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Familial infantile bilateral striatal necrosis
2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
3 OMIM references -
2 associated genes
No signs/symptoms info
Familial infantile bilateral striatal necrosis
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

ADAR
(UniProt - OMIM)
 MUC1
(UniProt - OMIM)
MT-ATP6
(UniProt - OMIM)
 UMOD
(UniProt - OMIM)
NUP62
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NUP62
(0.68)
MUC1


Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
MUC1 UMOD



Familial infantile bilateral striatal necrosis
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis
Synonym(s):
- Autosomal dominant nephronophthisis
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.