disease has basis in dysfunction of ITGA3 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome 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. ILNEB JEB with respiratory and renal involvement JEB-RR MONDO:0013881 OMIM:614748 Orphanet:306504 UMLS:C3553636 congenital ILNEB syndrome congenital NEP syndrome congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital junctional epidermolysis bullosa with respiratory and renal involvement primary interstitial lung disease specific to childhood due to alveolar structure disorder junctional epidermolysis bullosa disease of glomerular basement membrane