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1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial infantile bilateral striatal necrosis

2 OMIM references -
3 associated genes
No signs/symptoms info

GCS1-CDG

Familial infantile bilateral striatal necrosis

MOGS	(UniProt - OMIM)		ADAR	(UniProt - OMIM)
			MT-ATP6	(UniProt - OMIM)
			NUP62	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MOGS	(0.49)	NUP62

Citations in the biomedical literature:

GCS1-CDG		Familial infantile bilateral striatal necrosis
	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): - Familial IBSN - Familial infantile striatonigral degeneration - Familial infantile striatonigral necrosis

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	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: 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 - No MeSH references		External references: 2 OMIM references - No MeSH references

GCS1-CDG
	Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatocellular liver disease / hepatic failure - Seizures / epilepsy / absences / spasms / status epilepticus
Familial infantile bilateral striatal necrosis
(no data available)