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Spinocerebellar ataxia type 2
1 OMIM reference -
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Chuvash erythrocytosis
Von Hippel-Lindau disease
Spinocerebellar ataxia type 1
X-linked osteoporosis with fractures
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Autosomal recessive centronuclear myopathy
46,XY partial gonadal dysgenesis
Autosomal dominant macrothrombocytopenia
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Familial isolated dilated cardiomyopathy
Giant cell glioblastoma
Gliosarcoma
Goldberg-Shprintzen megacolon syndrome
Gray platelet syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Papillary or follicular thyroid carcinoma
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Split hand-split foot malformation
Young adult-onset Parkinsonism
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Synonym(s):
- SCA2
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATXN2 Q99700601517
No signs/symptoms info available.