U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

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

Synonyms
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME; Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Junctional epidermolysis bullosa-7 with interstitial lung disease and nephrotic syndrome (JEB7), also known as ILNEB, is an autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease (summary by Has et al., 2012). [from OMIM]

Available tests

47 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD49C, FRP-2, GAP-B3, GAPB3, ILNEB, JEB7, MSK18, VCA-2, VL3A, VLA3a, ITGA3
    Summary: integrin subunit alpha 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.