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4 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Bilateral striopallidodentate calcinosis
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

PDGFB COL4A1
PDGFRB
SLC20A2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
COL4A1



Bilateral striopallidodentate calcinosis
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

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

Synonym(s):
- HANAC syndrome
- Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the eye and adnexa -

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: no data available
Type of inheritance: autosomal dominant

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



Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

(no data available)