ORPHA:306504
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Also known as: ILNEB syndrome · JEB with interstitial lung disease and nephrotic syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17
33.9th percentile
Trials
0
Interventional, condition-specific
Researchers
196
Distinct authors in sample
Gene link
ITGA3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like , with toe nail and sparse hair.
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:0013881
- OMIM:614748
- UMLS:C4518785
Additional Mondo synonyms (7)
JEB with respiratory and renal involvement · JEB-RR · congenital ILNEB syndrome · congenital NEP syndrome · congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome · congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome · congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — ITGA3
- LiteraturePresent
17 matched papers (16 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?
Yes — we know a specific gene responsible (ITGA3).
GenCC classification: Definitive.
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?
17
17 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=5449) is 41.
17 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).
16 in the last 10 years · high confidence · 33.9th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
196
Distinct author names in 17 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.
- 01Farolfi A2 papers · 2025
Dipartmento di Pediatria, Ospedale Buzzi, Azienda Ospedaliera Istituti Clinici di perfezionamento, Via Castelvetro 32, 20154, Milan, Italy.
Papers in Europe PMC - 02Lin H2 papers · 2024
Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Papers in Europe PMC - 03Peñarrocha Diago M2 papers · 2020
Stomatology Department, Faculty of Medicine and Dentistry, University of Valencia, Spain.
Papers in Europe PMC - 04Zirpoli S2 papers · 2025
SC Radiologia e Neuroradiologia Pediatrica, Ospedale Buzzi, Azienda Ospedaliera Istituti Clinici di perfezionamento, Via Castelvetro 32, 20154, Milan, Italy.
Papers in Europe PMC - 05Adamson MM1 paper · 2025
Department of Physiology, Faculty of Basic Medical Sciences, College of Health Sciences, University of Ilorin, Ilorin, Kwara State, Nigeria.
Papers in Europe PMC - 06Adekunle AT1 paper · 2025
Department of Physiology, Faculty of Basic Medical Sciences, College of Health Sciences, University of Ilorin, Ilorin, Kwara State, Nigeria.
Papers in Europe PMC - 07Adepoju AA1 paper · 2025
Department of Physiology, Faculty of Basic Medical Sciences, College of Health Sciences, University of Ilorin, Ilorin, Kwara State, Nigeria.
Papers in Europe PMC - 08Adewale SA1 paper · 2025
Department of Physiology, Faculty of Basic Medical Sciences, College of Health Sciences, University of Ilorin, Ilorin, Kwara State, Nigeria.
Papers in Europe PMC - 09Ajami N1 paper · 2024
Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Papers in Europe PMC - 10Alagbonsi AI1 paper · 2025
Department of Physiology, Faculty of Basic Medical Sciences, College of Health Sciences, University of Ilorin, Ilorin, Kwara State, Nigeria.
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.
"Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" OR "ILNEB syndrome" OR "JEB with interstitial lung disease and nephrotic syndrome" OR "Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome" OR "JEB with respiratory and renal involvement" OR "JEB-RR" OR "congenital ILNEB syndrome" OR "congenital NEP syndrome" OR "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" OR "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" OR "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" OR "ILNEB syndrome" OR "JEB with interstitial lung disease and nephrotic syndrome" OR "Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome" OR "JEB with respiratory and renal involvement" OR "JEB-RR" OR "congenital ILNEB syndrome" OR "congenital NEP syndrome" OR "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" OR "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" OR "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome" OR "ITGA3"
Recall-expansion terms: ITGA3
Study-type breakdown: 0 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:46:49.837Z