brain small vessel disease 3

Summary
Synonym
  • BSVD3
Definition
A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11.
Super Class
autosomal recessive disease brain small vessel disease
Disease Ontology
DOID:0112315
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79709 COLGALT1 collagen beta(1-O)galactosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
234407 Colgalt1 collagen beta(1-O)galactosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
290637 Colgalt1 collagen beta(1-O)galactosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
319025 CG31915 uncharacterized protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
565862 colgalt1a collagen beta(1-O)galactosyltransferase 1a
567859 colgalt1b collagen beta(1-O)galactosyltransferase 1b
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
495521 colgalt1.S collagen beta(1-O)galactosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
100125229 colgalt1.L collagen beta(1-O)galactosyltransferase 1 L homeolog Xenopus laevis (African clawed frog)
100488616 colgalt1 collagen beta(1-O)galactosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
3565069 D2045.9 Glycosyltransferase 25 family member
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0002510 Spastic tetraplegia
HP:0001250 Seizure
HP:0003593 Infantile onset
HP:0002132 Porencephalic cyst
HP:0000007 Autosomal recessive inheritance
HP:0002514 Cerebral calcification
HP:0002059 Cerebral atrophy
HP:0010864 Intellectual disability, severe
HP:0001252 Hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
79709 COLGALT1 collagen beta(1-O)galactosyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024