SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: Oculomotor apraxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 GeneticVariation disease BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia characterized by onset between 10 and 20 years of age and a range of neurological features that include progressive cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia in a majority of patients, and elevated serum alpha-fetoprotein (AFP). 30778901 2019
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 GeneticVariation disease BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar atrophy, peripheral neuropathy and oculomotor apraxia. 30642639 2019
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 GeneticVariation disease BEFREE SMN interacts with senataxin, which is sometimes mutated in ataxia oculomotor apraxia type 2 and amyotrophic lateral sclerosis. 26700805 2016
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 GeneticVariation disease BEFREE Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. 24183476 2014
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 Biomarker disease BEFREE The phenotype was consistent with previous descriptions of AOA2, except for a higher frequency of strabism, and for the absence of oculomotor apraxia. 23941260 2013
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 GeneticVariation disease BEFREE Mutations in APTX , SETX and MRE11 are common in patients with autosomal recessive ataxia and oculomotor apraxia. 21324166 2011
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 Biomarker disease BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. 21112256 2011
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 Biomarker disease BEFREE Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. 19515850 2009
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 GeneticVariation disease BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. 19696032 2009
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 GeneticVariation disease BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease caused by SETX mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated alpha-fetoprotein (AFP) serum level, and occasional oculomotor apraxia. 18625865 2008
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 Biomarker disease BEFREE Ataxia-oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. 16700949 2006
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 GeneticVariation disease BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. 16636238 2006
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 Biomarker disease HPO