OBO ID: DOID:0050755
Term Name: spinocerebellar ataxia with axonal neuropathy 2 Search Ontology:
Synonyms:
  • AOA2
  • ataxia with oculomotor apraxia type 2
  • autosomal recessive spinocerebellar ataxia 1
  • autosomal recessive spinocerebellar ataxia with axonal neuropathy 2
  • SCAN2
  • SCAR1
  • spinocerebellar ataxia with axonal neuropathy type 2
Definition: An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (3)
References:
Ontology: Human Disease   ( DOID:0050755 )
OTHER spinocerebellar ataxia with axonal neuropathy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SETX Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 606002
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None