions: Inflammatory Bowel Disease (IBD) · Ulcerative Colitis (UC) · Crohn's Disease·Matched via name phrase
- NCT07089771·NOT YET RECRUITING·Virtual Versus Dye-based Chromoendoscopy in Inflammatory Bowel Disease Surveillance Colonoscopy
Conditions: Inflammatory Bowel Disease (IBD) · Ulcerative Colitis (Disorder) · Crohns Disease · Colorectal Neoplasms·Matched via name phrase
- NCT05579392·RECRUITING·A Randomized Crossover Trial of Bright Light Therapy in Crohn's Disease on Intestinal Barrier Homeostasis
Conditions: Inflammatory Bowel Disease·Matched via name phrase
- NCT06537258·RECRUITING·Heart Rate Variability and Inflammatory Bowel Disease
Conditions: Inflammatory Bowel Diseases·Matched via name phrase
- NCT06338930·NOT YET RECRUITING·Remote Monitoring of Patients With an Inflammatory Bowel Disease Under no or Maintenance Therapy
Conditions: Crohn Disease · Colitis, Ulcerative · Inflammatory Bowel Diseases·Matched via name phrase
- NCT07121920·NOT YET RECRUITING·Ex-vivo Confocal Imaging and Proteomic Profiling to Determine Treatment Response in Children With IBD
Conditions: IBD (Inflammatory Bowel Disease) · IBD · IBD - Inflammatory Bowel Disease·Matched via name phrase
- NCT07533890·RECRUITING·Fecal Microbiome Signature of Multi-Strain Probiotics Supplementation in Children and Adolescents With Inflammatory Bowel Disease
Conditions: Inflamatory Bowel Disease·Matched via name phrase
- NCT07671313·NOT YET RECRUITING·Online Pain Education for Crohn's Disease and Ulcerative Colitis
Conditions: Crohn's Disease · Ulcerative Colitis (UC) · Inflammatory Bowel Disease (Crohn's Disease; Ulcerative Colitis)·Matched via name phrase
- NCT04504136·RECRUITING·Regulation of Mucosal Healing in Inflammatory Bowel Disease
Conditions: Inflammatory Bowel Diseases·Matched via name phrase
- NCT06804733·RECRUITING·Efficacy of Individualized Aerobic Exercise Training in Patients With Inflammatory Bowel Disease
Conditions: Inflammatory Bowel Disease (IBD)·Matched via name phrase
- NCT07716488·RECRUITING·Screening for Disorders of Lipid Metabolism and Familial Hyperlipidemia in Children and Adolescents With Increased Cardiovascular Risk Due to Chronic Diseases Such as Congenital Heart Disease, Chronic Inflammatory Bowel Disease, Celiac Disease and Rheumatic Disorders
Conditions: Lipid Metabolism Disorders · Lipid Metabolism, Inborn Errors · Congenital Heart Disease · Inflammatory Bowel Disease (IBD)·Matched via name phrase
- NCT06971627·RECRUITING·Telehealth Monitoring in Inflammatory Bowel Disease: Effects on Medication Compliance, Self-Efficacy, and Quality of Life
Conditions: Inflammatory Bowel Disease (IBD) · Medication Compliance · Quality of Life · Telehealth Monitoring·Matched via name phrase
- NCT06483373·RECRUITING·A Clinical Study of SPH7854 Granules in Healthy Subjects.
Conditions: Inflammatory Bowel Disease·Matched via name phrase
- NCT07167836·ENROLLING BY INVITATION·Automated Clinical Pathway for Inflammatory Bowel Disease Care
Conditions: Inflammatory Bowel Disease · Inflammatory Bowel Disease (IBD)·Matched via name phrase
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 61 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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).
Uncertain / not reviewed (60)
- isrctn·ISRCTN14734877·No longer recruiting·Do adults born small show specific traits that allow them to save energy and hence have increased risk for obesity, diabetes, and heart disease?
