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BSVD2
MCID: BRN140
MIFTS: 21
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Brain Small Vessel Disease 2 (BSVD2)
Categories:
Cardiovascular diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Brain Small Vessel Disease 2:
Characteristics:OMIM:57
Miscellaneous:
incomplete penetrance variable severity two japanese families have been reported (as of february 2012)
Inheritance:
autosomal dominant HPO:32
brain small vessel disease 2:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Neuronal diseases Cardiovascular diseases |
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OMIM
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57
Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).
For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780). (614483)
MalaCards based summary : Brain Small Vessel Disease 2, is also known as porencephaly 2, and has symptoms including seizures, hemiplegia and muscle spasticity. An important gene associated with Brain Small Vessel Disease 2 is COL4A2 (Collagen Type IV Alpha 2 Chain). Affiliated tissues include brain, and related phenotypes are seizures and spasticity UniProtKB/Swiss-Prot : 74 Brain small vessel disease 2: An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures. |
Human phenotypes related to Brain Small Vessel Disease 2:32 (show all 7)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614483UMLS symptoms related to Brain Small Vessel Disease 2:seizures, hemiplegia, muscle spasticity |
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MalaCards organs/tissues related to Brain Small Vessel Disease 2:41
Brain
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Articles related to Brain Small Vessel Disease 2:
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Genes related to Brain Small Vessel Disease 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Brain Small Vessel Disease 2:6
UniProtKB/Swiss-Prot genetic disease variations for Brain Small Vessel Disease 2:74
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Search
GEO
for disease gene expression data for Brain Small Vessel Disease 2.
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