BSVD3
MCID: BRN141
MIFTS: 12

Brain Small Vessel Disease 3 (BSVD3)

Categories: 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 58 6
Bsvd3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618360

Summaries for Brain Small Vessel Disease 3

OMIM : 58 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.

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

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Brain Small Vessel Disease 3

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

42
Brain

Publications for Brain Small Vessel Disease 3

Articles related to Brain Small Vessel Disease 3:

# Title Authors Year
1
Biallelic COLGALT1 variants are associated with cerebral small vessel disease. ( 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 Assembly Location
1 COLGALT1 NM_024656.4(COLGALT1): c.452T> G (p.Leu151Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 17560428: 17560428
2 COLGALT1 NM_024656.4(COLGALT1): c.452T> G (p.Leu151Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 17671237: 17671237
3 COLGALT1 NM_024656.4(COLGALT1): c.1096del (p.Glu366Argfs) deletion Pathogenic GRCh38 Chromosome 19, 17577430: 17577430
4 COLGALT1 NM_024656.4(COLGALT1): c.1096del (p.Glu366Argfs) deletion Pathogenic GRCh37 Chromosome 19, 17688239: 17688239
5 COLGALT1 NM_024656.4(COLGALT1): c.460G> C (p.Ala154Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 17671245: 17671245
6 COLGALT1 NM_024656.4(COLGALT1): c.460G> C (p.Ala154Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 17560436: 17560436
7 COLGALT1 NM_024656.4(COLGALT1): c.1129G> C (p.Gly377Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 17577463: 17577463
8 COLGALT1 NM_024656.4(COLGALT1): c.1129G> C (p.Gly377Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 17688272: 17688272

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
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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