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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
Familial infantile bilateral striatal necrosis
GCS1-CDG

ADAR MOGS
MT-ATP6
NUP62


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
GCS1-CDG
MOGS



Familial infantile bilateral striatal necrosis
GCS1-CDG

Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral 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

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
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

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
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)