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POREN2
MCID: BRN140
MIFTS: 19
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Brain Small Vessel Disease 2 (POREN2)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Brain Small Vessel Disease 2:
Name: Brain Small Vessel Disease 2
58
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable severity incomplete penetrance two japanese families have been reported (as of february 2012) HPO:33
brain small vessel disease 2:
Onset and clinical course variable expressivity incomplete penetrance Inheritance autosomal dominant inheritance Classifications: |
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OMIM
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58
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 : 76 Porencephaly 2: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles. |
Diseases in the Brain Small Vessel Disease 2 family:
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Human phenotypes related to Brain Small Vessel Disease 2:33 (show all 7)
Symptoms via clinical synopsis from OMIM:58Clinical 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 2:42
Brain
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UniProtKB/Swiss-Prot genetic disease variations for Brain Small Vessel Disease 2:76
ClinVar genetic disease variations for Brain Small Vessel Disease 2:6
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Search
GEO
for disease gene expression data for Brain Small Vessel Disease 2.
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