ODCs

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4 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
24 signs/symptoms

Bilateral striopallidodentate calcinosis

Ehlers-Danlos syndrome type 2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFB	(0.68)	COL5A1

Citations in the biomedical literature:

Bilateral striopallidodentate calcinosis		Ehlers-Danlos syndrome type 2
	Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification		Synonym(s): - EDS II

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease - Rare surgical thoracic 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 - 1 MeSH reference: C536195

Bilateral striopallidodentate calcinosis		Ehlers-Danlos syndrome type 2
	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 - Autosomal dominant inheritance - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Skin hypoplasia / aplasia / atrophy Frequent - Aortic dilatation / dilation - Bruisability - Diaphragmatic hernia / defect / agenesis - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Herniae - Inguinal / inguinoscrotal / crural hernia - Pectus carinatum - Pectus excavatum - Thin skin - Umbilical hernia - Varices / varicous veins / venous insufficiency Occasional - Aortic dissection - Bladder / vesical diverticulum - Chronic arterial hypertension - Oral synechiae / abnormal frenulae - Peritonitis / peritoneal abscess - Recurrent urinary infections - Retinal detachment - Skin tumors / lumps / epidermal cysts