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4 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Bilateral striopallidodentate calcinosis
Multiple epiphyseal dysplasia, Beighton type

PDGFB COL2A1
PDGFRB
SLC20A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDGFB
(0.68)
COL2A1



Citations in the biomedical literature:


Bilateral striopallidodentate calcinosis
PDGFB PDGFRB SLC20A2
Multiple epiphyseal dysplasia, Beighton type
COL2A1



Bilateral striopallidodentate calcinosis
Multiple epiphyseal dysplasia, Beighton type

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

Synonym(s):
- Multiple epiphyseal dysplasia - myopia - deafness

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: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Bilateral striopallidodentate calcinosis
Multiple epiphyseal dysplasia, Beighton type

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



Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Conductive deafness / hearing loss
- Epiphyseal anomaly
- Flat face
- Microstomia / little mouth
- Myopia
- Round face
- Short hand / brachydactyly

Frequent
- Cataract / lens opacification