skipped — LLM skipped (--skip-llm)
- ctis·2026-526311-11-00·Authorised·An Open-label Phase 1 Study in Healthy Adult Participants to Investigate the Effect of Itraconazole on the Blood Levels of Engasertib
skipped — LLM skipped (--skip-llm)
- ctis·2025-523837-25-00·Authorised·4TAZPower: A Phase 3b/4, Randomized, Double-Blind, Parallel-Group, Placebo-Controlled, Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Patients with Genetically Confirmed Barth Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524576-28-00·Authorised·Intrathecal Administration of MELPIDA For Hereditary Spastic Paraplegia Type 50 (SPG50): A multicenter Phase 3, Open-Label Trial with Matched Prospective Concurrent Control Arm (CT-MEL-03)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525682-45-00·Authorised·Efficacy of oral bicarbonate versus placebo on the risk of assisted delivery in nulliparous women with prolonged labour (ProLabour): protocol fora randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2026-525747-33-00·Authorised·Progesterone Luteal Support in Unexplained Infertility Management (PLUIM study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514190-21-00·Authorised, ongoing·Long-term Follow-up (LTFU) Study of Participants in any iECURE Protocol Using an Investigational Product
skipped — LLM skipped (--skip-llm)
- ctis·2025-523497-16-00·Authorised·TSRA196-AAT-201: A Phase 1/2, Open-Label, Multi-Center, Dose Escalation, Dose Expansion, and Single Repeat Dose Study of TSRA-196 in Adults With the PiZZ Genotype Who Have Lung and/or Liver Disease Associated with Severe Alpha-1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523109-14-00·Authorised·A prospective, open-label, non-randomized, multicentre trial to assess the safety and PD of Cangrelor as procedural platelet inhibitor in paediatric subjects from birth to <18 years of age undergoing diagnostic and/or therapeutic percutaneous vascular procedures for management of congenital heart disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-522434-32-00·Authorised, recruiting·A MULTICENTER, RANDOMIZED, OPEN-LABEL, PHASE III CLINICAL TRIAL TO EVALUATE THE EFFICACY, SAFETY, PHARMACOKINETICS AND PHARMACODYNAMICS OF NXT007 PROPHYLAXIS VERSUS FACTOR VIII PROPHYLAXIS IN PEOPLE WITH HEMOPHILIA A WITHOUT INHIBITORS
skipped — LLM skipped (--skip-llm)
- ctis·2024-518043-38-00·11·MOOD - MethOxyflurane analgesia in vasoOcclusive crises of sickle cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524423-50-00·Authorised·An open-label, single-arm, phase 1/2 first-in-human study to assess the safety and efficacy of autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 gene (SGX-001) in paediatric and adult patients with chronic granulomatous disease caused by p47phox deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523400-72-00·Authorised·A Phase 2, Randomized, Double-blind, Controlled Study to Evaluate the Safety and Efficacy of VX‑828/Deutivacaftor With and Without Tezacaftor in Subjects Aged 18 Years and Older With Cystic Fibrosis
skipped — LLM skipped (--skip-llm)
- ctis·2026-525770-19-00·Authorised, ongoing·Optimising the protocol of labour induction using misoprostol – randomised open-label clinical trial (OPTIMISO)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524995-53-00·Authorised·Reproductive outcomes with letrozole co-treatment during ovarian stimulation in women with endometriosis undergoing IVF/ICSI: a randomised, multicentre, parallel group pragmatic trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524646-94-00·Authorised·Optimizing Aspirin Use for Preeclampsia Prevention
skipped — LLM skipped (--skip-llm)
- ctis·2025-525073-37-00·Revoked·A study to investigate the safety, tolerability, pharmacokinetics, immunogenicity and pharmacodynamics of a single subcutaneous dose of GSK4771261 in healthy participants aged 25 to 55 years of age inclusive
skipped — LLM skipped (--skip-llm)
- ctis·2025-523811-12-00·Authorised·A Multicenter, Randomized, Operationally Seamless Phase 2/3 Study to Evaluate the Efficacy and Safety of BMN 333 versus Vosoritide in Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-520842-31-00·Authorised·ANTIPROM - Comparison of two prophylactic antibiotic regimens in case of preterm prelabor rupture of membranes before 34 weeks of gestation: a randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523738-21-00·Authorised·Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants with Fragile X Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-523793-16-00·Authorised, recruiting·A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind Study of the Efficacy and Safety of Vamifeport in Adult Subjects with HFE-related Hereditary Hemochromatosis (FERROCLEAR Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523558-14-00·Authorised·A Phase 1 Study of AIR-001 in Adults with AATD.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
- ctis·2025-523157-34-00·Authorised, recruiting·A Phase 3 randomized, double-blind, placebo-controlled, parallel group, multicenter study with open-label extension to evaluate the efficacy and safety of fenfluramine hydrochloride in study participants with Rett syndrome
skipped — LLM skipped (--skip-llm)
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 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome — 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.
"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome" OR "inflammatory skin and bowel disease, neonatal"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome" OR "inflammatory skin and bowel disease, neonatal"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"inflammatory bowel disease"
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 2026-07-27T12:26:24.655Z