Deutsch
IllnessEpidermolysis bullosa simplex with pyloric atresia, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Epidermolysis bullosa with pylorus atresia comprising 3 guideline-curated genes according to the clinical signs
ID
EP0271
Number of genes
3
Accredited laboratory test
Examined sequence length
22,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Basal subtype of epidermolysis bullosa simplex with generalized severe blistering + widespread congenital absence of skin + pyloric atresia
Synonyms
- Carmi Syndrom (ITGA6, ITGB4)
- Epidermolysis bullosa of hands and feet (ITGB4)
- Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
- Epidermolysis bullosa simplex with nail dystrophy (PLEC)
- Epidermolysis bullosa simplex with pyloric atresia (PLEC)
- Epidermolysis bullosa simplex, Ogna type (PLEC)
- Epidermolysis bullosa, junctional, non-Herlitz type (ITGB4)
- Epidermolysis bullosa, junctional, with pyloric atresia (ITGB4)
- Epidermolysis bullosa, junctional, with pyloric stenosis (ITGA6)
- Muscular dystrophy, limb-girdle, autosomal recessive 17 (PLEC)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined