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4 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 2
2 associated genes
No signs/symptoms info
Bilateral striopallidodentate calcinosis
High bone mass osteogenesis imperfecta

PDGFB COL1A1
PDGFRB COL1A2
SLC20A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDGFB
PDGFB
(0.81)
(0.68)
COL1A1
COL1A2



Citations in the biomedical literature:


Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2
High bone mass osteogenesis imperfecta
COL1A1 COL1A2



Bilateral striopallidodentate calcinosis
High bone mass osteogenesis imperfecta

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

Synonym(s):
- High bone mass OI

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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



High bone mass osteogenesis imperfecta

(no data available)