Epidermolysis bullosa simplex 5c, with pyloric atresia

Preferred Label : Epidermolysis bullosa simplex 5c, with pyloric atresia;

Symbol : EBS5C;

CISMeF acronym : EBSPA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EBSPA; Epidermolysis bullosa simplex with pyloric atresia;

Description : EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. In reports of 2 consensus meetings for EB, Fine et al. (2000, 2008) considered EBS-PA to be a 'basal' form of simplex EB because the electron microscopy shows that skin cleavage occurs in the lower basal level of the keratinocyte, just above the hemidesmosome. There is often decreased integration of keratin filaments with hemidesmosomes.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the plectin 1 gene (PLEC1, 601282.0006);

Laboratory abnormalities : Increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus;

Prefixed ID : #612138;

Détails

Origin ID

612138;

UMLS CUI

C2677349;

Currated CISMeF NLP mapping
- Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex with pyloric atresia [ICD-11 More detail]
- Epidermolysis bullosa simplex with pyloric atresia [ORDO Disease]
- epidermolysis bullosa simplex with pyloric atresia [MeSH concept]
- epidermolysis bullosa simplex with pyloric atresia [MeSH Supplementary Concept]
- epidermolysis bullosa with pyloric atresia [MeSH Supplementary Concept]
Genes related to phenotype
- Plectin [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Anteverted nares [HPO term]
- Aplasia cutis congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blistering, generalized [HPO term]
- Congenital pyloric atresia [HPO term]
- Deeply set eye [HPO term]
- Fetal onset [HPO term]
- Flexion contracture [HPO term]
- Fragile skin [HPO term]
- Hypoplastic pinna [HPO term]
- Intra-epidermal blistering [HPO term]
- Macrocephaly [HPO term]
- Microtia [HPO term]
- Neonatal death [HPO term]
- Onset in utero [HPO term]
- Polyhydramnios [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Epidermolysis bullosa simplex with pyloric atresia [ORDO Disease]
See also inter- (CISMeF)
- Epidermolysis Bullosa, Junctional, with Pyloric Atresia [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex with pyloric atresia [ORDO Disease]
- epidermolysis bullosa simplex with pyloric atresia [MeSH Supplementary Concept]
- epidermolysis bullosa simplex with pyloric atresia [MeSH concept]

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