BSVD3
MCID: BRN141
MIFTS: 19

Brain Small Vessel Disease 3 (BSVD3)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Brain Small Vessel Disease 3

MalaCards integrated aliases for Brain Small Vessel Disease 3:

Name: Brain Small Vessel Disease 3 57 74 29 6
Bsvd3 57 74

Characteristics:

OMIM:

57
Miscellaneous:
phenotypic variability
two unrelated patients have been reported (last curated march 2019)

Inheritance:
autosomal recessive


HPO:

32
brain small vessel disease 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D001927
MedGen 42 CN258256

Summaries for Brain Small Vessel Disease 3

OMIM : 57 Brain small vessel disease-3 (BSVD3) is an autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration (summary by Miyatake et al., 2018). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780). (618360)

MalaCards based summary : Brain Small Vessel Disease 3, is also known as bsvd3. An important gene associated with Brain Small Vessel Disease 3 is COLGALT1 (Collagen Beta(1-O)Galactosyltransferase 1). Affiliated tissues include brain, and related phenotypes are seizures and cerebral calcification

UniProtKB/Swiss-Prot : 74 Brain small vessel disease 3: An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.

Related Diseases for Brain Small Vessel Disease 3

Diseases in the Brain Small Vessel Disease 2 family:

Brain Small Vessel Disease 3

Symptoms & Phenotypes for Brain Small Vessel Disease 3

Human phenotypes related to Brain Small Vessel Disease 3:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 cerebral calcification 32 HP:0002514
3 global developmental delay 32 HP:0001263
4 spastic tetraplegia 32 HP:0002510
5 generalized hypotonia 32 HP:0001290
6 cerebral hemorrhage 32 HP:0001342
7 leukoencephalopathy 32 HP:0002352
8 cerebral atrophy 32 HP:0002059

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
cerebral hemorrhage
cerebral small vessel disease and fragility

Muscle Soft Tissue:
hypotonia (patient a)

Neurologic Central Nervous System:
leukoencephalopathy
intracranial calcifications
seizures (patient a)
spastic quadriplegia (patient a)
cerebral atrophy (patient a)
more

Clinical features from OMIM:

618360

Drugs & Therapeutics for Brain Small Vessel Disease 3

Search Clinical Trials , NIH Clinical Center for Brain Small Vessel Disease 3

Genetic Tests for Brain Small Vessel Disease 3

Genetic tests related to Brain Small Vessel Disease 3:

# Genetic test Affiliating Genes
1 Brain Small Vessel Disease 3 29 COLGALT1

Anatomical Context for Brain Small Vessel Disease 3

MalaCards organs/tissues related to Brain Small Vessel Disease 3:

41
Brain

Publications for Brain Small Vessel Disease 3

Articles related to Brain Small Vessel Disease 3:

# Title Authors PMID Year
1
Biallelic COLGALT1 variants are associated with cerebral small vessel disease. 8 71
30412317 2018

Variations for Brain Small Vessel Disease 3

ClinVar genetic disease variations for Brain Small Vessel Disease 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COLGALT1 NM_024656.4(COLGALT1): c.452T> G (p.Leu151Arg) single nucleotide variant Pathogenic 19:17671237-17671237 19:17560428-17560428
2 COLGALT1 NM_024656.4(COLGALT1): c.1096del (p.Glu366fs) deletion Pathogenic 19:17688239-17688239 19:17577430-17577430
3 COLGALT1 NM_024656.4(COLGALT1): c.460G> C (p.Ala154Pro) single nucleotide variant Pathogenic 19:17671245-17671245 19:17560436-17560436
4 COLGALT1 NM_024656.4(COLGALT1): c.1129G> C (p.Gly377Arg) single nucleotide variant Pathogenic 19:17688272-17688272 19:17577463-17577463

UniProtKB/Swiss-Prot genetic disease variations for Brain Small Vessel Disease 3:

74
# Symbol AA change Variation ID SNP ID
1 COLGALT1 p.Leu151Arg VAR_081752 rs147852319
2 COLGALT1 p.Ala154Pro VAR_081753 rs181844791
3 COLGALT1 p.Gly377Arg VAR_081754

Expression for Brain Small Vessel Disease 3

Search GEO for disease gene expression data for Brain Small Vessel Disease 3.

Pathways for Brain Small Vessel Disease 3

GO Terms for Brain Small Vessel Disease 3

Sources for Brain Small Vessel Disease 3

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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