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Bilateral striopallidodentate calcinosis

4 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Bilateral striopallidodentate calcinosis

Caffey disease

PDGFB	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
PDGFRB	(UniProt - OMIM)
SLC20A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFB	(0.81)	COL1A1

Citations in the biomedical literature:

Bilateral striopallidodentate calcinosis		Caffey disease
	Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification		Synonym(s): - Infantile cortical hyperostosis

	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): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown 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		Caffey disease
	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 - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cortical anomaly / thick bone cortical layer Frequent - Bone tumefaction / swelling - Fever / chilling - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperesthesia / allodynia / hyperalgia Occasional - Autosomal dominant inheritance - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hypergammaglobulinemia - Hyperleukocytosis / leukocytosis - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis