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DOID:0050755 - spinocerebellar ataxia with axonal neuropathy 2
Disease Ontology 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.
Synonyms: spinocerebellar ataxia with axonal neuropathy type 2, AOA2, ataxia with oculomotor apraxia type 2, autosomal recessive spinocerebellar ataxia 1, autosomal recessive spinocerebellar ataxia with axonal neuropathy 2, SCAN2, SCAR1
Xenbase Genes
:
setx,
pik3r5
| MONDO:0018996 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| MIM:606002 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2; SCAN2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive cerebellar ataxia (is_a)