ErkrankungSchlaganfall, Differentialdiagnose
Zusammenfassung
Ein panel mit 15 Leitlinien-kuratierten bzw. zusammengenommen 42 kuratierten Genen zur umfassenden Untersuchung der genetisch bedingten Suszeptibilität für Schlaganfall
121,1 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACTA2 | 1134 | AD und/oder Mult | |
APP | 2313 | AD und/oder Mult | |
COL3A1 | 4401 | AD und/oder AR und/oder Mult | |
COL4A1 | 5010 | AD und/oder Mult | |
FBN1 | 8616 | AD und/oder Mult | |
FOXF2 | 1335 | AD und/oder Mult | |
GLA | 1290 | XL and/or Mult | |
HBB | 444 | AD und/oder AR und/oder Mult | |
HDAC9 | 1767 | Mult | |
HTRA1 | 1443 | AD und/oder AR und/oder Mult | |
NOTCH3 | 6966 | AD und/oder Mult | |
PITX2 | 816 | AD und/oder Dig und/oder Sus | |
ZFHX3 | 8370 | SMu | |
ABCC6 | 4512 | AD und/oder AR und/oder Dig und/oder Mult | |
ACVRL1 | 1512 | AD und/oder Mult | |
ALOX5AP | 657 | Mult | |
CCM2 | 1335 | AD | |
CFH | 3696 | AD und/oder AR und/oder Mult | |
COL4A2 | 5139 | AD und/oder Mult | |
CTSA | 1497 | AR und/oder Mult | |
ENG | 1878 | AD und/oder Mult | |
F2 | 1869 | AD und/oder AR und/oder Mult | |
F5 | 6675 | AD und/oder AR und/oder Dig und/oder Mult | |
FOXC1 | 1662 | AD und/oder Dig und/oder SMu und/oder Sus | |
GDF2 | 1290 | AD | |
GUCY1A3 | 2085 | AR | |
JAK2 | 3399 | AD und/oder Mult und/oder SMu | |
KRIT1 | 2211 | AD | |
NOS3 | 3612 | AD und/oder Mult | |
PDCD10 | 639 | AD | |
PDE4D | 2430 | AD und/oder Mult | |
PRKCH | 2052 | Mult | |
PROZ | 1269 | AD und/oder Mult und/oder Sus | |
RASA1 | 3144 | AD | |
RNF213 | 15624 | AD und/oder AR und/oder Gen Fusion | |
SAMHD1 | 1881 | AD und/oder AR und/oder Ass | |
SLC2A10 | 1626 | AR | |
SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
TREX1 | 945 | AD und/oder AR und/oder Ass | |
YY1AP1 | 2823 | AR |
Infos zur Erkrankung
Schlaganfall bezeichnet gefäßbedingte Erkrankungen des Gehirns mit dem gemeinsamen Merkmal der akuten Hirngewebs-Schädigung aufgrund von Gefäßverschlüssen oder Hirnblutungen. TIA (transitorisch ischämische Attacke) ist eine umschriebene neurologische Funktionsstörung, die innerhalb eines Tages vollständig reversibel ist. Ischämische Schlaganfälle sind mit 80% häufig, primäre Hirn- und Subarachnoidal-Blutungen sind selten (11%, 3%). Kardioembolische sowie mikroangiopathische (lakunäre) Schlaganfälle machen je rund ein Viertel aller Ischämien aus, Stenosen hirnversorgender Gefäße 10%. 30-35% der Schlaganfälle sind kryptogen. Schlaganfall ist die zweithäufigste Todesursache in D und vielen anderen Ländern und führt häufig zur Behinderung.
- Aicardi-Goutieres syndrome 5 (SAMHD1)
- Alias: Ischämischer Hirninfarkt
- Allelic: Acrodysostosis 2, with/-out hormone resistance (PDE4D)
- Allelic: Acromicric dysplasia (FBN1)
- Allelic: Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
- Allelic: Alzheimer disease 1, familial (APP)
- Allelic: Alzheimer disease, late-onset, susceptibility to (NOS3)
- Allelic: Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
- Allelic: Anterior segment dysgenesis 4 (PITX2)
- Allelic: Axenfeld-Rieger syndrome, type 1 (PITX2)
- Allelic: Axenfeld-Rieger syndrome, type 3 (FOXC1)
- Allelic: Basal laminar drusen (CFH)
- Allelic: Blood group, ABO system (ABO)
- Allelic: Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
- Allelic: Chilblain lupus (TREX1)
- Allelic: Coronary artery spasm 1, susceptibility to (NOS3)
- Allelic: Ectopia lentis, familial (FBN1)
- Allelic: Ehlers-Danlos syndrome, vascular type (COL3A1)
- Allelic: Geleophysic dysplasia 2 (FBN1)
- Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 1 (CFH)
- Allelic: Lateral meningocele syndrome (NOTCH3)
- Allelic: Leukemia, acute myeloid, somatic (JAK2)
- Allelic: MASS syndrome (FBN1)
- Allelic: Macular degeneration, age-related, 4 (CFH)
- Allelic: Macular degeneration, age-related, 7 (HTRA1)
- Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
- Allelic: Marfan lipodystrophy syndrome (FBN1)
- Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
- Allelic: Myelofibrosis, somatic (JAK2)
- Allelic: Myofibromatosis, infantile 2 (NOTCH3)
- Allelic: Placental abruption (NOS3)
- Allelic: Pregnancy loss, recurrent, susceptibility to, 1 (F5)
- Allelic: Pregnancy loss, recurrent, susceptibility to, 2 (F2)
- Allelic: Prostate cancer, somatic (ZFHX3)
- Allelic: Pseudoxanthoma elasticum (ABCC6)
- Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
- Allelic: Retinal arteries, tortuosity of (COL4A1)
- Allelic: Ring dermoid of cornea (PITX2)
- Allelic: Stiff skin syndrome (FBN1)
- Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
- Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
- Angiopathy, hereditary, with nephropathy, aneurysms, muscle cramps (COL4A1)
- Aortic aneurysm, familial thoracic 6 (ACTA2)
- Arterial calcification, generalized, of infancy, 2 (ABCC6)
- Arterial tortuosity syndrome (SLC2A10)
- Brain small vessel disease 2 (COL4A2)
- Brain small vessel disease with/-out ocular anomalies (COL4A1)
- Budd-Chiari syndrome (F5)
- Budd-Chiari syndrome, somatic (JAK2)
- CARASIL syndrome (HTRA1)
- Capillary malformation-arteriovenous malformation 1 (RASA1)
- Cavernous malformations of CNS + retina (KRIT1)
- Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
- Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
- Cerebral cavernous malformations 3 (PDCD10)
- Cerebral cavernous malformations-1 (KRIT1)
- Cerebral cavernous malformations-2 (CCM2)
- Cerebral infarction, susceptibility to (PRKCH)
- Complement factor H deficiency (CFH)
- Dysprothrombinemia (F2)
- Erythrocytosis, somatic (JAK2)
- Fabry disease (GLA)
- Fabry disease, cardiac variant (GLA)
- Factor V deficiency (F5)
- Galactosialidosis (CTSA)
- Grange [arterial occlusive] syndrome (YY1AP1)
- Hemophilia A (F8)
- Hemorrhage, intracerebral, susceptibility to (COL4A1)
- Hemorrhage, intracerebral, susceptibility to (COL4A2)
- Hyperkeratotic cutaneous capillary-venous malformations ass. with cerebral capill. malform. (KRIT1)
- Hypertension, pregnancy-induced (NOS3)
- Hypertension, susceptibility to (NOS3)
- Hypoprothrombinemia (F2)
- Ischemic stroke, susceptibility to (NOS3)
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
- Marfan syndrome (FBN1)
- Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
- Moyamoya 6 with achalasia (GUCY1A3)
- Moyamoya disease 2, susceptibility to (RNF213)
- Moyamoya disease 5 (ACTA2)
- Polycythemia vera, somatic (JAK2)
- Polymicrogyria with/-out vascular-type EDS (COL3A1)
- Protein Z deficiency (PROZ)
- Sickle cell anemia (HBB)
- Small vessel stroke [panelapp] (FOXF2)
- Stroke, ischemic, susceptibility to (F2)
- Stroke, ischemic, susceptibility to (F5)
- Stroke, susceptibility to (ALOX5AP)
- Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
- Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
- Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
- Thrombocythemia 3 (JAK2)
- Thrombophilia due to activated protein C resistance (F5)
- Thrombophilia due to thrombin defect (F2)
- Thrombophilia, susceptibility to, due to factor V Leiden (F5)
- Vasculopathy, retinal, with cerebral leukodystrophy (TREX1)
- AD
- AD und/oder AR und/oder Ass
- AD und/oder AR und/oder Dig und/oder Mult
- AD und/oder AR und/oder Gen Fusion
- AD und/oder AR und/oder Mult
- AD und/oder Dig und/oder SMu und/oder Sus
- AD und/oder Dig und/oder Sus
- AD und/oder Mult
- AD und/oder Mult und/oder SMu
- AD und/oder Mult und/oder Sus
- AD und/oder SMu und/oder Sus
- AR
- AR und/oder Mult
- Mult
- SMu
- XL and/or Mult
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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