Preferred Label : Epidermolysis bullosa simplex 1a, generalized severe;
Symbol : EBS1A;
CISMeF acronym : EBSDM;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Epidermolysis bullosa simplex 1a, dowling-meara type; Epidermolysis bullosa herpetiformis, dowling-meara type; EBSDM; Epidermolysis bullosa simplex, dowling-meara type;
Description : Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous
skin disorder characterized by recurrent blistering of the skin following minor physical
trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal
dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with
generalized blistering that often occurs in clusters (herpetiform), is often associated
with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments
in basal epidermal cells. The other 2 main types of EBS include the milder generalized
Koebner type (131900) and the milder and localized Weber-Cockayne type (131800) (Fine
et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene.
See 601001 for a rare autosomal recessive form caused by mutation in the KRT14 gene.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the keratin 5 gene (KRT5, 148040.0001); Caused by mutation in the keratin 14 gene (KRT14, 148066.0002);
Prefixed ID : #131760;
Origin ID : 131760;
UMLS CUI : C0079295;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
