BSVD2
MCID: BRN140
MIFTS: 26

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
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 related phenotypes are global developmental delay 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 global developmental delay 31 HP:0001263
2 spasticity 31 HP:0001257
3 ventriculomegaly 31 HP:0002119
4 intracranial hemorrhage 31 HP:0002170
5 hemiplegia 31 HP:0002301
6 seizure 31 HP:0001250
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

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. 6 56
30315939 2018
2
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. 6 56
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A2 NM_001846.4(COL4A2):c.316-1G>CSNV Pathogenic 560985 rs1566525717 13:111077299-111077299 13:110424952-110424952
2 COL4A2 NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg)SNV Pathogenic 689504 13:111155819-111155819 13:110503472-110503472
3 COL4A2 NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp)SNV Pathogenic 29627 rs387906602 13:111144417-111144417 13:110492070-110492070
4 COL4A2 NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu)SNV Pathogenic 29628 rs387906603 13:111138086-111138086 13:110485739-110485739
5 COL4A2 NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)SNV Likely pathogenic 208773 rs797044947 13:111156202-111156202 13:110503855-110503855
6 COL4A2 NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp)SNV Likely pathogenic 807561 13:111117831-111117831 13:110465484-110465484
7 COL4A2 NM_001846.4(COL4A2):c.2902+1G>ASNV Likely pathogenic 864858 13:111135007-111135007 13:110482660-110482660
8 COL4A2 NM_001846.4(COL4A2):c.2343C>T (p.Pro781=)SNV Conflicting interpretations of pathogenicity 745618 13:111125415-111125415 13:110473068-110473068
9 COL4A2 NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)SNV Conflicting interpretations of pathogenicity 311195 rs12877501 13:111164386-111164386 13:110512039-110512039
10 COL4A2 NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)SNV Conflicting interpretations of pathogenicity 311138 rs200735885 13:111117923-111117923 13:110465576-110465576
11 COL4A2 NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val)SNV Conflicting interpretations of pathogenicity 392569 rs370679299 13:111141841-111141841 13:110489494-110489494
12 COL4A2 NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg)SNV Conflicting interpretations of pathogenicity 392751 rs201627758 13:111155510-111155510 13:110503163-110503163
13 COL4A2 NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn)SNV Uncertain significance 311132 rs766981913 13:111114693-111114693 13:110462346-110462346
14 COL4A2 NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile)SNV Uncertain significance 311159 rs886049979 13:111142118-111142118 13:110489771-110489771
15 COL4A2 NM_001846.4(COL4A2):c.*242C>TSNV Uncertain significance 311202 rs886049982 13:111164780-111164780 13:110512433-110512433
16 COL4A2 NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn)SNV Uncertain significance 311147 rs372516991 13:111130353-111130353 13:110478006-110478006
17 COL4A2 NM_001846.4(COL4A2):c.*493C>GSNV Uncertain significance 311207 rs770230018 13:111165031-111165031 13:110512684-110512684
18 COL4A2 NM_001846.4(COL4A2):c.-44-5T>CSNV Uncertain significance 311095 rs886049966 13:110960202-110960202 13:110307855-110307855
19 COL4A2 NM_001846.4(COL4A2):c.549+5G>ASNV Uncertain significance 311103 rs886049969 13:111082308-111082308 13:110429961-110429961
20 COL4A2 NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys)SNV Uncertain significance 311181 rs182278784 13:111158920-111158920 13:110506573-110506573
21 COL4A2 NM_001846.4(COL4A2):c.*450G>TSNV Uncertain significance 311206 rs541941155 13:111164988-111164988 13:110512641-110512641
22 COL4A2 NM_001846.4(COL4A2):c.*563A>GSNV Uncertain significance 311210 rs886049983 13:111165101-111165101 13:110512754-110512754
23 COL4A2 NM_001846.4(COL4A2):c.*830T>CSNV Uncertain significance 311217 rs886049984 13:111165368-111165368 13:110513021-110513021
