Deutsch
IllnessCerebral microangiopathy with hemorrhagia, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel containing 8 guideline-curated genes and altogether 15 curated genes according to the clinical suspicion Cerebral microangiopathy with hemorrhagia
ID
CP7748
Number of genes
7
Accredited laboratory test
Examined sequence length
18,5 kb (Core-/Core-canditate-Genes)
29,7 kb (Extended panel: incl. additional genes)
29,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Fragile small-vessel intracerebral vasculature in various members of a family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke, frequently, ocular and renal involvement; diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- Mult
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined