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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal recessive ataxia due to ubiquinone deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

ADCK3 HNRNPA1
HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ADCK3
(0.63)
VCP



Citations in the biomedical literature:


Autosomal recessive ataxia due to ubiquinone deficiency
ADCK3
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Autosomal recessive ataxia due to ubiquinone deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
- ARCA2
- Autosomal recessive ataxia due to coenzyme Q10 deficiency
- Autosomal recessive cerebellar ataxia type 2
- Autosomal recessive spinocerebellar ataxia type 9
- SCAR9

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

Classification (Orphanet):
- Inborn errors of metabolism
- 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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.