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Spinocerebellar ataxia with axonal neuropathy type 2
2 OMIM references -
2 associated genes
18 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis type 4
Apolipoprotein A-I deficiency
Congenital analbuminemia
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Burkitt lymphoma
Congenital atransferrinemia
Ehlers-Danlos syndrome, dermatosparaxis type
Familial amyloid polyneuropathy
Precursor T-cell acute lymphoblastic leukemia
Transthyretin-related familial amyloid cardiomyopathy
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- AOA2
- Ataxia - oculomotor apraxia type 2
- SCAN 2
- SCAR1
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
PIK3R5 Q8WYR1611317
SETX Q7Z333608465
No signs/symptoms info available.