MCID: APR001
MIFTS: 52

Apraxia

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Apraxia

MalaCards integrated aliases for Apraxia:

Name: Apraxia 12 74 52 53 29 6 15 32
Dyspraxia 52 53
Apraxias 54 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0060135
ICD10 32 R48.2
UMLS 71 C0003635

Summaries for Apraxia

NIH Rare Diseases : 52 Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors , a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.

MalaCards based summary : Apraxia, also known as dyspraxia, is related to ocular motor apraxia and ataxia-oculomotor apraxia 3, and has symptoms including seizures, fever and dyspnea. An important gene associated with Apraxia is SIL1 (SIL1 Nucleotide Exchange Factor), and among its related pathways/superpathways are DNA Damage and Alzheimers Disease Pathway. The drugs Acetylcholine and Tolvaptan have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.

NINDS : 53 Apraxia (called "dyspraxia" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults.

Wikipedia : 74 Apraxia is a motor disorder caused by damage to the brain (specifically the posterior parietal cortex)... more...

Related Diseases for Apraxia

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

(show top 50) (show all 445)
# Related Disease Score Top Affiliating Genes
1 ocular motor apraxia 35.0 NPHP1 APTX
2 ataxia-oculomotor apraxia 3 34.8 SETX PIK3R5 APTX
3 ideomotor apraxia 34.6 MAPT GRN
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 34.6 XRCC1 SETX PNKP PIK3R5 ATM APTX
5 oculomotor apraxia 33.4 XRCC1 SETX PNKP PIK3R5 NPHP1 CSPP1
6 joubert syndrome 25 32.7 CSPP1 CEP104
7 gerstmann syndrome 32.6 MAPT APOE
8 simultanagnosia 32.6 MAPT APOE
9 joubert syndrome 1 32.5 NPHP1 CSPP1 CPLANE1 CEP104 AHI1
10 joubert syndrome 6 32.5 NPHP1 AHI1
11 joubert syndrome 21 32.5 CSPP1 CEP104
12 alzheimer disease 3 32.4 PSEN1 APOE
13 agraphia 32.4 MAPT GRN C9orf72
14 joubert syndrome 26 32.2 CSPP1 CEP104
15 joubert syndrome 10 32.1 NPHP1 AHI1
16 progressive non-fluent aphasia 32.1 PSEN1 MAPT GRN C9orf72
17 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 31.9 PSEN1 GRN APOE
18 pick disease of brain 31.7 PSEN1 MAPT GRN C9orf72 APOE
19 joubert syndrome 9 31.5 NPHP1 AHI1
20 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 31.4 MAPT GRN
21 autosomal recessive cerebellar ataxia 31.2 SETX PNKP ATM APTX
22 dysgraphia 31.1 MAPT GRN C9orf72
23 speech disorder 30.9 MAPT FOXP2 CNTNAP2
24 cogan syndrome 30.8 NPHP1 AHI1
25 anosognosia 30.8 C9orf72 APOE
26 aphasia 30.6 PSEN1 MAPT GRN FOXP2 C9orf72 APOE
27 posterior cortical atrophy 30.5 MAPT APOE
28 autosomal dominant cerebellar ataxia 30.4 SETX PNKP MAPT C9orf72 APTX
29 alexia 30.4 MAPT GRN APOE
30 binswanger's disease 30.4 MAPT APOE
31 cerebellar disease 30.4 SETX ATM APTX
32 visual agnosia 30.4 PSEN1 MAPT GRN APOE
33 vascular dementia 30.3 PSEN1 MAPT APOE
34 movement disease 30.2 SLC6A3 MAPT GRN C9orf72
35 frontotemporal dementia 30.2 PSEN1 MAPT GRN C9orf72 APOE
36 normal pressure hydrocephalus 30.1 PSEN1 MAPT C9orf72 APOE
37 nominal aphasia 30.1 MAPT GRN C9orf72 APOE
38 hydrocephalus 30.1 SLC6A3 PSEN1 MAPT C9orf72 APOE
39 akinetic mutism 30.1 SLC6A3 MAPT
40 supranuclear palsy, progressive, 1 30.0 SLC6A3 PSEN1 MAPT GRN C9orf72 APOE
41 semantic dementia 30.0 PSEN1 MAPT GRN C9orf72 APOE
42 postencephalitic parkinson disease 30.0 SLC6A3 MAPT
43 amnestic disorder 29.9 PSEN1 MAPT CNTNAP2 APOE
44 dementia 29.9 SLC6A3 PSEN1 MAPT GRN C9orf72 APOE
45 motor neuron disease 29.9 SETX MAPT GRN C9orf72 APOE
46 communicating hydrocephalus 29.9 SLC6A3 PSEN1 MAPT APOE
47 learning disability 29.8 MAPT FOXP2 CNTNAP2
48 hereditary ataxia 29.8 SIL1 SETX PNKP ATM APTX
49 stuttering 29.8 SLC6A3 FOXP2 CNTNAP2
50 essential tremor 29.8 SLC6A3 MAPT C9orf72

