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Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

MONDO:0013881

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.

Also known as: JEB with respiratory and renal involvement, JEB-RR, congenital ILNEB syndrome, congenital NEP syndrome, 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, ILNEB

8 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Epidermolysis bullosa (21) Human disease (14) Junctional epidermolysis bullosa (6) Hereditary skin disorder (5) Inherited epidermolysis bullosa (5) Vesiculobullous skin disease (3) Disease of genetic or genomic mechanism (2)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2
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