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Bilateral striopallidodentate calcinosis
4 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
Hemimegalencephaly
2 associated genes
No signs/symptoms info
Bilateral striopallidodentate calcinosis
Hemimegalencephaly

PDGFB
(UniProt - OMIM)
 AKT3
(UniProt - OMIM)
PDGFRB
(UniProt - OMIM)
 PIK3CA
(UniProt - OMIM)
SLC20A2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PDGFRB
(0.52)
PIK3CA


Citations in the biomedical literature:


Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2
Hemimegalencephaly
AKT3 PIK3CA



Bilateral striopallidodentate calcinosis
Hemimegalencephaly

Synonym(s):
- BSPDC
- Cerebrovascular ferrocalcinosis
- Idiopathic basal ganglia calcification
Synonym(s):
- Unilateral megalencephaly
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
4 OMIM references -
No MeSH references
External references:
No 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



Hemimegalencephaly

(no data available)