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MCID: OCL015
MIFTS: 39

Oculomotor Apraxia

Categories: Eye diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Oculomotor Apraxia

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MalaCards integrated aliases for Oculomotor Apraxia:

Name: Oculomotor Apraxia 58 29 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases


External Ids:

Orphanet 58 ORPHA98688
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Summaries for Oculomotor Apraxia

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MalaCards based summary : Oculomotor Apraxia is related to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 and ataxia-oculomotor apraxia 3, and has symptoms including ophthalmoparesis An important gene associated with Oculomotor Apraxia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and pineal, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 Oculomotor apraxia (OMA), is the absence or defect of controlled, voluntary, and purposeful eye... more...

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Related Diseases for Oculomotor Apraxia

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

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 33.2 SETX PIK3R5 APTX
2 ataxia-oculomotor apraxia 3 33.1 SETX PIK3R5 APTX
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.5 XRCC1 SETX PNKP MRE11 ATM APTX
4 joubert syndrome 2 32.3 NPHP1 AHI1
5 joubert syndrome 25 32.3 CSPP1 CEP104
6 joubert syndrome 6 32.1 NPHP1 AHI1
7 joubert syndrome 21 32.1 CSPP1 CEP104
8 joubert syndrome 10 31.9 NPHP1 AHI1
9 joubert syndrome 26 31.9 CSPP1 CEP104
10 joubert syndrome 24 31.9 NPHP1 AHI1
11 joubert syndrome 13 31.9 NPHP1 AHI1
12 joubert syndrome 8 31.8 NPHP1 AHI1
13 joubert syndrome 7 31.8 NPHP1 AHI1
14 joubert syndrome 5 31.7 NPHP1 AHI1
15 ataxia-telangiectasia 31.6 XRCC1 MRE11 ATM APTX
16 ocular motor apraxia 31.6 NPHP1 HARS1 DHX30 COMA ATM APTX
17 joubert syndrome 4 31.5 NPHP1 AHI1
18 autosomal recessive cerebellar ataxia 30.9 SETX ATM APTX
19 cogan syndrome 30.7 NPHP1 AHI1
20 apraxia 30.5 XRCC1 SETX PNKP PIK3R5 NPHP1 CSPP1
21 ataxia with vitamin 3 deficiency 30.3 SETX APTX
22 hereditary ataxia 30.3 SETX PNKP ATM APTX
23 autosomal dominant cerebellar ataxia 29.8 SETX PNKP APTX
24 microcephaly 28.6 XRCC4 PNKP MRE11 HARS1 DHX30 ATM
25 ataxia-oculomotor apraxia 4 11.9
26 wieacker-wolff syndrome 11.5
27 birk-landau-perez syndrome 11.4
28 joubert syndrome 16 11.3
29 joubert syndrome 15 11.2
30 spastic ataxia 5, autosomal recessive 11.2
31 joubert syndrome 35 11.2
32 poretti-boltshauser syndrome 11.2
33 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 11.2
34 joubert syndrome 1 11.1
35 ataxia-telangiectasia-like disorder 1 11.1
36 acrocallosal syndrome 11.1
37 anemia, sideroblastic, and spinocerebellar ataxia 11.1
38 joubert syndrome 3 11.1
39 joubert syndrome 9 11.1
40 nephronophthisis 12 11.1
41 spinocerebellar ataxia 36 11.1
42 meckel syndrome, type 10 11.1
43 joubert syndrome 17 11.1
44 joubert syndrome 18 11.1
45 nephronophthisis 14 11.1
46 joubert syndrome 20 11.1
47 joubert syndrome 22 11.1
48 joubert syndrome 23 11.1
49 joubert syndrome 27 11.1
50 joubert syndrome 28 11.1

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



Diseases related to Oculomotor Apraxia
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Symptoms & Phenotypes for Oculomotor Apraxia

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UMLS symptoms related to Oculomotor Apraxia:


ophthalmoparesis

GenomeRNAi Phenotypes related to Oculomotor Apraxia according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.91 PIK3R5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.91 DHX30
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.91 PIK3R5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.91 ATM DHX30
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.91 PIK3R5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.91 HARS1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.91 DHX30
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.91 DHX30
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.91 ATM
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.91 ATM
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.91 DHX30
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.91 HARS1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.91 HARS1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.91 PIK3R5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.91 DHX30
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.91 HARS1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.91 ATM
18 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.44 MRE11 SETX XRCC1
19 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.44 ATM MRE11 SETX XRCC1
20 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.44 ATM MRE11 PNKP SETX XRCC1 XRCC4

