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

EP0274

Anzahl Gene

12 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

57,9 kb (Core-/Core-canditate-Gene)
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	602243	NM_001039490.2	AR
DSP	8616	125647	NM_004415.4	AR
DST	17028	113810	NM_001723.7	AR
EXPH5	5970	612878	NM_015065.3	AR
JUP	2238	173325	NM_002230.4	AR
KLHL24	1975	611295	NM_017644.3	AD
KRT14	1419	148066	NM_000526.5	AD, AR
KRT5	1773	148040	NM_000424.4	AD, AR
PKP1	2181	601975	NM_001005337.3	AR
PLEC	13725	601282	NM_000445.5	AR, AD
TGM5	2163	603805	NM_201631.4	AR
COL7A1	8835	120120	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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