Brain small vessel disease 3

Preferred Label : Brain small vessel disease 3;

Symbol : BSVD3;

CISMeF acronym : BSVD3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen beta(1-0)galactosyltransferase 1 gene (COLGALT1, 617531.0001);

Prefixed ID : #618360;

Details

Origin ID

618360;

UMLS CUI

C5193053;

Genes related to phenotype
- Collagen beta(1-o)galactosyltransferase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral calcification [HPO term]
- Cerebral hemorrhage [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Leukoencephalopathy [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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