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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
3 OMIM references -
3 associated genes
No signs/symptoms info
Familial infantile bilateral striatal necrosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

ADAR HNRNPA1
MT-ATP6 HNRNPA2B1
NUP62 VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ADAR
NUP62
(0.63)
(0.63)
HNRNPA1
VCP



Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Familial infantile bilateral striatal necrosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
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: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
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.