Klinische FragestellungArterial-Tortuosity-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Arterial-Tortuosity-Syndrom mit 1 "core"-Gen sowie zusammen genommen 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose

AP9230

Anzahl Loci

Locus-Typ	Anzahl
Gen	27

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

1,7 kb (Core-/Core-canditate-Gene)
76,5 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
SLC2A10	1626	606145	NM_030777.4	AR
ACTA2	1134	102620	NM_001613.4	AD
ALDH18A1	2388	138250	NM_002860.4	AD, AR
ATP7A	4503	300011	NM_000052.7	XLR
BGN	1107	301870	NM_001711.6	XL
COL3A1	4401	120180	NM_000090.4	AD
EFEMP2	1332	604633	NM_016938.5	AR
FBLN5	1347	604580	NM_006329.4	AD
FBN1	8616	134797	NM_000138.5	AD
FKBP14	636	614505	NM_017946.4	AR
FOXE3	960	601094	NM_012186.3	AD
HCN4	3612	605206	NM_005477.3	AD
LOX	1254	153455	NM_002317.7	AD
LTBP4	4763	604710	NM_003573.2	AR
MAT2A	1188	601468	NM_005911.6	AD
MFAP5	522	601103	NM_003480.4	AD
MYH11	5919	160745	NM_002474.3	AD
MYLK	5745	600922	NM_053025.4	AD
PLOD1	2184	153454	NM_000302.4	AR
PRKG1	2061	176894	NM_006258.4	AD
SMAD2	1404	601366	NM_005901.6	AD
SMAD3	1278	603109	NM_005902.4	AD
TGFB2	1245	190220	NM_003238.6	AD
TGFB3	1239	190230	NM_003239.5	AD
TGFBR1	1512	190181	NM_004612.4	AD
TGFBR2	1704	190182	NM_003242.6	AD
TNXB	12729	600985	NM_019105.8	AR

Infos zur Erkrankung

Synonyme

Aortic aneurysm, familial thoracic 10 (LOX)
Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
Aortic aneurysm, familial thoracic 4 (MYH11)
Aortic aneurysm, familial thoracic 6 (ACTA)
Aortic aneurysm, familial thoracic 7 (MYLK)
Aortic aneurysm, familial thoracic 8 (PRKG1)
Aortic aneurysm, familial thoracic 9 (MFAP5)
Arterial tortuosity syndrome (SLC2A1)
Cutis laxa, AD 2 (FBLN5)
Cutis laxa, AD 3 (ALDH18A1)
Cutis laxa, AR, type IA (FBLN5)
Cutis laxa, AR, type IB (EFEMP2)
Cutis laxa, AR, type IC (LTBP4)
Cutis laxa, AR, type IIIA (ALDH18A1)
Ehlers-Danlos syndrome, classic-like, 1 (TNXB)
Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
Ehlers-Danlos syndrome, kyphoskoliotic (FKBP1A)
Ehlers-Danlos syndrome, vascular type (COL3A1)
Heritable thoracic aortic disease (HCN4, MAT2A)
Loeys-Dietz syndrome 1 (TGFBR1)
Loeys-Dietz syndrome 2 (TGFBR2)
Loeys-Dietz syndrome 3 (SMAD3)
Loeys-Dietz syndrome 4 (TGFB2)
Loeys-Dietz syndrome 5 (TGFB3)
Loeys-Dietz syndrome [MONDO] (SMAD2)
MASS syndrome (FBN1)
Marfan syndrome (FBN1)
Meester-Loeys syndrome (BGN)
Moyamoya disease 5 (ACTA2)
Occipital horn syndrome (ATP7A)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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