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Junctional epidermolysis bullosa with respiratory and renal involvement

Disease definition

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is 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.

ORPHA:306504

Classification level: Disorder
  • Synonym(s):
    • Congenital ILNEB syndrome
    • Congenital NEP syndrome
    • Congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
    • Congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome
    • Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
    • JEB with respiratory and renal involvement
    • JEB-RR
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 614748
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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