ODCs

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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

Ehlers-Danlos syndrome type 7B


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFB	(0.68)	COL1A2

Citations in the biomedical literature:

Bilateral striopallidodentate calcinosis		Ehlers-Danlos syndrome type 7B
	Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification		Synonym(s): - EDS VIIB

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare systemic or rheumatologic 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: - Average age onset: neonatal/infancy 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		Ehlers-Danlos syndrome type 7B
	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 - Abnormal scarring / cheloids / hypertrophic scars - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Muscle weakness / flaccidity - Short stature / dwarfism / nanism Frequent - Anomalies of skin, subcutaneous tissue and mucosae - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Herniae - Rippled skin Occasional - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets