Aliases & Classifications for Oculomotor Apraxia

MalaCards integrated aliases for Oculomotor Apraxia:

Name: Oculomotor Apraxia 59 29 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA98688

Summaries for Oculomotor Apraxia

MalaCards based summary : Oculomotor Apraxia is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and ocular motor apraxia, 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 Chks in Checkpoint Regulation and DNA Damage. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor

Wikipedia : 75 Oculomotor apraxia (OMA), is the absence or defect of controlled, voluntary, and purposeful eye... more...

Related Diseases for Oculomotor Apraxia

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

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 35.4 SETX APTX
2 ocular motor apraxia 32.9 NPHP1 DHX30 ATM APTX
3 joubert syndrome 6 32.5 NPHP1 AHI1
4 joubert syndrome 3 32.3 NPHP1 AHI1
5 ataxia-telangiectasia 31.8 MRE11 ATM APTX
6 joubert syndrome 1 31.8 NPHP1 CSPP1 CEP104 AHI1
7 aceruloplasminemia 30.9 SETX ATM APTX
8 friedreich ataxia 1 30.9 SETX APTX
9 vitamin e, familial isolated deficiency of 30.5 SETX APTX
10 hereditary ataxia 30.4 SETX ATM APTX
11 apraxia 30.2 XRCC1 SETX PNKP PIK3R5 NPHP1 CEP104
12 ataxia-oculomotor apraxia 3 13.0
13 ataxia-oculomotor apraxia 4 13.0
14 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 12.6
15 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.4
16 wieacker-wolff syndrome 12.0
17 birk-landau-perez syndrome 12.0
18 ataxia-telangiectasia-like disorder 1 11.6
19 joubert syndrome 2 11.5
20 joubert syndrome 16 11.5
21 joubert syndrome 25 11.5
22 joubert syndrome 15 11.5
23 spastic ataxia 5, autosomal recessive 11.5
24 joubert syndrome 21 11.5
25 poretti-boltshauser syndrome 11.4
26 intellectual disability-developmental delay-contractures syndrome 11.4
27 acrocallosal syndrome 11.3
28 joubert syndrome 10 11.3
29 anemia, sideroblastic, and spinocerebellar ataxia 11.3
30 joubert syndrome 4 11.3
31 joubert syndrome 5 11.3
32 joubert syndrome 7 11.3
33 joubert syndrome 9 11.3
34 joubert syndrome 8 11.3
35 nephronophthisis 12 11.3
36 spinocerebellar ataxia 36 11.3
37 joubert syndrome 13 11.3
38 meckel syndrome, type 10 11.3
39 joubert syndrome 17 11.3
40 joubert syndrome 18 11.3
41 nephronophthisis 14 11.3
42 joubert syndrome 20 11.3
43 joubert syndrome 22 11.3
44 joubert syndrome 23 11.3
45 joubert syndrome 24 11.3
46 joubert syndrome 26 11.3
47 joubert syndrome 27 11.3
48 joubert syndrome 28 11.3
49 meckel syndrome 13 11.3
50 joubert syndrome 30 11.3

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



Diseases related to Oculomotor Apraxia

Symptoms & Phenotypes for Oculomotor Apraxia

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 9.1 APTX ATM MRE11 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.28 AHI1 APTX ATM MRE11 NPHP1 PIK3R5

Drugs & Therapeutics for Oculomotor Apraxia

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 Ubiquinone Phase 3
4 Complement System Proteins Phase 3
5 Vitamins Phase 3
6 Nutrients Phase 3
7 Micronutrients Phase 3
8 Lecithin Phase 3
9 Trace Elements 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

Genetic Tests for Oculomotor Apraxia

Genetic tests related to Oculomotor Apraxia:

# Genetic test Affiliating Genes
1 Oculomotor Apraxia 29

Anatomical Context for Oculomotor Apraxia

MalaCards organs/tissues related to Oculomotor Apraxia:

41
Eye, Brain, Testes, Bone, Heart, Kidney, Bone Marrow

Publications for Oculomotor Apraxia

Articles related to Oculomotor Apraxia:

