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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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
6 Accredited laboratory test
Examined sequence length
14,8 kb (Core-/Core-canditate-Genes)
25,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
COL4A15010NM_001845.6AD, Mult
GLA1290NM_000169.3XL
HTRA11443NM_002775.5AD, AR
NOTCH36966NM_000435.3AD
CACNA1A6786NM_001127221.2AD
COL3A14401NM_000090.4AD, AR

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