24 COL4A2 NM_001846.4(COL4A2):c.316-5C>GSNV Uncertain significance 311098 rs886049967 13:111077295-111077295 13:110424948-110424948
25 COL4A2 NM_001846.4(COL4A2):c.361-5C>TSNV Uncertain significance 311099 rs886049968 13:111080809-111080809 13:110428462-110428462
26 COL4A2 NM_001846.4(COL4A2):c.1706G>A (p.Gly569Glu)SNV Uncertain significance 311131 rs886049973 13:111114661-111114661 13:110462314-110462314
27 COL4A2 NM_001846.4(COL4A2):c.1868T>A (p.Leu623Gln)SNV Uncertain significance 311136 rs886049975 13:111117843-111117843 13:110465496-110465496
28 COL4A2 NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu)SNV Uncertain significance 311198 rs747313370 13:111164510-111164510 13:110512163-110512163
29 COL4A2 NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=)SNV Uncertain significance 311169 rs886049980 13:111155505-111155505 13:110503158-110503158
30 COL4A2 NM_001846.4(COL4A2):c.1776+1G>ASNV Uncertain significance 265530 rs886039602 13:111114732-111114732 13:110462385-110462385
31 COL4A2 NM_001846.4(COL4A2):c.862-5C>TSNV Uncertain significance 311112 rs555514799 13:111090960-111090960 13:110438613-110438613
32 COL4A2 NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly)SNV Uncertain significance 311116 rs886049971 13:111098210-111098210 13:110445863-110445863
33 COL4A2 NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg)SNV Uncertain significance 311133 rs886049974 13:111114727-111114727 13:110462380-110462380
34 COL4A2 NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala)SNV Uncertain significance 311148 rs780116763 13:111130368-111130368 13:110478021-110478021
35 COL4A2 NM_001846.4(COL4A2):c.3208-14A>GSNV Uncertain significance 311155 rs886049977 13:111141778-111141778 13:110489431-110489431
36 COL4A2 NM_001846.4(COL4A2):c.3286A>G (p.Thr1096Ala)SNV Uncertain significance 311157 rs886049978 13:111142072-111142072 13:110489725-110489725
37 COL4A2 NM_001846.4(COL4A2):c.3455-14G>ASNV Uncertain significance 311162 rs369510198 13:111144403-111144403 13:110492056-110492056
38 COL4A2 NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr)SNV Uncertain significance 311127 rs886049972 13:111111136-111111136 13:110458789-110458789
39 COL4A2 NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)SNV Uncertain significance 828133 13:111155774-111155774 13:110503427-110503427
40 COL4A2 NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg)SNV Uncertain significance 883463 13:111077205-111077205 13:110424858-110424858
41 COL4A2 NM_001846.4(COL4A2):c.450C>T (p.Pro150=)SNV Uncertain significance 881102 13:111080903-111080903 13:110428556-110428556
42 COL4A2 NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp)SNV Uncertain significance 881573 13:111088640-111088640 13:110436293-110436293
43 COL4A2 NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp)SNV Uncertain significance 881574 13:111090350-111090350 13:110438003-110438003
44 COL4A2 NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro)SNV Uncertain significance 883509 13:111102055-111102055 13:110449708-110449708
45 COL4A2 NM_001846.4(COL4A2):c.1113A>G (p.Gln371=)SNV Uncertain significance 883510 13:111102060-111102060 13:110449713-110449713
46 COL4A2 NM_001846.4(COL4A2):c.1340-1G>CSNV Uncertain significance 632207 rs1566544453 13:111109689-111109689 13:110457342-110457342
47 COL4A2 NM_001846.4(COL4A2):c.1597-1G>ASNV Uncertain significance 632208 rs745376502 13:111114460-111114460 13:110462113-110462113
48 COL4A2 NM_001846.4(COL4A2):c.313G>A (p.Val105Met)SNV Uncertain significance 634465 rs772439696 13:111077213-111077213 13:110424866-110424866
49 COL4A2 NM_001846.4(COL4A2):c.-117C>TSNV Uncertain significance 882683 13:110959803-110959803 13:110307456-110307456
50 COL4A2 NM_001846.4(COL4A2):c.-87G>ASNV Uncertain significance 882684 13:110959833-110959833 13:110307486-110307486

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

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