Klinische FragestellungHypohydrotische ektodermale Dysplasie; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Ektodermale Dysplasie, hypohydrotische mit 1 Leitlinien-kuratierten Gen, 6 weiteren "core candidate"-Genen sowie insgesamt 14 kuratierten Genen gemäß klinischer Verdachtsdiagnose

EP0261

Anzahl Gene

7 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

7,4 kb (Core-/Core-canditate-Gene)
8,1 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
EDA	1176	300451	NM_001399.5	XLR
EDAR	1347	604095	NM_022336.4	AD, AR
EDARADD	648	606603	NM_145861.4	AD, AR
NFKBIA	954	164008	NM_020529.3	AD
TSPEAR	2010	612920	NM_144991.3	AR
WNT10A	1254	606268	NM_025216.3	AR
GJB2	681	121011	NM_004004.6	AD

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_EP0261

Synonyme

Alias: Hypo-/anhidrotic ectodermal dysplasia: hypotrichosis, an-/hypodontia, an-/hypohidrosis
Alias: XLR hypohidrotic ectodermal dysplasia [Christ-Siemens-Touraine syndrome] (EDA)
Allelic: Amelogenesis imperfecta, type IV (DLX3)
Allelic: Bart-Pumphrey syndrome (GJB2)
Allelic: Deafness, AD 1B (GJB6)
Allelic: Deafness, AD 3A (GJB2)
Allelic: Deafness, AD 3B (GJB6)
Allelic: Deafness, AR 1A (GJB2)
Allelic: Deafness, AR 98 (TSPEAR)
Allelic: Deafness, digenic GJB2/GJB6 (GJB6)
Allelic: Hypotrichosis 3 (KRT74)
Allelic: Orofacial cleft 5 (MSX1)
Allelic: Tooth agenesis, selective, 1, +/- orofacial cleft (MSX1)
Allelic: Woolly hair, AD (KRT74)
Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
Ectodermal dysplasia 1, hypohidrotic, XLR (EDA)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, AR (EDAR)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, AD (EDARADD)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, AR (EDARADD)
Ectodermal dysplasia 14, hair/tooth type with/-out hypohidrosis
Ectodermal dysplasia 2, Clouston type (GJB6)
Ectodermal dysplasia 3, Witkop type (MSX1)
Ectodermal dysplasia 4, hair/nail type (KRT85)
Ectodermal dysplasia 7, hair/nail type (KRT74)
Ectodermal dysplasia 9, hair/nail type (HOXC13)
Ectodermal dysplasia and immunodeficiency 2 (NFKBIA)
Ectodermal dysplasia, hypohydrotic, with immunodeficiency 2 (NFKBIA)
Hystrix-like ichthyosis with deafness (GJB2)
Immunodeficiency 33 (IKBKG)
Incontinentia pigmenti (IKBKG)
Keratitis-ichthyosis-deafness syndrome (GJB2)
Keratoderma, palmoplantar, with deafness (GJB2)
Odontoonychodermal dysplasia (WNT10A)
Schopf-Schulz-Passarge syndrome (WNT10A)
Tooth agenesis, selective, 4 (WNT10A)
Tooth agenesis, selective, XL 1 (EDA)
Trichodontoosseous syndrome (DLX3)
Vohwinkel syndrome (GJB2)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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