epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Findings
No curated finding names epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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 phenotype, with toe nail dystrophy and sparse hair.
Definition from the Mondo Disease Ontology (MONDO:0013881), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 3 of 3 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 3 of 3 reported patients · Congenital onset
- Nail dystrophyHPOHP:0008404
- 3 of 3 reported patients
- Nephrotic syndromeHPOHP:0000100
- 3 of 3 reported patients · Congenital onset
- OnycholysisHPOHP:0001806
- 1 of 1 reported patient
- Respiratory distress
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITGA3HGNC:6139
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
- Also called
- congenital ILNEB syndromecongenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndromecongenital NEP syndromecongenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndromecongenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndromeJEB with respiratory and renal involvementJEB-RR