ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Papilloma of choroid plexus

Congenital lactic acidosis, Saguenay-Lac-St. Jean type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP53	(0.73)	LRPPRC

Citations in the biomedical literature:

Papilloma of choroid plexus		Congenital lactic acidosis, Saguenay-Lac-St. Jean type
	Synonym(s): (no synonyms)		Synonym(s): - French-Canadian type COX deficiency - French-Canadian type Leigh syndrome - French-Canadian type cytochrome C oxidase deficiency - SLSJ-COX deficiency - Saguenay-Lac-St. Jean cytochrome oxidase deficiency - Saguenay-Lac-St. Jean type Leigh syndrome

	Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown 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 - No MeSH references

Papilloma of choroid plexus
	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
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
(no data available)