Epidermolysis bullosa, junctional 5b, with pyloric atresia

Preferred Label : Epidermolysis bullosa, junctional 5b, with pyloric atresia;

Symbol : JEB5B;

CISMeF acronym : EB-PA-ACC; JEB-PA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aplasia cutis congenita with gastrointestinal atresia; Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita; Carmi syndrome; JEB-PA; Epidermolysis bullosa, junctional, with pyloric atresia; EB-PA-ACC; Epidermolysis bullosa junctionalis with pyloric atresia;

Description : Traditionally, EB-PA has been classified as a form of junctional epidermolysis bullosa. Uitto et al. (1997) and Pulkkinen and Uitto (1998) proposed reclassification of the disorder as a 'hemidesmosomal' variant because ultrastructural findings can indicate cleavage in the hemidesmosomal region of the skin. However, in subsequent reports of consensus conferences, Fine et al. (2000, 2008) eliminated the term 'hemidesmosomal' because it added undue confusion. The disorder is considered to be a form of junctional EB because skin cleavage occurs within the lamina lucida. Hemidesmosome may be abnormal because the integrins span this region. In a study involving 265 cases of junctional or hemidesmosomal EB, Varki et al. (2006) reviewed the clinical and molecular heterogeneity of these subtypes of EB, discussed exceptions to the general rules on genotype-phenotype correlations, and noted unusual phenotypes and genetics observed in patients and families with EB.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the integrin-beta-4 gene (ITGB4, 147557.0001); Caused by mutation in the integrin-alpha-6 gene (ITGA6, 147556.0001);

Laboratory abnormalities : Increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus;

Prefixed ID : #226730;

Details

Origin ID

226730;

UMLS CUI

C5676875;

Automatic exact mappings (from CISMeF team)
- epidermolysis bullosa, junctional [MeSH Descriptor]
Currated CISMeF NLP mapping
- Epidermolysis Bullosa, Junctional, with Pyloric Atresia [NCIt concept]
- Epidermolysis bullosa with pyloric atresia [MeSH concept]
- Junctional epidermolysis bullosa with pyloric atresia [ICD-11 More detail]
- Junctional epidermolysis bullosa with pyloric atresia [ORDO Disease]
- epidermolysis bullosa with pyloric atresia [MeSH Supplementary Concept]
- junctional epidermolysis bullosa with pyloric atresia [DO Concept]
DO Cross reference
- junctional epidermolysis bullosa with pyloric atresia [DO Concept]
Genes related to phenotype
- Integrin, beta-4 [OMIM gene]
HPO term(s)
- Abnormality of the genitourinary system [HPO term]
- Anonychia [HPO term]
- Aplasia cutis congenita [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axillary pterygium [HPO term]
- Blistering, generalized [HPO term]
- Congenital onset [HPO term]
- Congenital pyloric atresia [HPO term]
- Death in infancy [HPO term]
- Ectropion [HPO term]
- Elevated maternal serum alpha-fetoprotein [HPO term]
- Enamel hypoplasia [HPO term]
- Esophageal atresia [HPO term]
- Fragile skin [HPO term]
- Hypoplastic dermoepidermal hemidesmosomes [HPO term]
- Intractable diarrhea [HPO term]
- Milia [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Onset in utero [HPO term]
- Polyhydramnios [HPO term]
- Subepidermal blistering with cleavage in the lamina lucida [HPO term]
ORDO concept(s)
- Junctional epidermolysis bullosa with pyloric atresia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis Bullosa, Junctional, with Pyloric Atresia [NCIt concept]
- Epidermolysis bullosa with pyloric atresia [MeSH concept]
- Junctional epidermolysis bullosa with pyloric atresia [ORDO Disease]
- epidermolysis bullosa with pyloric atresia [MeSH Supplementary Concept]
- junctional epidermolysis bullosa with pyloric atresia [DO Concept]

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