Details of Disease

General Information of Disease (ID: DIS3CFDL)

• Disease Name: Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
• Synonyms: ILNEB; interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital; junctional epidermolysis bullosa with respiratory and renal involvement; 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; congenital ILNEB syndrome; JEB-RR; JEB with respiratory and renal involvement; congenital NEP syndrome
• 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.
• Disease Hierarchy:
  DISJRXWU: Junctional epidermolysis bullosa
  DIS3CFDL: Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013881
  UMLS CUI: C4518785
  OMIM ID: 614748
  MedGen ID: 1388385
  Orphanet ID: 306504
  SNOMED CT ID: 733453005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITGA3	OTBCH21D	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.