POREN2
MCID: BRN140
MIFTS: 19

Brain Small Vessel Disease 2 (POREN2)

Categories: 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 58
Porencephaly 2 76 30 13 6 41
Porencephaly 2, Formerly; Poren2, Formerly 58
Porencephaly 2, Formerly 58
Poren2, Formerly 58
Poren2 76
Bsvd2 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:



Summaries for Brain Small Vessel Disease 2

OMIM : 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.

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 spasticity 33 HP:0001257
3 global developmental delay 33 HP:0001263
4 ventriculomegaly 33 HP:0002119
5 intracranial hemorrhage 33 HP:0002170
6 hemiplegia 33 HP:0002301
7 porencephalic cyst 33 HP:0002132

Symptoms via clinical synopsis from OMIM:

58
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 30 COL4A2

Anatomical Context for Brain Small Vessel Disease 2

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

42
Brain

Publications for Brain Small Vessel Disease 2

Articles related to Brain Small Vessel Disease 2:

# Title Authors Year
1
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. ( 22209246 )
2012

Variations for Brain Small Vessel Disease 2

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

76
# Symbol AA change Variation ID SNP ID
1 COL4A2 p.Gly1037Glu VAR_067837 rs387906603
2 COL4A2 p.Gly1152Asp VAR_067838 rs387906602

ClinVar genetic disease variations for Brain Small Vessel Disease 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A2 NM_001846.3(COL4A2): c.3455G> A (p.Gly1152Asp) single nucleotide variant Pathogenic rs387906602 GRCh37 Chromosome 13, 111144417: 111144417
2 COL4A2 NM_001846.3(COL4A2): c.3455G> A (p.Gly1152Asp) single nucleotide variant Pathogenic rs387906602 GRCh38 Chromosome 13, 110492070: 110492070
3 COL4A2 NM_001846.3(COL4A2): c.3110G> A (p.Gly1037Glu) single nucleotide variant Pathogenic rs387906603 GRCh37 Chromosome 13, 111138086: 111138086
4 COL4A2 NM_001846.3(COL4A2): c.3110G> A (p.Gly1037Glu) single nucleotide variant Pathogenic rs387906603 GRCh38 Chromosome 13, 110485739: 110485739
5 COL4A2 NM_001846.3(COL4A2): c.4147G> A (p.Gly1383Arg) single nucleotide variant Likely pathogenic rs797044947 GRCh37 Chromosome 13, 111156202: 111156202
6 COL4A2 NM_001846.3(COL4A2): c.4147G> A (p.Gly1383Arg) single nucleotide variant Likely pathogenic rs797044947 GRCh38 Chromosome 13, 110503855: 110503855
7 COL4A2 NM_001846.3(COL4A2): c.316-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 13, 111077299: 111077299
8 COL4A2 NM_001846.3(COL4A2): c.316-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 13, 110424952: 110424952

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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