epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
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.
MONDO:0005087
respiratory system disorder
excluded_subClassOf
MONDO:0017015
primary interstitial lung disease specific to childhood
excluded_subClassOf
MONDO:0019723
obsolete disease of glomerular basement membrane (obsolete MONDO:0019723)
excluded_subClassOf
MONDO:0017612
junctional epidermolysis bullosa
is_a
ILNEB
related
JEB with respiratory and renal involvement
exact
JEB-RR
exact
congenital ILNEB syndrome
exact
congenital NEP syndrome
exact
congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
exact
congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome
exact
congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome
exact
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
related