Deutsch
IllnessEpidermolysis bullosa dystrophica, Differentialdiagnose
Summary
Short information
2 guideline-curated and another curated gene sequence analysis according to the clinical suspicion of Epidermolysis bullosa dystrophica
ID
EP7700
Number of loci
| Loci type | Count |
|---|---|
| Gen | 3 |
Examined sequence length
12,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Informations about the disease
Clinical Comment
Cutaneous + mucosal fragility resulting in blisters + superficial ulcerations, develop below the lamina densa of the cutaneous basement membrane, heal with significant scarring + milia formation; 10 sub-types with the 3 most common being generalized dominant, severe generalized recessive + recessive generalized + others forms are
Synonyms
- Allelic: COPD, rate of decline of lung function in (MMP1)
- Allelic: Epidermolysis bullosa pruriginosa (COL7A1)
- Allelic: Epidermolysis bullosa, pretibial, AR, AD (COL7A1)
- Allelic: Toenail dystrophy, isolated (COL7A1)
- Allelic: Transient bullous of the newborn AR, AD (COL7A1)
- Epidermolysis bullosa dystrophica inversa, AR (COL7A1)
- Epidermolysis bullosa dystrophica, AD, AR (COL7A1)
- Epidermolysis bullosa dystrophica, AR, modifier of (MMP1)
- Epidermolysis bullosa dystrophica, Bart type (COL7A1)
- Lysyl hydroxylase 3 deficiency (PLOD3)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined