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ErkrankungSchlaganfall, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein panel mit 15 Leitlinien-kuratierten bzw. zusammengenommen 42 kuratierten Genen zur umfassenden Untersuchung der genetisch bedingten Suszeptibilität für Schlaganfall

ID
HP7744
Anzahl Gene
40 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
44,0 kb (Core-/Basis-Gene)
121,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTA21134AD und/oder Mult
APP2313AD und/oder Mult
COL3A14401AD und/oder AR und/oder Mult
COL4A15010AD und/oder Mult
FBN18616AD und/oder Mult
FOXF21335AD und/oder Mult
GLA1290XL and/or Mult
HBB444AD und/oder AR und/oder Mult
HDAC91767Mult
HTRA11443AD und/oder AR und/oder Mult
NOTCH36966AD und/oder Mult
PITX2816AD und/oder Dig und/oder Sus
ZFHX38370SMu
ABCC64512AD und/oder AR und/oder Dig und/oder Mult
ACVRL11512AD und/oder Mult
ALOX5AP657Mult
CCM21335AD
CFH3696AD und/oder AR und/oder Mult
COL4A25139AD und/oder Mult
CTSA1497AR und/oder Mult
ENG1878AD und/oder Mult
F21869AD und/oder AR und/oder Mult
F56675AD und/oder AR und/oder Dig und/oder Mult
FOXC11662AD und/oder Dig und/oder SMu und/oder Sus
GDF21290AD
GUCY1A32085AR
JAK23399AD und/oder Mult und/oder SMu
KRIT12211AD
NOS33612AD und/oder Mult
PDCD10639AD
PDE4D2430AD und/oder Mult
PRKCH2052Mult
PROZ1269AD und/oder Mult und/oder Sus
RASA13144AD
RNF21315624AD und/oder AR und/oder Gen Fusion
SAMHD11881AD und/oder AR und/oder Ass
SLC2A101626AR
SMAD41659AD und/oder SMu und/oder Sus
TREX1945AD und/oder AR und/oder Ass
YY1AP12823AR

Infos zur Erkrankung

Klinischer Kommentar

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.

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • 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
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I63.5

Bioinformatik und klinische Interpretation

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