English
ErkrankungArterial-Tortuosity-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Arterial-Tortuosity-Syndrom mit zusammen genommen 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP9230
Anzahl Gene
27
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,7 kb (Core-/Basis-Gene)
76,5 kb (Erweitertes Panel)
76,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| SLC2A10 | 1626 | AR | |
| ACTA2 | 1134 | AD und/oder Mult | |
| ALDH18A1 | 2388 | AD und/oder AR | |
| ATP7A | 4503 | XLR | |
| BGN | 1107 | XL | |
| COL3A1 | 4401 | AD und/oder AR und/oder Mult | |
| EFEMP2 | 1332 | AR | |
| FBLN5 | 1347 | AD und/oder AR | |
| FBN1 | 8616 | AD und/oder Mult | |
| FKBP14 | 636 | AR | |
| FOXE3 | 960 | AD und/oder AR | |
| HCN4 | 3612 | AD | |
| LOX | 1254 | AD | |
| LTBP4 | 4763 | AR | |
| MAT2A | 1188 | AD | |
| MFAP5 | 522 | AD | |
| MYH11 | 5919 | AD | |
| MYLK | 5745 | AD | |
| PLOD1 | 2184 | AR | |
| PRKG1 | 2061 | AD | |
| SMAD2 | 1404 | AD | |
| SMAD3 | 1278 | AD | |
| TGFB2 | 1245 | AD | |
| TGFB3 | 1239 | AD | |
| TGFBR1 | 1512 | AD | |
| TGFBR2 | 1704 | AD | |
| TNXB | 12729 | AD und/oder 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.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Mult
- AD und/oder Mult
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q27.8
Bioinformatik und klinische Interpretation
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