AOA3
MCID: ATX024
MIFTS: 44

Ataxia-Oculomotor Apraxia 3 (AOA3)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ataxia-Oculomotor Apraxia 3

MalaCards integrated aliases for Ataxia-Oculomotor Apraxia 3:

Name: Ataxia-Oculomotor Apraxia 3 56 12 52 73 29 13 6 71
Ataxia with Oculomotor Apraxia Type 3 12 52 15
Aoa3 56 52 73
Ataxia-Oculomotor Apraxia, Type 3 39
Aaxia-Oculomotor Apraxia-3 52
Cerebellar Ataxia 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade
one consanguineous family has been reported (last curated may 2013)


HPO:

31
ataxia-oculomotor apraxia 3:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Ataxia-Oculomotor Apraxia 3

OMIM : 56 AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920). (615217)

MalaCards based summary : Ataxia-Oculomotor Apraxia 3, also known as ataxia with oculomotor apraxia type 3, is related to autosomal dominant cerebellar ataxia and autosomal recessive cerebellar ataxia, and has symptoms including ataxia An important gene associated with Ataxia-Oculomotor Apraxia 3 is PIK3R5 (Phosphoinositide-3-Kinase Regulatory Subunit 5). The drugs Estradiol and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related phenotypes are muscle weakness and nystagmus

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has material basis in homozygous mutation in the PIK3R5 gene on chromosome 17p13.

UniProtKB/Swiss-Prot : 73 Ataxia-oculomotor apraxia 3: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy.

Related Diseases for Ataxia-Oculomotor Apraxia 3

Diseases in the Ataxia-Oculomotor Apraxia 3 family:

Ataxia-Oculomotor Apraxia 4

Diseases related to Ataxia-Oculomotor Apraxia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 888)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 33.1 TDP1 SETX APTX
2 autosomal recessive cerebellar ataxia 33.1 TDP1 SETX APTX
3 spastic ataxia, charlevoix-saguenay type 32.7 SETX APTX
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.4 TDP1 SETX PIK3R5 APTX
5 vitamin e, familial isolated deficiency of 32.1 SETX APTX
6 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 31.9 SETX APTX
7 spinocerebellar ataxia type 1 with axonal neuropathy 30.8 TDP1 SETX APTX
8 friedreich ataxia 30.6 SETX APTX
9 cerebellar disease 30.2 SETX APTX
10 hereditary ataxia 30.1 TDP1 SETX APTX
11 oculomotor apraxia 29.6 SETX PIK3R5 APTX
12 apraxia 29.6 SETX PIK3R5 APTX
13 axonal neuropathy 29.6 TDP1 SETX GAN
14 neuropathy 29.6 TDP1 SLC12A6 SETX GAN
15 peripheral nervous system disease 28.7 TDP1 SLC12A6 SETX GAN APTX
16 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.8
17 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.8
18 cerebellar ataxia, nonprogressive, with mental retardation 12.8
19 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.8
20 cerebellar ataxia, early-onset, with retained tendon reflexes 12.7
21 cerebellar ataxia and ectodermal dysplasia 12.7
22 cerebellar ataxia, cayman type 12.7
23 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 12.7
24 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.7
25 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 12.7
26 myoclonus, cerebellar ataxia, and deafness 12.7
27 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.7
28 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 12.6
29 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 12.6
30 cerebellar ataxia type 47 12.6
31 cognitive impairment with or without cerebellar ataxia 12.6
32 brachydactyly-nystagmus-cerebellar ataxia 12.6
33 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.6
34 cerebellar ataxia type 42 12.5
35 x-linked cerebellar ataxia 12.5
36 cerebellar ataxia type 9 12.5
37 spinocerebellar ataxia, autosomal recessive 8 12.4
38 cerebellar ataxia type 41 12.4
39 cerebellar ataxia type 43 12.4
40 cerebellar ataxia type 48 12.4
41 gillespie syndrome 12.4
42 autosomal dominant cerebellar ataxia type i 12.4
43 gordon holmes syndrome 12.4
44 autosomal dominant cerebellar ataxia type iii 12.4
45 cerebellar ataxia and hypergonadotropic hypogonadism 12.4
46 cerebellar ataxia, benign, with thermoanalgesia 12.4
47 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 12.4
48 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.3
49 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 12.3
50 autosomal recessive cerebellar ataxia due to a dna repair defect 12.3

Graphical network of the top 20 diseases related to Ataxia-Oculomotor Apraxia 3:



Diseases related to Ataxia-Oculomotor Apraxia 3

Symptoms & Phenotypes for Ataxia-Oculomotor Apraxia 3

Human phenotypes related to Ataxia-Oculomotor Apraxia 3:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 nystagmus 31 HP:0000639
3 dysarthria 31 HP:0001260
4 areflexia 31 HP:0001284
5 dysmetria 31 HP:0001310
6 hyporeflexia 31 HP:0001265
7 cerebellar atrophy 31 HP:0001272
8 polyneuropathy 31 HP:0001271
9 oculomotor apraxia 31 HP:0000657
10 frequent falls 31 HP:0002359
11 distal sensory impairment 31 HP:0002936
12 slow saccadic eye movements 31 HP:0000514

