ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Papilloma of choroid plexus

1 OMIM reference -
1 associated gene
10 signs/symptoms

GCS1-CDG

Papilloma of choroid plexus

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

GCS1-CDG		Papilloma of choroid plexus
	Synonym(s): - CDG syndrome type IIb - CDG-IIb - CDG2B - Carbohydrate deficient glycoprotein syndrome type IIb - Congenital disorder of glycosylation type 2b - Congenital disorder of glycosylation type IIb - Glucosidase 1 deficiency		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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


COMMON SIGNS	- Seizures / epilepsy / absences / spasms / status epilepticus

GCS1-CDG		Papilloma of choroid plexus
	Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatocellular liver disease / hepatic failure		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