AOA3
MCID: ATX024
MIFTS: 45

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 57 12 20 73 29 13 6 71
Ataxia with Oculomotor Apraxia Type 3 12 20 15
Aoa3 57 20 73
Ataxia-Oculomotor Apraxia, Type 3 39
Aaxia-Oculomotor Apraxia-3 20
Cerebellar Ataxia 44
Apraxias 44

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Ataxia-Oculomotor Apraxia 3, also known as ataxia with oculomotor apraxia type 3, is related to spinocerebellar ataxia, autosomal recessive 8 and coenzyme q10 deficiency, primary, 4, 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 spinal cord, eye and brain, and related phenotypes are nystagmus and dysarthria

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 904)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 32.3 SETX APTX
2 coenzyme q10 deficiency, primary, 4 32.0 SETX APTX
3 spastic ataxia, charlevoix-saguenay type 31.9 SETX APTX
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.8 TDP1 SETX APTX
5 autosomal dominant cerebellar ataxia 31.6 TDP1 SETX APTX
6 autosomal recessive cerebellar ataxia 31.5 TDP1 SETX APTX
7 dentatorubral-pallidoluysian atrophy 31.5 SETX APTX
8 spastic ataxia 31.3 SETX APTX
9 vitamin e, familial isolated deficiency of 31.2 SETX APTX
10 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 31.2 SETX PIK3R5 APTX
11 spinocerebellar ataxia type 1 with axonal neuropathy 30.6 TDP1 SETX APTX
12 friedreich ataxia 30.2 SETX APTX
13 hereditary ataxia 30.1 TDP1 SETX APTX
14 choreatic disease 30.1 SETX APTX
15 spastic paraplegia 7, autosomal recessive 30.1 SETX APTX
16 cerebellar disease 30.0 TDP1 SETX APTX
17 axonal neuropathy 30.0 TDP1 SETX GAN
18 peripheral nervous system disease 29.7 TDP1 SETX GAN APTX
19 neuropathy 29.6 TDP1 SLC12A6 SETX GAN APTX
20 oculomotor apraxia 29.5 SETX PIK3R5 APTX
21 apraxia 29.5 SETX PIK3R5 APTX
22 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.8
23 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.8
24 gillespie syndrome 11.8
25 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 11.7
26 gordon holmes syndrome 11.7
27 cerebellar ataxia, nonprogressive, with mental retardation 11.7
28 cerebellar ataxia, cayman type 11.7
29 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 11.7
30 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 11.7
31 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.7
32 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 11.6
33 short-rib thoracic dysplasia 9 with or without polydactyly 11.6
34 spinocerebellar ataxia 7 11.6
35 cerebellar ataxia and ectodermal dysplasia 11.6
36 cerebellar ataxia, early-onset, with retained tendon reflexes 11.6
37 brachydactyly-nystagmus-cerebellar ataxia 11.6
38 cognitive impairment with or without cerebellar ataxia 11.6
39 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 11.6
40 myoclonus, cerebellar ataxia, and deafness 11.5
41 spinocerebellar ataxia, autosomal recessive 4 11.5
42 spinocerebellar ataxia 29 11.5
43 spinocerebellar ataxia, autosomal recessive 14 11.5
44 spinocerebellar ataxia 27 11.5
45 spinocerebellar ataxia, autosomal recessive 6 11.5
46 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 11.5
47 aceruloplasminemia 11.5
48 spinocerebellar ataxia, x-linked 1 11.5
49 spinocerebellar ataxia, autosomal recessive 18 11.5
50 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 11.5

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 nystagmus 31 HP:0000639
2 dysarthria 31 HP:0001260
3 muscle weakness 31 HP:0001324
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®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
oculomotor apraxia
slow saccades
impaired ocular movements
head-eye lag

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

Neurologic Central Nervous System:
ataxia
dysarthria
dysmetria
cerebellar atrophy
frequent falls
more
Laboratory Abnormalities:
increased alpha-fetoprotein

Clinical features from OMIM®:

615217 (Updated 05-Mar-2021)

UMLS symptoms related to Ataxia-Oculomotor Apraxia 3:


ataxia

MGI Mouse Phenotypes related to Ataxia-Oculomotor Apraxia 3:

