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MCID: OCL015
MIFTS: 35

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 ataxia-oculomotor apraxia 3 and spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, and has symptoms including ophthalmoparesis An important gene associated with Oculomotor Apraxia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways is DNA Damage. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and brain, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor

Wikipedia : 74 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 134)
# Related Disease Score Top Affiliating Genes
1 ataxia-oculomotor apraxia 3 34.7 SETX PIK3R5 APTX
2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 34.3 SETX APTX
3 ocular motor apraxia 33.8 NPHP1 COMA APTX
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.0 XRCC1 SETX PNKP PIK3R5 ATM APTX
5 joubert syndrome 2 32.5 NPHP1 AHI1
6 joubert syndrome 6 32.4 NPHP1 AHI1
7 joubert syndrome 21 32.3 NPHP1 CSPP1
8 joubert syndrome 10 32.2 NPHP1 AHI1
9 joubert syndrome 7 32.1 NPHP1 AHI1
10 joubert syndrome 24 32.1 NPHP1 AHI1
11 joubert syndrome 8 32.1 NPHP1 AHI1
12 joubert syndrome 5 32.1 NPHP1 AHI1
13 joubert syndrome 4 32.0 NPHP1 AHI1
14 joubert syndrome 3 31.7 NPHP1 AHI1
15 joubert syndrome 1 31.7 NPHP1 CSPP1 CEP104 AHI1
16 cogan syndrome 30.7 NPHP1 AHI1
17 autosomal recessive cerebellar ataxia 30.5 SETX ATM APTX
18 vitamin e, familial isolated deficiency of 30.5 SETX APTX
19 autosomal dominant cerebellar ataxia 30.3 SETX PNKP APTX
20 hereditary ataxia 29.8 SETX PNKP ATM APTX
21 autosomal recessive disease 29.5 XRCC1 PNKP PIK3R5 ATM
22 apraxia 29.2 XRCC1 SETX PNKP PIK3R5 NPHP1 CSPP1
23 ataxia-oculomotor apraxia 4 13.0
24 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.4
25 wieacker-wolff syndrome 12.1
26 birk-landau-perez syndrome 12.0
27 ataxia-telangiectasia 11.8
28 ataxia-telangiectasia-like disorder 1 11.6
29 joubert syndrome 16 11.5
30 joubert syndrome 25 11.5
31 joubert syndrome 15 11.5
32 spastic ataxia 5, autosomal recessive 11.5
33 joubert syndrome 35 11.5
34 poretti-boltshauser syndrome 11.4
35 acrocallosal syndrome 11.3
36 anemia, sideroblastic, and spinocerebellar ataxia 11.3
37 joubert syndrome 9 11.3
38 nephronophthisis 12 11.3
39 spinocerebellar ataxia 36 11.3
40 joubert syndrome 13 11.3
41 meckel syndrome, type 10 11.3
42 joubert syndrome 17 11.3
43 joubert syndrome 18 11.3
44 nephronophthisis 14 11.3
45 joubert syndrome 20 11.3
46 joubert syndrome 22 11.3
47 joubert syndrome 23 11.3
48 joubert syndrome 26 11.3
49 joubert syndrome 27 11.3
50 joubert syndrome 28 11.3

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 APTX ATM PNKP SETX XRCC1
2 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 8.96 ATM PNKP

MGI Mouse Phenotypes related to Oculomotor Apraxia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 AHI1 APTX ATM NPHP1 PIK3R5 PNKP
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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 Vitamins Phase 3
4 Trace Elements Phase 3
5 Nutrients Phase 3
6 Lecithin Phase 3
7 Micronutrients Phase 3
8 Complement System Proteins Phase 3
9 Ubiquinone 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
2 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678

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, Brain, Testes, Bone Marrow, Heart, Kidney
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Publications for Oculomotor Apraxia

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Articles related to Oculomotor Apraxia:

(show top 50) (show all 375)
# Title Authors PMID Year
1
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report. 61
32000717 2020
2
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. 61
31577543 2020
3
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
4
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. 61
32004679 2020
5
Clinical Presentation of Ataxia-Telangiectasia. 61
31823618 2019
6
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). 61
30423442 2019
7
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations. 61
31436889 2019
8
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay. 61
31707899 2019
9
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene. 61
31777525 2019
10
A Preventable Ataxia: Cerebrotendinous Xanthomatosis. 61
31736580 2019
11
Teaching Video NeuroImages: Characteristic head jerks in congenital oculomotor apraxia due to Joubert syndrome. 61
31501314 2019
12
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. 61
31763177 2019
13
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. 61
30956058 2019
14
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families. 61
31061747 2019
15
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). 61
30778901 2019
16
Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. 61
30642639 2019
17
Gaucher disease type 3c: New patients with unique presentations and review of the literature. 61
31130326 2019
18
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report. 61
31182894 2019
19
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells. 61
30986824 2019
20
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. 61
30905400 2019
21
A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil. 61
30389370 2019
22
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. 61
30301590 2019
23
[Diagnostic algorithm for autosomal recessive ataxia]. 61
31626222 2019
24
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature. 61
31656689 2019
25
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
26
A new MRI marker of ataxia with oculomotor apraxia. 61
30599859 2019
27
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. 61
30584599 2018
28
[Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies]. 61
30525879 2018
29
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. 61
30055837 2018
30
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. 61
30039206 2018
31
Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the SETX gene in a Saudi patient. 61
30560021 2018
32
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. 61
30198223 2018
33
Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease. 61
29680308 2018
34
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. 61
29436738 2018
35
Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma. 61
29498415 2018
36
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. 61
29881806 2018
37
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. 61
29482223 2018
38
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. 61
29356829 2018
39
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia. 61
29243230 2018
40
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. 61
29212862 2018
41
Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations. 61
29416069 2018
42
[Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing]. 61
29652299 2018
43
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration. 61
29916023 2018
44
Aortic calcification in Gaucher disease: a case report. 61
30410382 2018
45
Asymmetric oculomotor apraxia, optic ataxia, and simultanagnosia with right hemispatial neglect from a predominantly left-sided lesion of the parieto-occipital area. 61
29199507 2018
46
More than ataxia - Movement disorders in ataxia-telangiectasia. 61
29249681 2018
47
Joubert Syndrome with Orofacial Digital Features. 61
29456362 2018
48
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 61
28652255 2017
49
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. 61
29127364 2017
50
Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration. 61
27771483 2017
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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 GRCh37 Pos GRCh38 Pos
1 ATM NM_000051.3(ATM):c.689del (p.Asn230fs)deletion Pathogenic 374194 rs1057518965 11:108115539-108115539 11:108244812-108244812
2 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His)SNV Pathogenic 375374 rs1057519436 3:47888040-47888040 3:47846550-47846550
3 CSPP1 NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly)SNV Conflicting interpretations of pathogenicity 510229 rs201629827 8:68102960-68102960 8:67190725-67190725
4 AHI1 NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)SNV Conflicting interpretations of pathogenicity 260843 rs755688765 6:135752420-135752420 6:135431282-135431282
5 TGM6 NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)SNV Uncertain significance 523569 rs766248910 20:2375166-2375166 20:2394520-2394520
6 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser)SNV Uncertain significance 599009 rs140073033 15:28474681-28474681 15:28229535-28229535
7 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln)SNV Uncertain significance 599010 rs765668209 19:38943526-38943526 19:38452886-38452886
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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 Damage 4
11.4 XRCC1 PNKP ATM APTX
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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 nucleolus GO:0005730 9.02 XRCC1 SETX PNKP ATM APTX

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.55 XRCC1 SETX PNKP ATM APTX
2 positive regulation of telomere maintenance via telomerase GO:0032212 9.32 PNKP ATM
3 single strand break repair GO:0000012 9.26 XRCC1 APTX
4 DNA repair GO:0006281 9.02 XRCC1 SETX PNKP ATM APTX
5 negative regulation of protein ADP-ribosylation GO:0010836 8.96 XRCC1 PNKP

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

# Name GO ID Score Top Affiliating Genes
1 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
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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