Epidermolysis bullosa, junctional 1a, intermediate

Preferred Label : Epidermolysis bullosa, junctional 1a, intermediate;

Symbol : JEB1A;

CISMeF acronym : GABEB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa junctionalis, non-herlitz type; Epidermolysis bullosa junctionalis, progressive; Epidermolysis bullosa junctionalis, severe nonlethal; Epidermolysis bullosa junctionalis, disentis type; Epidermolysis bullosa, junctional 1a, generalized intermediate; JEB-I; Epidermolysis bullosa, junctional 1a, non-herlitz type; Junctional epidermolysis bullosa inversa;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen XVII, alpha-1 polypeptide gene (COL17A2, 113811.0001); Caused by mutation in the alpha-3 laminin gene (LAMA3, 600805.0003); Caused by mutation in the gamma-2 laminin gene (LAMC2, 150292.0006); Caused by mutation in the beta-3 laminin gene (LAMB3, 150130.001);

Prefixed ID : #226650;

Details

Origin ID

226650;

UMLS CUI

C0268374;

Automatic exact mappings (from CISMeF team)
- Adult junctional epidermolysis bullosa (disorder) [Inactive SNOMED CT concept]
- Junctional epidermolysis bullosa inversa [ORDO Disease]
- Junctional epidermolysis bullosa inversa [ICD-11 More detail]
- Localized junctional epidermolysis bullosa [ORDO Disease]
- epidermolysis bullosa inversa dystrophica [MeSH Supplementary Concept]
- epidermolysis bullosa progressiva [MeSH concept]
- epidermolysis bullosa, junctional [MeSH Descriptor]
- epidermolysis bullosa, junctional [MeSH concept]
- epidermolysis bullosa, junctional, localisata variant [MeSH concept]
Currated CISMeF NLP mapping
- Intermediate generalized junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa non-Herlitz type (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa, generalised intermediate type [ICD-11 More detail]
- Junctional epidermolysis bullosa, non-Herlitz type [ORDO Disease]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH concept]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH Supplementary Concept]
- junctional epidermolysis bullosa non-Herlitz type [DO Concept]
DO Cross reference
- junctional epidermolysis bullosa non-Herlitz type [DO Concept]
Genes related to phenotype
- Laminin, beta-3 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Carious teeth [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Fragile nails [HPO term]
- Heterogeneous [HPO term]
- Hypodontia [HPO term]
- Mild finger contractures [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Oral mucosal blisters [HPO term]
- Palmar hyperhidrosis [HPO term]
- Plantar hyperkeratosis [HPO term]
ORDO concept(s)
- Intermediate generalized junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa inversa [ORDO Disease]
- Junctional epidermolysis bullosa, non-Herlitz type [ORDO Disease]
- Localized junctional epidermolysis bullosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult junctional epidermolysis bullosa (disorder) [Inactive SNOMED CT concept]
- Intermediate generalized junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa non-Herlitz type (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa, generalised intermediate type [ICD-11 More detail]
- Junctional epidermolysis bullosa, non-Herlitz type [ORDO Disease]
- adult junctional epidermolysis bullosa [SNOMED Notion]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH Supplementary Concept]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH concept]
- junctional epidermolysis bullosa non-Herlitz type [DO Concept]

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