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
dysarthria
dysmetria
cerebellar atrophy
frequent falls
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
axonal sensory polyneuropathy
distal sensory loss (predominantly in lower limbs)

Muscle Soft Tissue:
distal muscle atrophy, predominantly lower limbs
distal muscle weakness, predominantly lower limbs

Head And Neck Eyes:
nystagmus
oculomotor apraxia
slow saccades
impaired ocular movements
head-eye lag

Laboratory Abnormalities:
increased alpha-fetoprotein

Clinical features from OMIM:

615217

UMLS symptoms related to Ataxia-Oculomotor Apraxia 3:


ataxia

MGI Mouse Phenotypes related to Ataxia-Oculomotor Apraxia 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.1 APTX GAN PIK3R5 SETX SLC12A6 TDP1

Drugs & Therapeutics for Ataxia-Oculomotor Apraxia 3

Drugs for Ataxia-Oculomotor Apraxia 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 188)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Citalopram Approved Phase 4 59729-33-8 2771
5
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Amantadine Approved Phase 4 768-94-5 2130
8
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
9
Metformin Approved Phase 4 657-24-9 14219 4091
10 Neurotransmitter Agents Phase 4
11 Analgesics Phase 4
12 Antihypertensive Agents Phase 4
13 Adrenergic alpha-Agonists Phase 4
14 Insulin, Globin Zinc Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Mitogens Phase 4
17 Adrenergic Agents Phase 4
18 Estradiol 3-benzoate Phase 4
19 Contraceptive Agents Phase 4
20 insulin Phase 4
21 Sympatholytics Phase 4
22 Adrenergic Agonists Phase 4
23 Estrogens Phase 4
24 Cholinergic Agents Phase 4
25 Dopamine Agents Phase 4
26 Cytochrome P-450 Enzyme Inhibitors Phase 4
27 Antidepressive Agents Phase 4
28 Parasympatholytics Phase 4
29 Antiparkinson Agents Phase 4
30 Psychotropic Drugs Phase 4
31 Serotonin Uptake Inhibitors Phase 4
32 Muscarinic Antagonists Phase 4
33 Cholinergic Antagonists Phase 4
34 Hypoglycemic Agents Phase 4
35 TA 0910 Phase 4
36
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
37
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
38
Droxidopa Approved, Investigational Phase 2, Phase 3 23651-95-8 443940
39
Idarubicin Approved Phase 3 58957-92-9 42890
40
Idebenone Approved, Investigational Phase 3 58186-27-9
41
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
42
Ethanol Approved Phase 3 64-17-5 702
43
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
45
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
46
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
47
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
48 Ubiquinone Phase 3
49 Antioxidants Phase 3
50 interferons Phase 3

Interventional clinical trials:

