IllnessStroke, differential diagnosis

NGS +

[Sanger]

Stroke is a vascular disease of the brain with the common feature of acute brain tissue damage due to vascular occlusion or cerebral haemorrhage. TIA (transitory ischaemic attack) is a circumscribed neurological dysfunction that is completely reversible within one day. Ischaemic strokes are common (80%), primary brain and subarachnoid haemorrhages are rare (11% and 3%). Cardioembolic and microangiopathic (lacunar) strokes each account for around a quarter of all ischaemias, stenoses of vessels supplying the brain for 10%. 30-35% of strokes are cryptogenic. Stroke is the second most common cause of death in D and all other countries and often leads to disability.

• 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: Angiotensin I-converting enzyme, benign serum increase (ACE)
• 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: Celiac disease, susceptibility to, 3 (CTLA4)
• Allelic: Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
• Allelic: Chilblain lupus (TREX1)
• Allelic: Coronary artery spasm 1, susceptibility to (NOS3)
• Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
• Allelic: Diabetes, type 1, susceptibility to (PTPN22)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Ehlers-Danlos syndrome, vascular type (COL3A1)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: Hashimoto thyroiditis (CTLA4)
• Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 1 (CFH)
• Allelic: Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (CTLA4)
• Allelic: Lateral meningocele syndrome (NOTCH3)
• Allelic: Leukemia, acute myeloid, somatic (JAK2)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• 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: Malaria, resistance to (FCGR2B)
• Allelic: Malaria, severe, susceptibility to (FCGR2A)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Microvascular complications of diabetes 3 (ACE)
• Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
• Allelic: Myelofibrosis, somatic (JAK2)
• Allelic: Myocardial infarction, susceptibility to (ACE)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Neurofibromatosis, type 1 (NF1)
• 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: Pseudomonas aeruginosa, susceptibility to chronic infection, cystic fibrosis (FCGR2A)
• Allelic: Pseudoxanthoma elasticum (ABCC6)
• Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Allelic: Renal tubular dysgenesis (ACE)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
• Allelic: Ring dermoid of cornea (PITX2)
• Allelic: SARS, progression of (ACE)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
• Aicardi-Goutieres syndrome 5 (SAMHD1)
• 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)
• Blood group, ABO system (ABO)
• 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)
• Lupus nephritis, susceptibility to (FCGR2A)
• Marfan syndrome (FBN1)
• Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Moyamoya 6 with achalasia (GUCY1A3)
• Moyamoya disease 2, susceptibility to (RNF213)
• Moyamoya disease 5 (ACTA2)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• 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, hemorrhagic (ACE)
• Stroke, ischemic, susceptibility to (F2)
• Stroke, ischemic, susceptibility to (F5)
• Stroke, susceptibility to (ALOX5AP)
• Systemic lupus erythematosus susceptibility to (PTPN22)
• Systemic lupus erythematosus, susceptibility to (CTLA4)
• Systemic lupus erythematosus, susceptibility to (DNASE1)
• Systemic lupus erythematosus, susceptibility to (FCGR2B)
• 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)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Vasculopathy, retinal, with cerebral leukodystrophy (TREX1)
• Watson syndrome (NF1)