MGI Mouse Phenotypes related to Oculomotor Apraxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.32 AHI1 APTX ATM MRE11 NPHP1 PIK3R5
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Drugs & Therapeutics for Oculomotor Apraxia

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
3
Lecithin Experimental Phase 3 8002-43-5
4 Complement System Proteins Phase 3
5 Trace Elements Phase 3
6 Nutrients Phase 3
7 Ubiquinone Phase 3
8 Micronutrients Phase 3
9 Vitamins Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3

Search NIH Clinical Center for Oculomotor Apraxia

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Genetic Tests for Oculomotor Apraxia

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Genetic tests related to Oculomotor Apraxia:

# Genetic test Affiliating Genes
1 Oculomotor Apraxia 29
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Anatomical Context for Oculomotor Apraxia

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MalaCards organs/tissues related to Oculomotor Apraxia:

40
Eye, Bone Marrow, Pineal, Cerebellum, Breast
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Publications for Oculomotor Apraxia

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Articles related to Oculomotor Apraxia:

(show top 50) (show all 398)
# Title Authors PMID Year
1
Some pathogenic SETX variants are partially conserved during evolution. 61
33333218 2021
2
Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings. 61
33770309 2021
3
Teaching Video NeuroImages: Posterior Cortical Atrophy Presenting With Balint Syndrome. 61
32928969 2021
4
Premature ovarian ageing following heterozygous loss of Senataxin. 61
33337500 2021
5
A New Phenotype of Ataxia With Oculomotor Apraxia Type 4. 61
33654647 2021
6
A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia. 61
32172615 2021
7
Who is really blind in the time of coronavirus: the patient or the doctor? A rare case of Balint's syndrome. 61
33400067 2021
8
Clinical and radiological features of posterior cortical atrophy (PCA) in a GRN mutation carrier: a case report. 61
33030763 2021
9
Asymmetric Bálint's syndrome with multimodal agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading due to subcortical hemorrhage in the left parieto-occipito-temporal area. 61
33103577 2020
10
Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation. 61
33080427 2020
11
Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker. 61
33044027 2020
12
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort. 61
32980744 2020
13
Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. 61
32769066 2020
14
Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome. 61
33101765 2020
15
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation. 61
32686621 2020
16
An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene. 61
33531950 2020
17
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair. 61
32504494 2020
18
Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly. 61
32577562 2020
19
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. 61
32139166 2020
20
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. 61
32004679 2020
21
Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype. 61
32340215 2020
22
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population. 61
33042236 2020
23
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report. 61
32000717 2020
24
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. 61
32750061 2020
25
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
26
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. 61
31577543 2020
27
Linker region is required for efficient nuclear localization of polynucleotide kinase phosphatase. 61
32970693 2020
28
Clinical Presentation of Ataxia-Telangiectasia. 61
31823618 2019
29
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations. 61
31436889 2019
30
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). 61
30423442 2019
31
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene. 61
31777525 2019
32
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay. 61
31707899 2019
33
A Preventable Ataxia: Cerebrotendinous Xanthomatosis. 61
31736580 2019
34
Teaching Video NeuroImages: Characteristic head jerks in congenital oculomotor apraxia due to Joubert syndrome. 61
31501314 2019
35
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. 61
31763177 2019
36
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. 61
30956058 2019
37
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families. 61
31061747 2019
38
Gaucher disease type 3c: New patients with unique presentations and review of the literature. 61
31130326 2019
39
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). 61
30778901 2019
40
Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. 61
30642639 2019
41
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report. 61
31182894 2019
42
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells. 61
30986824 2019
43
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. 61
30905400 2019
44
A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil. 61
30389370 2019
45
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. 61
30301590 2019
46
[Diagnostic algorithm for autosomal recessive ataxia]. 61
31626222 2019
47
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature. 61
31656689 2019
48
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4. 61
32010037 2019
49
A new MRI marker of ataxia with oculomotor apraxia. 61
30599859 2019
50
[Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies]. 61
30525879 2018
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Variations for Oculomotor Apraxia

