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Autosomal recessive ataxia due to ubiquinone deficiency
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Pediatric systemic lupus erythematosus
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Young adult-onset Parkinsonism
Synonym(s):
- ARCA2
- Autosomal recessive ataxia due to coenzyme Q10 deficiency
- Autosomal recessive cerebellar ataxia type 2
- Autosomal recessive spinocerebellar ataxia type 9
- SCAR9
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ADCK3 Q8NI60606980
No signs/symptoms info available.