Brain small vessel disease 2

Preferred Label : Brain small vessel disease 2;

Symbol : BSVD2;

CISMeF acronym : POREN2; BSVD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Porencephaly 2; POREN2; Gould syndrome 2;

Description : Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of porencephaly, see POREN1 (175780).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type IV collagen alpha-2 gene (COL4A2, 120090.0001);

Prefixed ID : #614483;

Details

Origin ID

614483;

UMLS CUI

C3280970;

Automatic exact mappings (from CISMeF team)
- COL4A2 wt Allele [NCIt concept]
- Porencephaly [ORDO Disease]
DO Cross reference
- porencephaly [DO Concept]
Genes related to phenotype
- Collagen, type iv, alpha-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Esotropia [HPO term]
- Focal-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hemiplegia [HPO term]
- Incomplete penetrance [HPO term]
- Intracranial hemorrhage [HPO term]
- Polymicrogyria [HPO term]
- Porencephalic cyst [HPO term]
- Schizencephaly [HPO term]
- Spastic tetraplegia [HPO term]
- Subcortical heterotopia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Familial porencephaly [ORDO Disease]
- Porencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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