ODCs

Cytoscape Web

Click node...

Bilateral striopallidodentate calcinosis

4 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Dysspondyloenchondromatosis

1 associated gene
22 signs/symptoms

Bilateral striopallidodentate calcinosis

Dysspondyloenchondromatosis

PDGFB	(UniProt - OMIM)		COL2A1	(UniProt - OMIM)
PDGFRB	(UniProt - OMIM)
SLC20A2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Bilateral striopallidodentate calcinosis		Dysspondyloenchondromatosis
	Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification		Synonym(s): (no synonyms)

	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): (no data available)

	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: No OMIM references No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Intracranial / cerebral calcifications

Bilateral striopallidodentate calcinosis		Dysspondyloenchondromatosis
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Dilated cerebral ventricles without hydrocephaly - Hepatomegaly / liver enlargement (excluding storage disease) - 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 - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Exostoses - Joint / articular deformation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Scoliosis - Short stature / dwarfism / nanism - Vascular anomalies of skin / mucosae - Vertebral segmentation anomaly / hemivertebrae Frequent - Delayed bone age - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Genu valgum - Osteoarthritis - Platyspondyly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Autosomal dominant inheritance - Bone / osseous neoplasm / tumor / carcinoma / cancer - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Intellectual deficit / mental / psychomotor retardation / learning disability