Epidermolysis bullosa dystrophica, autosomal dominant

Preferred Label : Epidermolysis bullosa dystrophica, autosomal dominant;

Symbol : DDEB;

CISMeF acronym : DDEB; EBDCT; EBDD; EBDSC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dystrophic epidermolysis bullosa, autosomal dominant; Epidermolysis bullosa dystrophica, cockayne-touraine type; Epidermolysis bullosa dystrophica, pasini type; Albopapuloid dominant dystrophic epidermolysis bullosa; EBDCT; EBDD;

Included titles and symbols : Epidermolysis bullosa dystrophica with subcorneal cleavage; EBDSC;

Description : Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. All forms are caused by mutation in the COL7A1 gene. Fine et al. (2000) proposed that the Cockayne-Touraine and Pasini subtypes of dystrophic epidermolysis bullosa be combined into 1 category known as 'dominant dystrophic epidermolysis bullosa' (DDEB), since both are caused by mutations in the COL7A1 gene and show overlapping clinical features. Epidermolysis bullosa simplex (see, e.g., 131800) and epidermolysis bullosa junctional (see, e.g., 226700) are clinically and genetically distinct disorders characterized by tissue separation at the levels of the basal keratinocyte layer and lamina lucida, respectively.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0002).;

Prefixed ID : #131750;

Details

Origin ID

131750;

UMLS CUI

C0432322;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant dystrophic epidermolysis bullosa [ICD-11 More detail]
- COL7A1 wt Allele [NCIt concept]
- Cockayne-Touraine disease [MeSH concept]
- Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) [SNOMED CT concept]
- Epidermolysis bullosa dystrophica, Pasini type [MeSH concept]
- autosomal dominant dystrophic epidermolysis bullosa [DO Concept]
- epidermolysis bullosa dystrophica with subcorneal cleavage [MeSH concept]
- epidermolysis bullosa dystrophica with subcorneal cleavage [MeSH Supplementary Concept]
- epidermolysis bullosa dystrophica, pasini type [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Dystrophic epidermolysis bullosa [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant generalized dystrophic epidermolysis bullosa [ORDO Disease]
- Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
DO Cross reference
- autosomal dominant dystrophic epidermolysis bullosa [DO Concept]
Genes related to phenotype
- Collagen, type VII, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Atrophic scars [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Milia [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
Matching ORDO disease(s)
- Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type [ORDO Disease]
- Autosomal dominant dystrophic epidermolysis bullosa, Pasini type [ORDO Disease]
ORDO concept(s)
- Autosomal dominant generalized dystrophic epidermolysis bullosa [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant dystrophic epidermolysis bullosa, Pasini type [ORDO Disease]
- Autosomal dominant generalized dystrophic epidermolysis bullosa [ORDO Disease]
- Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) [SNOMED CT concept]
- Epidermolysis bullosa dystrophica, Pasini type [MeSH concept]
- dominant dystrophic epidermolysis bullosa, albopapular type [SNOMED Notion]
- epidermolysis bullosa dystrophica, pasini type [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- epidermolysis bullosa dystrophica [MeSH Descriptor]

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