Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
12 signs/symptoms
Familial vascular leukoencephalopathy
Bilateral striopallidodentate calcinosis

COL4A1 PDGFB
PDGFRB
SLC20A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A1
(0.68)
PDGFB



Citations in the biomedical literature:


Familial vascular leukoencephalopathy
COL4A1
Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2



Familial vascular leukoencephalopathy
Bilateral striopallidodentate calcinosis

Synonym(s):
- Brain small vessel disease with hemorrhage
- Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy

Synonym(s):
- BSPDC
- Cerebrovascular ferrocalcinosis
- Idiopathic basal ganglia calcification

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C531642
External references:
4 OMIM references -
No MeSH references

Bilateral striopallidodentate calcinosis

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Autosomal recessive inheritance
- Dilated cerebral ventricles without hydrocephaly
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intracranial / cerebral calcifications
- Intrauterine growth retardation
- Microcephaly
- Purpura / petichiae
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thrombocytopenia / thrombopenia

Frequent
- Corneal clouding / opacity / vascularisation
- Structural anomalies of the liver and the biliary tract



Familial vascular leukoencephalopathy

(no data available)