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Bilateral striopallidodentate calcinosis
4 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
Bilateral striopallidodentate calcinosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

PDGFB
(UniProt - OMIM)
 STAT1
(UniProt - OMIM)
PDGFRB
(UniProt - OMIM)
SLC20A2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PDGFRB
(0.66)
STAT1


Citations in the biomedical literature:


Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1



Bilateral striopallidodentate calcinosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Synonym(s):
- BSPDC
- Cerebrovascular ferrocalcinosis
- Idiopathic basal ganglia calcification
Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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



Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

(no data available)