46
# 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 196)
# 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
Metformin Approved Phase 4 657-24-9 14219 4091
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Citalopram Approved Phase 4 59729-33-8 2771
8
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
9
Amantadine Approved Phase 4 768-94-5 2130
10
Tolvaptan Approved Phase 4 150683-30-0 216237
11 Estradiol 17 beta-cypionate Phase 4
12 Insulin, Globin Zinc Phase 4
13 Estradiol 3-benzoate Phase 4
14 Mitogens Phase 4
15 Estrogens Phase 4
16 Contraceptive Agents Phase 4
17 Adrenergic alpha-Agonists Phase 4
18 insulin Phase 4
19 Sympatholytics Phase 4
20 Adrenergic Agents Phase 4
21 Adrenergic Agonists Phase 4
22 Neurotransmitter Agents Phase 4
23 Anti-Infective Agents Phase 4
24 Antiviral Agents Phase 4
25 Antidepressive Agents Phase 4
26 Psychotropic Drugs Phase 4
27 Hypoglycemic Agents Phase 4
28 Cholinergic Agents Phase 4
29 Parasympatholytics Phase 4
30 Dopamine Agents Phase 4
31 Cytochrome P-450 Enzyme Inhibitors Phase 4
32 Dopamine Uptake Inhibitors Phase 4
33 Antiparkinson Agents Phase 4
34 Cholinergic Antagonists Phase 4
35 Muscarinic Antagonists Phase 4
36 Serotonin Uptake Inhibitors Phase 4
37 Hormones Phase 4
38 Liver Extracts Phase 4
39 Arginine Vasopressin Phase 4
40 Vasopressins Phase 4
41
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
42
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
43
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
44
Idebenone Approved, Investigational Phase 3 58186-27-9
45
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
46
Ethanol Approved Phase 3 64-17-5 702
47
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
48
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
49
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
50
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915

Interventional clinical trials:

(show top 50) (show all 211)
# 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 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 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
4 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
6 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4 Tolvaptan;Placebo
7 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
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 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
10 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
11 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
12 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
13 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
14 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
15 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
16 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
17 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
18 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
19 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
20 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
21 A Randomized, Parallel-Arm, Double-Blind, Placebo-Controlled Study With Open-Label Extension to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Friedreich Ataxia (MOVE-FA) Recruiting NCT04577352 Phase 2, Phase 3 Vatiquinone;Placebo
22 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
23 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
24 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
25 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;Troriluzole
26 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 Active, not recruiting NCT04102501 Phase 3 RT001;Placebo
27 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
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 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
34 Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells Completed NCT01649687 Phase 1, Phase 2
35 An Open Label Clinical Pilot Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
36 Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
37 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
38 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Completed NCT02603926 Phase 2 Allopregnanolone
39 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
40 A Six Month Double-Blind, Placebo-Controlled Phase 2 Clinical Trial to Determine the Safety and Efficacy of Idebenone Administered to Patients With Friedreich's Ataxia Completed NCT00229632 Phase 2 Idebenone
41 Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
42 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
43 Randomised, Double Blind, Placebo Controlled Study of Lu AA24493 in Patients With Friedreich's Ataxia to Evaluate Safety and Tolerability and to Explore Efficacy Completed NCT01016366 Phase 2 Lu AA24493;Placebo
44 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
45 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
46 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
47 Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2 Epoetin alfa
48 A Double-blind, Randomized, Placebo-controlled, Clinical Trial to Test the Efficacy of Epoetin Alfa on Physical Performance of Friedreich Ataxia Patients. Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
49 An Open-label, Single Treatment, Safety and Efficacy, Long-term Study of Deferiprone in Subjects With Friedreich's Ataxia Completed NCT00897221 Phase 2 Deferiprone oral solution 100mg/mL;Deferiprone oral solution 100 mg/mL
50 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon

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
Spinal Cord, Eye, Brain, Cortex, Cerebellum, Liver, Bone Marrow

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. 57 6
22065524 2012
2
Comparative study of preimplantation development following distinct assisted oocyte activation protocols in a PLC-zeta knockout mouse model. 61
32898251 2020
3
Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses. 61
25868131 2015
4
[Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic]. 61
23250602 2012
5
Ataxia with oculomotor apraxia. 61
19073331 2008
6
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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