Epidermolysis bullosa dystrophica, autosomal recessive

Preferred Label : Epidermolysis bullosa dystrophica, autosomal recessive;

Symbol : RDEB;

CISMeF acronym : EBR1; RDEB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dystrophic epidermolysis bullosa, autosomal recessive; Epidermolysis bullosa dystrophica, hallopeau-siemens type; Epidermolysis bullosa dystrophica, generalized severe, autosomal recessive; EBR1;

Included titles and symbols : Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant; Epidermolysis bullosa dystrophica inversa, autosomal recessive;

Description : Autosomal recessive dystrophic epidermolysis bullosa is a severe skin disorder beginning at birth and characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane. This results in mutilating scarring and contractures of the hands, feet, and joints. Patients also developed strictures of the gastrointestinal tract from mucosal involvement, which can lead to poor nutrition. Affected individuals have an increased risk of developing aggressive squamous cell carcinoma (Christiano et al., 1996; Varki et al., 2007). Allelic disorders include autosomal dominant DEB (DDEB; 131750), in which the phenotype is less severe, and nonsyndromic congenital nail disorder-8 (NDNC8; 607523), which has been found to segregate as an autosomal dominant trait in heterozygous carriers in some families with recessive DEB.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0001);

Neoplasia : Squamous cell carcinoma;

Prefixed ID : #226600;

Details

Origin ID

226600;

UMLS CUI

C0079474;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive dystrophic epidermolysis bullosa [ICD-11 More detail]
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form [ORDO Disease]
- COL7A1 wt Allele [NCIt concept]
- Hallopeau-Siemens disease [MeSH concept]
- Recessive dystrophic epidermolysis bullosa inversa [ORDO Disease]
- epidermolysis bullosa dystrophica inversa, autosomal recessive [MeSH concept]
- epidermolysis bullosa dystrophica inversa, autosomal recessive [MeSH Supplementary Concept]
- epidermolysis bullosa dystrophica, autosomal recessive, localisata variant [MeSH concept]
- epidermolysis bullosa dystrophica, autosomal recessive, localisata variant [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Dystrophic epidermolysis bullosa [ORDO Disease]
Currated CISMeF NLP mapping
- Epidermolysis Bullosa Dystrophica, Autosomal Recessive [NCIt concept]
DO Cross reference
- recessive 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]
- Abnormal esophagus morphology [HPO term]
- Alopecia [HPO term]
- Anemia [HPO term]
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Congenital onset [HPO term]
- Conjunctivitis [HPO term]
- Constipation [HPO term]
- Corneal scarring [HPO term]
- Dysphagia [HPO term]
- Enamel hypoplasia [HPO term]
- Esophageal stricture [HPO term]
- Flexion contracture [HPO term]
- Fragile skin [HPO term]
- Growth delay [HPO term]
- Malnutrition [HPO term]
- Milia [HPO term]
- Mitten deformity [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Narrow mouth [HPO term]
- Spontaneous esophageal perforation [HPO term]
- Squamous cell carcinoma [HPO term]
ORDO concept(s)
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form [ORDO Disease]
- Recessive dystrophic epidermolysis bullosa inversa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form [ORDO Disease]
- Epidermolysis Bullosa Dystrophica, Autosomal Recessive [NCIt concept]
- Hallopeau-Siemens disease [MeSH concept]
- Recessive dystrophic epidermolysis bullosa [MedDRA LLT]
- Recessive dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- recessive dystrophic epidermolysis bullosa [SNOMED Notion]
- recessive dystrophic epidermolysis bullosa [DO Concept]
Validated automatic mappings to NTBT
- epidermolysis bullosa dystrophica [MeSH Descriptor]

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