ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
20 signs/symptoms

Papilloma of choroid plexus

Schimke immuno-osseous dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.63)	SMARCAL1

Citations in the biomedical literature:

Papilloma of choroid plexus		Schimke immuno-osseous dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Schimke syndrome - Spondyloepiphyseal dysplasia - nephrotic syndrome

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

	Classification (ICD10): - Neoplasms -		Classification (ICD10): (no data available)

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

	External references: 1 OMIM reference - 1 MeSH reference: D020288		External references: 1 OMIM reference - 1 MeSH reference: C536629


COMMON SIGNS	- Autosomal recessive inheritance

Papilloma of choroid plexus		Schimke immuno-osseous dysplasia
	Very frequent - 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 - Abnormal vertebral size / shape - Anaemia - Complete / partial microdontia - Depressed nasal bridge - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intrauterine growth retardation - Long / large / bulbous nose - Lordosis - Lymphopenia - Nephrotic syndrome - Pigmented naevi / naevus pigmentosus / lentigo - Proteinuria - Renal glomerular defect / glomerulopathy - Short neck - Short stature / dwarfism / nanism - T-cell deficiency / cellular immunity deficiency - Thrombocytopenia / thrombopenia Frequent - Cafe-au-lait spot