ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
17 signs/symptoms

Papilloma of choroid plexus

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.63)	RUNX2

Citations in the biomedical literature:

Papilloma of choroid plexus		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D020288		External references: 1 OMIM reference - No MeSH references

Papilloma of choroid plexus		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Very frequent - Autosomal recessive inheritance - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hydrocephaly - Structural anomalies of the nervous system Occasional - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Mild visual loss / impaired visual acuity - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Beaked nose - Dental staining anomaly / spotted teeth / erythrodontia - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Short hand / brachydactyly - Short philtrum - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Abnormal vertebral size / shape - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Mutiple fractures / bone fragility