Epidermolysis bullosa, junctional 1b, severe

Preferred Label : Epidermolysis bullosa, junctional 1b, severe;

Symbol : JEB1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa junctionalis, herlitz type; Jeb-herlitz type; Epidermolysis bullosa, junctional, herlitz-pearson type; Herlitz-pearson-type epidermolysis bullosa; Epidermolysis bullosa letalis; Epidermolysis bullosa, junctional, generalized severe; Epidermolysis bullosa, junctional, herlitz type;

Description : Junctional epidermolysis bullosa is an autosomal recessive skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane. Fine et al. (2000, 2008) proposed classification of the different types of JEB into 'Herlitz' and 'non-Herlitz' types based on severity; the Herlitz type is more severe and often results in early death. Fine et al. (2000, 2008) also eliminated the term 'hemidesmosomal,' which had previously been proposed for some forms of JEB (Uitto et al., 1997). Pulkkinen and Uitto (1999) reviewed the pathophysiology and phenotypic and genetic heterogeneity of the various forms of epidermolysis bullosa.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the laminin alpha-3 gene (LAMA3, 600805.0001); Caused by mutation in the laminin beta-3 gene (LAMB3, 150310.0001); Caused by mutation in the laminin gamma-2 gene (LAMC2, 150292.0001);

Prefixed ID : #226700;

Details

Origin ID

226700;

UMLS CUI

C0079683;

Automatic exact mappings (from CISMeF team)
- Congenital junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Epidermolysis bullosa letalis [ICD-10 Sub-category]
- Epidermolysis bullosa letalis [ICD-10 Sub-category (who)]
- Junctional epidermolysis bullosa gravis of Herlitz (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa, generalised severe [ICD-11 More detail]
- Severe generalized junctional epidermolysis bullosa [ORDO Disease]
- epidermolysis bullosa letalis [MeSH concept]
- junctional epidermolysis bullosa Herlitz type [DO Concept]
DO Cross reference
- junctional epidermolysis bullosa Herlitz type [DO Concept]
Genes related to phenotype
- Laminin, beta-3 [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Congenital localized absence of skin [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Enamel hypoplasia [HPO term]
- Failure to thrive [HPO term]
- Milia [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Onset in utero [HPO term]
- Pyloric stenosis [HPO term]
- Subepidermal blistering with cleavage in the lamina lucida [HPO term]
Not associated HPO term(s)
- Syndactyly [HPO term]
ORDO concept(s)
- Severe generalized junctional epidermolysis bullosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa letalis [ICD-10 Sub-category]
- Junctional epidermolysis bullosa gravis of Herlitz (disorder) [SNOMED CT concept]
- Severe generalized junctional epidermolysis bullosa [ORDO Disease]
- epidermolysis bullosa letalis [MeSH concept]
- junctional epidermolysis bullosa Herlitz type [DO Concept]
Validated automatic mappings to NTBT
- epidermolysis bullosa, junctional [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients