Klinische FragestellungZerebrale Mikroangiopathie mit Hämorrhagie, Differentialdiagnose

NGS +

Fragile kleine intrazerebrale Gefäße bei verschiedenen Familienmitgliedern, die sich klinisch manifestieren mit einfachen/rezidivierenden hämorrhagischen und/oder ischämischen Schlaganfällen, häufig mit Beteiligung der Augen und der Nieren; diffuse, periventrikuläre Leukoenzephalopathie in Verbindung mit erweiterten perivaskulären Räumen, Lakuneninfarkt und Mikroblutungen

• Allelic: Alzheimer disease 1, familial (APP)
• Allelic: Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
• Allelic: Chilblain lupus (TREX1)
• Allelic: Fetal akinesia, respiratory insuff., microceph., polymicrogyria + dysmorphic face (ATP1A2)
• Allelic: Hearing Impairment [panelapp] (FOXC1)
• Allelic: Hemorrhage, intracerebral, susceptibility to (CCOL4A2)
• Allelic: Iridogoniodysgenesis, type 1, Iris hypoplasia glaucoma (FOXC1)
• Allelic: Lateral meningocele syndrome (NOTCH3)
• Allelic: Macular degeneration, age-related, 7 (HTRA1)
• Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
• Allelic: Myofibromatosis, infantile 2 (NOTCH3)
• Allelic: Progressive external ophthalmoplegia, AD (POLG)
• Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
• Allelic: Stroke [panelapp] (FOXC1)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Alternating hemiplegia of childhood 1 (ATP1A2)
• Arterial calcification, generalized, of infancy, 2 (ABCC6)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• Brain small vessel disease 2 (COL4A2)
• Brain small vessel disease 3 (COLGALT1)
• Brain small vessel disease with Axenfeld-Rieger anomaly (COL4A1)
• Brain small vessel disease with hemorrhage (COL4A1)
• Brain small vessel disease with/without ocular anomalies (COL4A1)
• CARASIL syndrome (HTRA1)
• Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants (APP)
• Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
• Dandy Walker Syndrome [panelapp] (FOXC1)
• Developmental + epileptic encephalopathy 42 (CACNA1A)
• Developmental + epileptic encephalopathy 98 (ATP1A2)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Episodic ataxia, type 2 (CACNA1A)
• Fabry disease (GLA)
• Fabry disease, cardiac variant (GLA)
• Galactosialidosis (CTSA)
• Hemiplegia, infantile, with porencephaly (COL4A1)
• Leukoencephalopathy with Axenfeld-Rieger anomaly COL4A1)
• Migraine, familial basilar (ATP1A2)
• Migraine, familial hemiplegic, 1 (CACNA1A)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Migraine, familial hemiplegic, 2 (ATP1A2)
• Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
• Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
• Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
• Polymicrogyria with/-out vascular-type EDS (COL3A1)
• Porencephaly, type 1 (COL4A1)
• Pseudoxanthoma elasticum (ABCC6)
• Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Retinal arteriolar otrtuosity, infantile hemiparesis, leukencephalopathy, AD (COL4A1)
• Spinocerebellar ataxia 6 (CACNA1A)