BSVD2
MCID: BRN140
MIFTS: 21

Brain Small Vessel Disease 2 (BSVD2)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Brain Small Vessel Disease 2

MalaCards integrated aliases for Brain Small Vessel Disease 2:

Name: Brain Small Vessel Disease 2 57 74
Porencephaly 2 74 29 13 6 40
Bsvd2 57 74
Porencephaly 2, Formerly; Poren2, Formerly 57
Porencephaly 2, Formerly 57
Poren2, Formerly 57
Poren2 74

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:



External Ids:

MeSH 44 D001927
MedGen 42 C3280970

Summaries for Brain Small Vessel Disease 2

OMIM : 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.

Related Diseases for Brain Small Vessel Disease 2

Symptoms & Phenotypes for Brain Small Vessel Disease 2

Human phenotypes related to Brain Small Vessel Disease 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 global developmental delay 32 HP:0001263
4 ventriculomegaly 32 HP:0002119
5 intracranial hemorrhage 32 HP:0002170
6 hemiplegia 32 HP:0002301
7 porencephalic cyst 32 HP:0002132

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
intracranial hemorrhage
hemiplegia
porencephaly
more

Clinical features from OMIM:

614483

UMLS symptoms related to Brain Small Vessel Disease 2:


seizures, hemiplegia, muscle spasticity

Drugs & Therapeutics for Brain Small Vessel Disease 2

Search Clinical Trials , NIH Clinical Center for Brain Small Vessel Disease 2

Genetic Tests for Brain Small Vessel Disease 2

Genetic tests related to Brain Small Vessel Disease 2:

# Genetic test Affiliating Genes
1 Porencephaly 2 29 COL4A2

Anatomical Context for Brain Small Vessel Disease 2

MalaCards organs/tissues related to Brain Small Vessel Disease 2:

41
Brain

Publications for Brain Small Vessel Disease 2

Articles related to Brain Small Vessel Disease 2:

# Title Authors PMID Year
1
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. 8 71
22209246 2012
2
The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program. 38
31331924 2019
3
[Magnetoencephalographic studies on spike foci using a 37-channel biomagnetometer system]. 38
1762194 1991
4
Congenital hemiparesis: the spectrum of lesions. A clinical and computerized tomographic study of 37 cases. 38
6668195 1983

Variations for Brain Small Vessel Disease 2

ClinVar genetic disease variations for Brain Small Vessel Disease 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL4A2 NM_001846.4(COL4A2): c.316-1G> C single nucleotide variant Pathogenic 13:111077299-111077299 13:110424952-110424952
2 COL4A2 NM_001846.4(COL4A2): c.3455G> A (p.Gly1152Asp) single nucleotide variant Pathogenic rs387906602 13:111144417-111144417 13:110492070-110492070
3 COL4A2 NM_001846.4(COL4A2): c.3110G> A (p.Gly1037Glu) single nucleotide variant Pathogenic rs387906603 13:111138086-111138086 13:110485739-110485739
4 COL4A2 NM_001846.4(COL4A2): c.4147G> A (p.Gly1383Arg) single nucleotide variant Likely pathogenic rs797044947 13:111156202-111156202 13:110503855-110503855
5 COL4A2 NM_001846.4(COL4A2): c.1340-1G> C single nucleotide variant Uncertain significance 13:111109689-111109689 13:110457342-110457342
6 COL4A2 NM_001846.4(COL4A2): c.1597-1G> A single nucleotide variant Uncertain significance 13:111114460-111114460 13:110462113-110462113
7 COL4A2 NM_001846.4(COL4A2): c.313G> A (p.Val105Met) single nucleotide variant Uncertain significance 13:111077213-111077213 13:110424866-110424866

UniProtKB/Swiss-Prot genetic disease variations for Brain Small Vessel Disease 2:

74
# Symbol AA change Variation ID SNP ID
1 COL4A2 p.Gly1037Glu VAR_067837 rs387906603
2 COL4A2 p.Gly1152Asp VAR_067838 rs387906602

Expression for Brain Small Vessel Disease 2

Search GEO for disease gene expression data for Brain Small Vessel Disease 2.

Pathways for Brain Small Vessel Disease 2

GO Terms for Brain Small Vessel Disease 2

Sources for Brain Small Vessel Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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