Epidermolysis bullosa simplex 5b, with muscular dystrophy

Preferred Label : Epidermolysis bullosa simplex 5b, with muscular dystrophy;

Symbol : EBS5B;

CISMeF acronym : EBSMD; MDEBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa simplex and limb-girdle muscular dystrophy; Md-ebs; MDEBS; Epidermolysis bullosa simplex with muscular dystrophy; EBSMD;

Description : Epidermolysis bullosa simplex with muscular dystrophy is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes (Fine et al., 1989). Fine et al. (1991) reported a revised classification of the subtypes of inherited epidermolysis bullosa. In reports of 2 consensus meetings on EB, Fine et al. (2000, 2008) referred to EB with muscular dystrophy due to PLEC1 mutations as a form of basal simplex EB. Fine et al. (2000, 2008) also eliminated the term 'hemidesmosomal,' which had previously been proposed for this entity (Uitto et al., 1997) because ultrastructural analysis can demonstrate tissue abnormalities of the hemidesmosomes.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the plectin gene (PLEC1, 601282.0001);

Prefixed ID : #226670;

Details

Origin ID

226670;

UMLS CUI

C2931072;

Currated CISMeF NLP mapping
- Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MeSH concept]
- Epidermolysis bullosa simplex with muscular dystrophy [ICD-11 More detail]
- Epidermolysis bullosa simplex with muscular dystrophy [ORDO Disease]
- Epidermolysis bullosa simplex with muscular dystrophy (disorder) [SNOMED CT concept]
- epidermolysa bullosa simplex and limb girdle muscular dystrophy [MeSH Supplementary Concept]
- epidermolysis bullosa simplex with muscular dystrophy [DO Concept]
DO Cross reference
- epidermolysis bullosa simplex with muscular dystrophy [DO Concept]
False automatic mappings
- Myelodysplastic Syndrome with Excess Blasts [NCIt concept]
Genes related to phenotype
- Plectin [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blistering, generalized [HPO term]
- Carious teeth [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Enamel hypoplasia [HPO term]
- Increased connective tissue [HPO term]
- Keratitis [HPO term]
- Milia [HPO term]
- Muscular dystrophy [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Neonatal respiratory distress [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Punctate keratitis [HPO term]
- Scarring alopecia of scalp [HPO term]
- Short stature [HPO term]
- Urethral stricture [HPO term]
ORDO concept(s)
- Epidermolysis bullosa simplex with muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MeSH concept]
- Epidermolysis bullosa simplex with muscular dystrophy [ORDO Disease]
- Epidermolysis bullosa simplex with muscular dystrophy (disorder) [SNOMED CT concept]
- epidermolysa bullosa simplex and limb girdle muscular dystrophy [MeSH Supplementary Concept]
- epidermolysis bullosa simplex with muscular dystrophy [DO Concept]

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