Klinische FragestellungEpidermolysis bullosa simplex, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Epidermolysis bullosa simplex mit 11 Leitlinien-kuratierten sowie insgesamt 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
EP0274
Anzahl Gene
12
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
57,9 kb (Core-/Core-canditate-Gene)
66,7 kb (Erweitertes Panel: inkl. additional genes)
66,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
CD151 | 762 | NM_001039490.2 | AR | |
DSP | 8616 | NM_004415.4 | AR | |
DST | 17028 | NM_001723.7 | AR | |
EXPH5 | 5970 | NM_015065.3 | AR | |
JUP | 2238 | NM_002230.4 | AR | |
KLHL24 | 1975 | NM_017644.3 | AD | |
KRT14 | 1419 | NM_000526.5 | AD, AR | |
KRT5 | 1773 | NM_000424.4 | AD, AR | |
PKP1 | 2181 | NM_001005337.3 | AR | |
PLEC | 13725 | NM_000445.5 | AR, AD | |
TGM5 | 2163 | NM_201631.4 | AR | |
COL7A1 | 8835 | NM_000094.4 | AD, AR |
Infos zur Erkrankung
Klinischer Kommentar
Nicht-Dowling-Meara generalisierte Epidermolysis bullosa simplex, früher bekannt als Epidermolysis bullosa simplex - Köbner-Typ, ist ein generalisierter basaler Subtyp der Epidermolysis bullosa simplex mit nicht-herpetiformen Blasen + Erosionen, die insbesondere an Reibungsstellen entstehen
Synonyme
- Allelic: Amelogenesis imperfecta, type IA (LAMB3)
- Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
- Allelic: Blood group, Raph (CD151)
- Allelic: Dermatopathia pigmentosa reticularis (KRT14)
- Allelic: Laryngoonychocutaneous syndrome (LAMA3)
- Allelic: Muscular dystrophy, limb-girdle, AR 17 (PLEC)
- Allelic: Neuropathy, hereditary sensory + autonomic, type VI (DST)
- Allelic: Toenail dystrophy, isolated (COL7A1)
- Allelic: Transient bullous of the newborn (COL7A1)
- Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
- Dilated cardiomyopathy with woolly hair, keratoderma, tooth agenesis (DSP)
- Ectodermal dysplasia/skin fragility syndrome (PKP1)
- Epidermolysis bullosa dystrophica inversa (COL7A1)
- Epidermolysis bullosa dystrophica, AD (COL7A1)
- Epidermolysis bullosa dystrophica, AR (COL7A1)
- Epidermolysis bullosa dystrophica, Bart type (COL7A1)
- Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
- Epidermolysis bullosa pruriginosa (COL7A1)
- Epidermolysis bullosa simplex (EXPH5)
- Epidermolysis bullosa simplex with mottled pigmentation (KRT5)
- Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
- Epidermolysis bullosa simplex with nail dystrophy (PLEC)
- Epidermolysis bullosa simplex with pyloric atresia (PLEC)
- Epidermolysis bullosa simplex, 1, AR (KRT14)
- Epidermolysis bullosa simplex, AR 2 (DST)
- Epidermolysis bullosa simplex, Dowling-Meara type (KRT14, KRT5)
- Epidermolysis bullosa simplex, Koebner type (KRT14, KRT5)
- Epidermolysis bullosa simplex, Ogna type (PLEC)
- Epidermolysis bullosa simplex, Weber-Cockayne type (KRT14, KRT5)
- Epidermolysis bullosa simplex, generalized, with scarring + hair loss (KLHL24)
- Epidermolysis bullosa, generalized atrophic benign (LAMA3)
- Epidermolysis bullosa, junctional, Herlitz type (LAMA3, LAMB3, LAMC2)
- Epidermolysis bullosa, junctional, localisata variant (COL17A1)
- Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1, LAMB3, LAMC2)
- Epidermolysis bullosa, lethal acantholytic (DSP)
- Epidermolysis bullosa, nonspecific, AR (EXPH5)
- Epidermolysis bullosa, pretibial (COL7A1)
- Epithelial recurrent erosion dystrophy (COL17A1)
- Keratosis palmoplantaris striata II (DSP)
- Naegeli-Franceschetti-Jadassohn syndrome AD (KRT14)
- Naxos diesease [Woolly hair, palmoplantar keratoderma, cardiac abnormalities] (JUP)
- Nephropathy with pretibial epidermolysis bullosa + deafness (CD151)
- Peeling skin syndrome 2 (TGM5)
- Skin fragility-woolly hair syndrome (DSP)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q81.0
Bioinformatik und klinische Interpretation
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