BSVD2
MCID: BRN140
MIFTS: 24

Brain Small Vessel Disease 2 (BSVD2)

Categories: Cardiovascular diseases, Eye 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 56 73
Porencephaly 2 73 29 13 6 39
Bsvd2 56 73
Porencephaly 2, Formerly; Poren2, Formerly 56
Porencephaly 2, Formerly 56
Poren2, Formerly 56
Poren2 73

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
variable severity

Inheritance:
autosomal dominant


HPO:

31
brain small vessel disease 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM 56 614483
OMIM Phenotypic Series 56 PS175780
MeSH 43 D001927
MedGen 41 C3280970

Summaries for Brain Small Vessel Disease 2

OMIM : 56 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 eye, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 73 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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 spasticity 31 HP:0001257
3 global developmental delay 31 HP:0001263
4 ventriculomegaly 31 HP:0002119
5 intracranial hemorrhage 31 HP:0002170
6 hemiplegia 31 HP:0002301
7 porencephalic cyst 31 HP:0002132

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
intracranial hemorrhage
polymicrogyria
pachygyria
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:

40
Brain, Eye

Publications for Brain Small Vessel Disease 2

Articles related to Brain Small Vessel Disease 2:

# Title Authors PMID Year
1
Further refinement of COL4A1 and COL4A2 related cortical malformations. 56 6
30315939 2018
2
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. 56 6
22209246 2012
3
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. 56
30413629 2018
4
The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program. 61
31331924 2019
5
[Magnetoencephalographic studies on spike foci using a 37-channel biomagnetometer system]. 61
1762194 1991
6
Congenital hemiparesis: the spectrum of lesions. A clinical and computerized tomographic study of 37 cases. 61
6668195 1983

Variations for Brain Small Vessel Disease 2

ClinVar genetic disease variations for Brain Small Vessel Disease 2:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A2 NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp)SNV Pathogenic 29627 rs387906602 13:111144417-111144417 13:110492070-110492070
2 COL4A2 NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu)SNV Pathogenic 29628 rs387906603 13:111138086-111138086 13:110485739-110485739
3 COL4A2 NM_001846.4(COL4A2):c.316-1G>CSNV Pathogenic 560985 rs1566525717 13:111077299-111077299 13:110424952-110424952
4 COL4A2 NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg)SNV Pathogenic 689504 13:111155819-111155819 13:110503472-110503472
5 COL4A2 NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp)SNV Likely pathogenic 807561 13:111117831-111117831 13:110465484-110465484
6 COL4A2 NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)SNV Likely pathogenic 208773 rs797044947 13:111156202-111156202 13:110503855-110503855
7 COL4A2 NM_001846.4(COL4A2):c.1776+1G>ASNV Uncertain significance 265530 rs886039602 13:111114732-111114732 13:110462385-110462385
8 COL4A2 NM_001846.4(COL4A2):c.1340-1G>CSNV Uncertain significance 632207 rs1566544453 13:111109689-111109689 13:110457342-110457342
9 COL4A2 NM_001846.4(COL4A2):c.1597-1G>ASNV Uncertain significance 632208 rs745376502 13:111114460-111114460 13:110462113-110462113
10 COL4A2 NM_001846.4(COL4A2):c.313G>A (p.Val105Met)SNV Uncertain significance 634465 rs772439696 13:111077213-111077213 13:110424866-110424866
11 COL4A2 NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)SNV Benign/Likely benign 29629 rs117412802 13:111143601-111143601 13:110491254-110491254
12 COL4A2 NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)SNV Benign/Likely benign 29630 rs62621875 13:111143681-111143681 13:110491334-110491334
13 COL4A2 NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr)SNV Benign/Likely benign 29631 rs201105747 13:111164467-111164467 13:110512120-110512120

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

73
# 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
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32 ICD10
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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