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ClinVar genetic disease variations for Oculomotor Apraxia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATM NM_000051.3(ATM):c.689del (p.Asn230fs) Deletion Pathogenic 374194 rs1057518965 GRCh37: 11:108115539-108115539
GRCh38: 11:108244812-108244812
2 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His) SNV Pathogenic 375374 rs1057519436 GRCh37: 3:47888040-47888040
GRCh38: 3:47846550-47846550
3 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) SNV Pathogenic 804285 rs1131040 GRCh37: 5:140057507-140057507
GRCh38: 5:140677922-140677922
4 HARS1 NM_002109.6(HARS1):c.730delG Deletion Pathogenic 804286 rs1581505917 GRCh37: 5:140057005-140057005
GRCh38: 5:140677420-140677420
5 TGM6 NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) SNV Uncertain significance 523569 rs766248910 GRCh37: 20:2375166-2375166
GRCh38: 20:2394520-2394520
6 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser) SNV Uncertain significance 599009 rs140073033 GRCh37: 15:28474681-28474681
GRCh38: 15:28229535-28229535
7 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln) SNV Uncertain significance 599010 rs765668209 GRCh37: 19:38943526-38943526
GRCh38: 19:38452886-38452886
8 AHI1 NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) SNV Uncertain significance 260843 rs755688765 GRCh37: 6:135752420-135752420
GRCh38: 6:135431282-135431282
9 ARFGEF1 , CSPP1 NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) SNV Uncertain significance 510229 rs201629827 GRCh37: 8:68102960-68102960
GRCh38: 8:67190725-67190725
10 TCF4 NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp) SNV Likely benign 983479 rs1016959427 GRCh37: 18:52924586-52924586
GRCh38: 18:55257355-55257355
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Expression for Oculomotor Apraxia

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Search GEO for disease gene expression data for Oculomotor Apraxia.
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Pathways for Oculomotor Apraxia

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Pathways related to Oculomotor Apraxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 65
Show member pathways
 12.8 XRCC4 XRCC1 PNKP MRE11 ATM
2
Chks in Checkpoint Regulation 63
Show member pathways
 12.16 XRCC4 XRCC1 PNKP MRE11 ATM
3
DNA Damage 4
11.82 XRCC1 PNKP MRE11 ATM APTX
4
BARD1 signaling events 1
10.83 MRE11 ATM
5
Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics 60
10.68 XRCC4 ATM
6
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 10.46 MRE11 ATM
7
DNA damage_NHEJ mechanisms of DSBs repair 23
10.18 XRCC4 PNKP MRE11
Sources

GO Terms for Oculomotor Apraxia

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Cellular components related to Oculomotor Apraxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 8.92 XRCC1 SETX MRE11 ATM

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.65 PNKP MRE11 APTX
2 DNA recombination GO:0006310 9.61 XRCC4 SETX MRE11
3 double-strand break repair via nonhomologous end joining GO:0006303 9.56 XRCC4 XRCC1 MRE11 ATM
4 double-strand break repair via homologous recombination GO:0000724 9.54 XRCC1 MRE11 ATM
5 positive regulation of telomere maintenance via telomerase GO:0032212 9.51 PNKP ATM
6 cellular response to DNA damage stimulus GO:0006974 9.5 XRCC4 XRCC1 SETX PNKP MRE11 ATM
7 reciprocal meiotic recombination GO:0007131 9.49 MRE11 ATM
8 DNA double-strand break processing GO:0000729 9.46 MRE11 ATM
9 double-strand break repair GO:0006302 9.46 XRCC4 SETX MRE11 APTX
10 single strand break repair GO:0000012 9.4 XRCC1 APTX
11 negative regulation of protein ADP-ribosylation GO:0010836 9.32 XRCC1 PNKP
12 DNA repair GO:0006281 9.17 XRCC4 XRCC1 SETX PNKP MRE11 ATM

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.63 XRCC4 SETX MRE11 HARS1 ATM AHI1
2 double-stranded DNA binding GO:0003690 9.13 PNKP MRE11 APTX
3 damaged DNA binding GO:0003684 8.8 XRCC1 PNKP APTX
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Sources for Oculomotor Apraxia

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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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