(show top 50) (show all 177)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
3 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
5 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
6 Evaluate the Long-term (3 Months) Efficacy of L-threo DOPS (DroxiDopa) on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With Multiple System Atrophy (MSA). Comparative Study Versus Placebo Unknown status NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
7 A Prospective Randomized Comparison of Idarubicin and High-dose Daunorubicin in Combination With Cytarabine in the Induction Chemotherapy for Acute Myeloid Leukemia Unknown status NCT01145846 Phase 3 Cytarabine plus Daunorubicin [Arm II (AD regimen)]
8 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
9 A Phase III Open-Label, Single-Group, Extension Study to Obtain Long-Term Safety and Tolerability Data of Idebenone in the Treatment of Friedreich's Ataxia Patients. Completed NCT00993967 Phase 3 idebenone
10 A Phase III Open-Label, Single Group Extension Study of the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
11 A Phase III Double-Blind, Randomized, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
12 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
13 Randomized, Multicenter, Double-Blind, Placebo-Controlled, Efficacy, Safety, and Pharmacokinetic Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
14 A Phase IIIb Double-Blind, Randomised, Placebo-Controlled Study of Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone Completed NCT01303406 Phase 3 Idebenone;Placebo
15 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
16 Multicenter, Safety and Efficacy, Open-Label Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02593773 Phase 3 Interferon γ-1b
17 A Phase III Double-blind, Randomised, Placebo-controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00905268 Phase 3 idebenone;Placebo
18 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
19 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
20 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
21 Gut Microbiota Alteration and Improvement of Ataxia in Patients of Multiple System Atrophy Treating With Tllsh2910 - a Randomized, Placebo-controlled, Double-blinded, Cross-over, Single-center Clinical Trial Recruiting NCT03901638 Phase 3 Tllsh2910;Placebo
22 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Recruiting NCT03701399 Phase 3 troriluzole;Placebos
23 A Randomized, Double-Blind, Controlled, Phase 2/3 Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia Recruiting NCT04102501 Phase 3 RT001;Placebo
24 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Recruiting NCT03347344 Phase 3 Riluzole;Placebo
25 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
26 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo Comparator
27 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
28 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
29 Clinical Study to Evaluate the Safety and Efficacy of Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Cerebellar Ataxia .It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01958177 Phase 1, Phase 2
30 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
31 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
32 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
33 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Unknown status NCT03378414 Phase 2
34 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
35 Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells Completed NCT01649687 Phase 1, Phase 2
36 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
37 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
38 Safety and Efficacy Study of EPI-743 on Visual Function in Patients With Friedreich's Ataxia Completed NCT01728064 Phase 2 Placebo;EPI-743 400 mg;EPI-743 200 mg
39 Efficacy of EGb761 120mg Bid Versus Placebo in Patients Suffering From Friedreich Ataxia. A 3 Month, Phase II, Randomised, Double Blind, Placebo Controlled, Parallel Group Clinical Study. Completed NCT00824512 Phase 2 EGb 761 120 mg;Placebo
40 A Phase II, Open Label Prospective Single Center Drug Study Evaluating the Safety and Efficacy of (+)-Epicatechin in Subjects With Friedreich's Ataxia Completed NCT02660112 Phase 2 (+)-Epicatechin
41 A Randomized, Double-blind, Controlled Study to Assess the Safety, Tolerability, and Pharmacokinetics of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
42 A Phase IIa Clinical Trial to Test the Safety and Efficacy of Interferon Gamma Treatment in Elevating Frataxin Levels in Friedreich's Ataxia (FRDA) Patients Completed NCT02035020 Phase 2 gamma interferon
43 A Phase 2A Clinical Trial of EPI-743 (Vincerinone™) on Visual Function in Friedreich's Ataxia Patients With Point Mutations Completed NCT01962363 Phase 2 EPI-743
44 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
45 Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
46 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
47 An Open Label Clinical Pilot Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
48 A Six-month Double-blind, Randomized, Placebo-controlled Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00530127 Phase 1, Phase 2 placebo;deferiprone;deferiprone;placebo;deferiprone
49 A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
50 A Phase 2a, Double-Blind, Randomized, Placebo-Controlled, 28 Day, Three-arm, Parallel Group Study of A0001 in the Treatment of Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo

Search NIH Clinical Center for Ataxia-Oculomotor Apraxia 3

Cochrane evidence based reviews: cerebellar ataxia

Genetic Tests for Ataxia-Oculomotor Apraxia 3

Genetic tests related to Ataxia-Oculomotor Apraxia 3:

# Genetic test Affiliating Genes
1 Ataxia-Oculomotor Apraxia 3 29 PIK3R5

Anatomical Context for Ataxia-Oculomotor Apraxia 3

MalaCards organs/tissues related to Ataxia-Oculomotor Apraxia 3:

40
Brain, Testes, Spinal Cord, Liver, Eye, Bone, Cortex

Publications for Ataxia-Oculomotor Apraxia 3

Articles related to Ataxia-Oculomotor Apraxia 3:

# Title Authors PMID Year
1
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 6 56
22065524 2012
2
Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses. 61
25868131 2015
3
[Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic]. 61
23250602 2012
4
Ataxia with oculomotor apraxia. 61
19073331 2008
5
A subgroup of spinocerebellar ataxias defective in DNA damage responses. 61
17224243 2007

Variations for Ataxia-Oculomotor Apraxia 3

ClinVar genetic disease variations for Ataxia-Oculomotor Apraxia 3:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3R5 NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser)SNV Uncertain significance 48651 rs61761068 17:8790433-8790433 17:8887116-8887116

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Oculomotor Apraxia 3:

73
# Symbol AA change Variation ID SNP ID
1 PIK3R5 p.Pro629Ser VAR_067052 rs61761068

Expression for Ataxia-Oculomotor Apraxia 3

Search GEO for disease gene expression data for Ataxia-Oculomotor Apraxia 3.

Pathways for Ataxia-Oculomotor Apraxia 3

GO Terms for Ataxia-Oculomotor Apraxia 3

Biological processes related to Ataxia-Oculomotor Apraxia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.43 TDP1 SETX APTX
2 DNA repair GO:0006281 9.33 TDP1 SETX APTX
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.32 TDP1 APTX
4 single strand break repair GO:0000012 8.96 TDP1 APTX
5 double-strand break repair GO:0006302 8.8 TDP1 SETX APTX

Molecular functions related to Ataxia-Oculomotor Apraxia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 8.96 TDP1 APTX
2 single-stranded DNA binding GO:0003697 8.62 TDP1 APTX

Sources for Ataxia-Oculomotor Apraxia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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