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

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • ILNEB
  • 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
  • interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
  • junctional epidermolysis bullosa with respiratory and renal involvement
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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