BSVD3
MCID: BRN141
MIFTS: 21

Brain Small Vessel Disease 3 (BSVD3)

Categories: Cardiovascular diseases, Eye 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 56 73 29 6
Bsvd3 56 73

Characteristics:

OMIM:

56
Miscellaneous:
phenotypic variability
two unrelated patients have been reported (last curated march 2019)

Inheritance:
autosomal recessive


HPO:

31
brain small vessel disease 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Brain Small Vessel Disease 3

OMIM : 56 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 eye, and related phenotypes are seizures and cerebral calcification

UniProtKB/Swiss-Prot : 73 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 Col4a1-Related Brain Small-Vessel Disease

Symptoms & Phenotypes for Brain Small Vessel Disease 3

Human phenotypes related to Brain Small Vessel Disease 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 cerebral calcification 31 HP:0002514
3 global developmental delay 31 HP:0001263
4 spastic tetraplegia 31 HP:0002510
5 generalized hypotonia 31 HP:0001290
6 cerebral hemorrhage 31 HP:0001342
7 leukoencephalopathy 31 HP:0002352
8 cerebral atrophy 31 HP:0002059

Symptoms via clinical synopsis from OMIM:

56
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

Anatomical Context for Brain Small Vessel Disease 3

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

40
Brain, Eye

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. 56 6
30412317 2018

Variations for Brain Small Vessel Disease 3

ClinVar genetic disease variations for Brain Small Vessel Disease 3:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COLGALT1 NM_024656.4(COLGALT1):c.452T>G (p.Leu151Arg)SNV Pathogenic 623638 rs1478523191 19:17671237-17671237 19:17560428-17560428
2 COLGALT1 NM_024656.4(COLGALT1):c.1096del (p.Glu366fs)deletion Pathogenic 623639 rs1568481204 19:17688238-17688238 19:17577429-17577429
3 COLGALT1 NM_024656.4(COLGALT1):c.460G>C (p.Ala154Pro)SNV Pathogenic 623640 rs181844791 19:17671245-17671245 19:17560436-17560436
4 COLGALT1 NM_024656.4(COLGALT1):c.1129G>C (p.Gly377Arg)SNV Pathogenic 623641 rs1568481244 19:17688272-17688272 19:17577463-17577463

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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