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

Preferred Label : Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome;

Symbol : JEB7;

CISMeF acronym : ILNEB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ILNEB; Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital;

Description : Mutations in the integrin alpha-3 gene are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. Patients exhibit a 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-3 integrin gene (ITGA3, 605025.0001);

Laboratory abnormalities : Hypoalbuminemia; Proteinuria (seen in all patients); Decreased glomerular filtration rate (seen in all patients); Respiratory acidosis;

Prefixed ID : #614748;

Details

Origin ID

614748;

UMLS CUI

C4518785;

Currated CISMeF NLP mapping
- Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder) [SNOMED CT concept]
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome [ORDO Disease]
Genes related to phenotype
- Integrin, alpha-3 [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Abnormal pulmonary interstitial morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Erythema [HPO term]
- Fine hair [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Fragile skin [HPO term]
- Gynecomastia [HPO term]
- Hypertelorism [HPO term]
- Hypoalbuminemia [HPO term]
- Hypotonia [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Nail dystrophy [HPO term]
- Narrow chest [HPO term]
- Narrow mouth [HPO term]
- Neonatal respiratory distress [HPO term]
- Nephrotic syndrome [HPO term]
- Onycholysis [HPO term]
- Prominent forehead [HPO term]
- Prominent nose [HPO term]
- Proteinuria [HPO term]
- Recurrent respiratory infections [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular atrophy [HPO term]
- Respiratory acidosis [HPO term]
- Respiratory distress [HPO term]
- Round face [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
ORDO concept(s)
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder) [SNOMED CT concept]
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients