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Bilateral striopallidodentate calcinosis

4 OMIM references -
3 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Kniest dysplasia

1 OMIM reference -
1 associated gene
38 signs/symptoms

Bilateral striopallidodentate calcinosis

Kniest dysplasia

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		Kniest dysplasia
	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 - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537207

Bilateral striopallidodentate calcinosis		Kniest dysplasia
	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 - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Joint / articular deformation - Kyphosis - Lordosis - Mesomelic micromelia - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Myopia - Osteoarthritis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Retinopathy - Rhizomelic micromelia - Scoliosis - Short rib cage / thorax - Short stature / dwarfism / nanism - Vitreous anomalies / hyalitis / persistent vitreous vascularisation - Wide rib cage / thorax Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Proptosis / exophthalmos - Retinal detachment - Round face Occasional - Cataract / lens opacification - Glaucoma - Glossoptosis - Lens dislocation / luxation / subluxation / ectopia lentis - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Tracheal atresia / stenosis - Tracheomalacia / tracheobronchomalacia