(show top 50) (show all 364)
# Title Authors PMID Year
1
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations. 38
31436889 2019
2
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families. 38
31061747 2019
3
Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. 38
30642639 2019
4
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). 38
30778901 2019
5
Gaucher disease type 3c: New patients with unique presentations and review of the literature. 38
31130326 2019
6
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report. 38
31182894 2019
7
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells. 38
30986824 2019
8
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. 38
30956058 2019
9
A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil. 38
30389370 2019
10
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. 38
30905400 2019
11
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. 38
30301590 2019
12
A new MRI marker of ataxia with oculomotor apraxia. 38
30599859 2019
13
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. 38
30584599 2018
14
[Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies]. 38
30525879 2018
15
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. 38
30055837 2018
16
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. 38
30039206 2018
17
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). 38
30423442 2018
18
Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the SETX gene in a Saudi patient. 38
30560021 2018
19
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. 38
30198223 2018
20
Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease. 38
29680308 2018
21
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. 38
29436738 2018
22
Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma. 38
29498415 2018
23
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. 38
29881806 2018
24
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. 38
29482223 2018
25
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. 38
29356829 2018
26
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia. 38
29243230 2018
27
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. 38
29212862 2018
28
Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations. 38
29416069 2018
29
[Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing]. 38
29652299 2018
30
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. 38
29916023 2018
31
Aortic calcification in Gaucher disease: a case report. 38
30410382 2018
32
More than ataxia - Movement disorders in ataxia-telangiectasia. 38
29249681 2018
33
Joubert Syndrome with Orofacial Digital Features. 38
29456362 2018
34
Asymmetric oculomotor apraxia, optic ataxia, and simultanagnosia with right hemispatial neglect from a predominantly left-sided lesion of the parieto-occipital area. 38
29199507 2018
35
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 38
28652255 2017
36
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. 38
29127364 2017
37
Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration. 38
27771483 2017
38
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. 38
28120234 2017
39
The Rev1 interacting region (RIR) motif in the scaffold protein XRCC1 mediates a low-affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA single-strand break repair. 38
28821613 2017
40
Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene. 38
28566184 2017
41
A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1. 38
28516743 2017
42
Joubert syndrome. 38
28604212 2017
43
An elusive ciliopathy: Joubert syndrome. 38
28667057 2017
44
Ataxia with oculomotor apraxia is associated with the DNA damage repair pathway. 38
28276091 2017
45
Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation. 38
28245518 2017
46
Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing. 38
28391287 2017
47
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. 38
28334855 2017
48
Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. 38
28552035 2017
49
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia. 38
28282710 2017
50
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. 38
27165045 2017

Variations for Oculomotor Apraxia

ClinVar genetic disease variations for Oculomotor Apraxia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATM NM_000051.3(ATM): c.689del (p.Asn230fs) deletion Pathogenic rs1057518965 11:108115539-108115539 11:108244812-108244812
2 DHX30 NM_138615.3(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 3:47888040-47888040 3:47846550-47846550
3 CSPP1 NM_024790.6(CSPP1): c.3281A> G (p.Glu1094Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201629827 8:68102960-68102960 8:67190725-67190725
4 AHI1 NM_001134831.2(AHI1): c.2299G> T (p.Val767Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs755688765 6:135752420-135752420 6:135431282-135431282
5 HERC2 NM_004667.5(HERC2): c.5045A> G (p.Asn1682Ser) single nucleotide variant Uncertain significance 15:28474681-28474681 15:28229535-28229535
6 RYR1 NM_000540.2(RYR1): c.1312G> C (p.Glu438Gln) single nucleotide variant Uncertain significance 19:38943526-38943526 19:38452886-38452886
7 TGM6 NM_198994.3(TGM6): c.76C> T (p.Pro26Ser) single nucleotide variant Uncertain significance rs766248910 20:2375166-2375166 20:2394520-2394520

Expression for Oculomotor Apraxia

Search GEO for disease gene expression data for Oculomotor Apraxia.

Pathways for Oculomotor Apraxia

GO Terms for Oculomotor Apraxia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.85 SETX PIK3R5 NPHP1 MRE11 DHX30 CSPP1
2 nucleolus GO:0005730 9.65 XRCC1 SETX PNKP ATM APTX
3 nuclear chromosome, telomeric region GO:0000784 9.13 XRCC1 MRE11 ATM
4 chromosome, telomeric region GO:0000781 8.8 SETX MRE11 ATM

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.63 PNKP MRE11 APTX
2 double-strand break repair via nonhomologous end joining GO:0006303 9.54 XRCC1 MRE11 ATM
3 telomere maintenance GO:0000723 9.52 MRE11 ATM
4 double-strand break repair GO:0006302 9.5 SETX MRE11 APTX
5 positive regulation of telomere maintenance via telomerase GO:0032212 9.49 PNKP ATM
6 reciprocal meiotic recombination GO:0007131 9.48 MRE11 ATM
7 DNA double-strand break processing GO:0000729 9.43 MRE11 ATM
8 DNA duplex unwinding GO:0032508 9.43 SETX MRE11 DHX30
9 cellular response to DNA damage stimulus GO:0006974 9.43 XRCC1 SETX PNKP MRE11 ATM APTX
10 single strand break repair GO:0000012 9.4 XRCC1 APTX
11 base-excision repair GO:0006284 9.21 XRCC1
12 negative regulation of protein ADP-ribosylation GO:0010836 9.16 XRCC1 PNKP
13 DNA repair GO:0006281 9.1 XRCC1 SETX PNKP MRE11 ATM APTX

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent DNA helicase activity GO:0004003 9.16 MRE11 DHX30
2 double-stranded DNA binding GO:0003690 9.13 PNKP MRE11 APTX
3 damaged DNA binding GO:0003684 8.8 XRCC1 PNKP APTX

Sources for Oculomotor Apraxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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