Epidermolysis bullosa simplex 1c, localized

Preferred Label : Epidermolysis bullosa simplex 1c, localized;

Symbol : EBS1C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa simplex 1c, weber-cockayne type; Epidermolysis bullosa of hands and feet; Ebs, acral form;

Description : Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet (Pfendner et al., 2005). The other 2 main types of EBS include the milder generalized Koebner type (131900) and the more severe Dowling-Meara type (131760). All 3 forms can be caused by mutation in the KRT5 or KRT14 genes (summary by Fine et al., 2008).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 5 gene (KRT5, 148040.0003); Caused by mutation in the keratin 14 gene (KRT14, 148066.0005);

Prefixed ID : #131800;

Details

Origin ID

131800;

UMLS CUI

C0080333;

Automatic exact mappings (from CISMeF team)
- epidermolysis bullosa simplex localized type [DO Concept]
Currated CISMeF NLP mapping
- Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex of the hands AND/OR feet (disorder) [Inactive SNOMED CT concept]
- Localized epidermolysis bullosa simplex [ORDO Disease]
- Weber-Cockayne syndrome [MeSH concept]
- epidermolysis bullosa simplex of the hands and feet [SNOMED Notion]
DO Cross reference
- epidermolysis bullosa simplex localized type [DO Concept]
Genes related to phenotype
- Keratin 14, type I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperkeratosis [HPO term]
- Milia [HPO term]
- Palmoplantar blistering [HPO term]
ORDO concept(s)
- Localized epidermolysis bullosa simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex of the hands AND/OR feet (disorder) [Inactive SNOMED CT concept]
- Localized epidermolysis bullosa simplex [ORDO Disease]
- Weber-Cockayne syndrome [MeSH concept]
- epidermolysis bullosa simplex of the hands and feet [SNOMED Notion]
Validated automatic mappings to NTBT
- epidermolysis bullosa simplex [MeSH Descriptor]

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