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Bilateral striopallidodentate calcinosis

4 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Parkes Weber syndrome

1 OMIM reference -
1 associated gene
14 signs/symptoms

Bilateral striopallidodentate calcinosis

Parkes Weber syndrome

PDGFB	(UniProt - OMIM)		RASA1	(UniProt - OMIM)
PDGFRB	(UniProt - OMIM)
SLC20A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFRB	(0.88)	RASA1

Citations in the biomedical literature:

Bilateral striopallidodentate calcinosis		Parkes Weber syndrome
	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 circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin 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		Parkes Weber syndrome
	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 - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Global upper and lower limbs anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Muscle hypertrophy - Peripheral arteriovenous fistula - Telangiectasiae of the skin - Upper limb asymmetry / hemiatrophy / hemihypertrophy Frequent - Varices / varicous veins / venous insufficiency Occasional - Facial pain / cephalalgia / migraine - Glaucoma - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Vascular anomalies of skin / mucosae