Graphical network of the top 20 diseases related to Apraxia:



Diseases related to Apraxia

Symptoms & Phenotypes for Apraxia

UMLS symptoms related to Apraxia:


seizures, fever, dyspnea, edema, cachexia, vertigo, abnormality of extrapyramidal motor function, headache, torticollis, clumsiness, syncope, cyanosis, icterus, signs and symptoms, signs and symptoms, digestive, other symbolic dysfunction, hot flushes, symptoms, muscle rigidity

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.77 PIK3R5
2 Decreased viability GR00221-A-2 9.77 PIK3R5
3 Decreased viability GR00221-A-3 9.77 ATM PIK3R5
4 Decreased viability GR00221-A-4 9.77 ATM PIK3R5
5 Decreased viability GR00249-S 9.77 CPLANE1 FOXP2 MAPT NPHP1 PIK3R5 PNKP
6 Decreased viability GR00342-S-1 9.77 PNKP
7 Decreased viability GR00342-S-2 9.77 PNKP
8 Decreased viability GR00342-S-3 9.77 PNKP
9 Decreased viability GR00386-A-1 9.77 APOE CEP104 CSPP1 GRN PIK3R5 SETX
10 Decreased viability GR00402-S-2 9.77 CNTNAP2 GRN MAPT NPHP1 SETX

MGI Mouse Phenotypes related to Apraxia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 AHI1 APOE APTX ATM C9orf72 CNTNAP2
2 behavior/neurological MP:0005386 10.17 AHI1 APOE ATM C9orf72 CNTNAP2 GRN
3 growth/size/body region MP:0005378 10.15 AHI1 APOE ATM C9orf72 CNTNAP2 CPLANE1
4 homeostasis/metabolism MP:0005376 10.13 AHI1 APOE APTX ATM C9orf72 CPLANE1
5 nervous system MP:0003631 10.1 AHI1 APOE ATM C9orf72 CNTNAP2 CPLANE1
6 renal/urinary system MP:0005367 9.7 AHI1 APOE CPLANE1 GRN MAPT NPHP1
7 taste/olfaction MP:0005394 9.26 APOE CNTNAP2 MAPT SLC6A3
8 vision/eye MP:0005391 9.23 AHI1 APOE APTX CPLANE1 GRN MAPT

Drugs & Therapeutics for Apraxia

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Tolvaptan Approved Phase 4 150683-30-0 216237
3 abobotulinumtoxinA Phase 4
4 Cholinergic Agents Phase 4
5 Botulinum Toxins Phase 4
6 Neurotransmitter Agents Phase 4
7 Botulinum Toxins, Type A Phase 4
8 Hormones Phase 4
9 Vasopressins Phase 4
10 Arginine Vasopressin Phase 4
11 Liver Extracts Phase 4
12
Ethanol Approved Phase 3 64-17-5 702
13
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
14 Trace Elements Phase 3
15 Vitamins Phase 3
16 Lecithin Phase 3
17 Complement System Proteins Phase 3
18 Nutrients Phase 3
19 Micronutrients Phase 3
20 Ubiquinone Phase 3
21
Bupivacaine Approved, Investigational Phase 1 2180-92-9, 38396-39-3 2474
22
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
23
Corticosterone Experimental Phase 1 50-22-6 5753
24 Fluorodeoxyglucose F18 Phase 1
25 Deoxyglucose Phase 1
26 Radiopharmaceuticals Phase 1
27 Anesthetics Phase 1
28 retinol Phase 1
29 Retinol palmitate Phase 1
30 Anesthetics, Local Phase 1
31
Calcium carbonate Approved, Investigational 471-34-1
32
tannic acid Approved 1401-55-4
33
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
34
Silver sulfadiazine Approved, Vet_approved 22199-08-2 441244
35
Rifaximin Approved, Investigational 80621-81-4 6436173 46783403
36
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
37 Calciferol
38 Tea
39 Insulin, Globin Zinc
40 Mitogens
41 insulin
42 Anti-Bacterial Agents
43 Gastrointestinal Agents
44 Anti-Infective Agents

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 A Study of the Utility of Botulinum Toxin Type A for Pain in Advanced Parkinson's Disease Double Blind Placebo Control Crossover Pilot Study Unknown status NCT02472210 Phase 4 Botulinum Toxin
2 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
3 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4 Tolvaptan;Placebo
4 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
5 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
6 Direct Current Brain Polarization for Apraxia in Corticobasal Syndrome Completed NCT00273897 Phase 2
7 A Phase 2a Randomized, Double-blind, Placebo-Controlled, Parallel-Group, Multi-center Study Investigating the Safety and Tolerability of JNJ-54861911 in Subjects With Early Alzheimer's Disease Completed NCT02260674 Phase 2 JNJ-54861911, 10 milligram (mg);JNJ-54861911, 50 mg;Placebo
8 Repetitive Transcranial Magnetic Stimulation (rTMS) to Improve Gesture Control in Schizophrenia: A Randomised, Placebo-controlled, Double-blind Crossover Trial Completed NCT03483909 Phase 1, Phase 2
9 Evaluating Anodal tDCS Preceding Aphasia Therapy Terminated NCT02249819 Phase 1, Phase 2
10 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
11 Efficacy Of Ultrasound Guided Stellate Ganglion Block To Relieve Vasospasm Following Clipping Of Cerebral Aneurysm Completed NCT02775318 Phase 1 Bupivacaine
12 ASSIST: Child Apraxia Speech Treatment Recruiting NCT03903120 Phase 1
13 Constructional Apraxia in Alzheimer's Disease (AD) and Lewy Body's Dementia (LBD) Unknown status NCT01993628
14 Etude de l'adhérence et Des Effets Des Ateliers "équilibre Siel Bleu" Sur la Marche, la Cognition, l'Autonomie et l'indépendance Des Sujets Atteints d'Une Maladie d'Alzheimer, et Sur le Fardeau de l'Aidant Principal Unknown status NCT01314638
15 Maladie d'Alzheimer et Maladies apparentées : Caractérisation Des Anomalies Cognitivo-motrices, et Des Effets Des médicaments Anti-démence et de la Vitamine D à Partir de la Mise en Place d'Une Base de données au CMRR du CHU d'Angers Unknown status NCT01315704 Drug intervention
16 Study on the Effectiveness of Action Observation Treatment (AOT) as a Rehabilitation Tool in Acute Stroke Patients and in Chronic Stroke Patients With Apraxia: a Randomized Controlled Trial Unknown status NCT02235350
17 Exploring the Impact and Feasibility of a Pathway to Sport and Long-term Participation in Young People Unknown status NCT02517333
18 Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy Unknown status NCT01046760
19 Language and Motricity in Preterm School Age Children Unknown status NCT02811029
20 Enhancing Neuromuscular Performance and Central Nervous System Plasticity Through Functional Movement-power Training to Improve Balance Strategies in Children With Developmental Coordination Disorder: A Randomised Controlled Trial Unknown status NCT02393404
21 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
22 Rehabilitation Combined With Bihemispherictranscranial Direct Current Stimulation in Subacute Ischemic Stroke to Increase Upper Limb Motor Recovery, a Randomised, Controlled, Double-blind Study Unknown status NCT01644929
23 Deep Brain Stimulation for Treatment of Severe Alzheimer's Disease: Study Protocol of a Prospective, Self-control Phase I Trial Unknown status NCT03115814
24 Study of the Effect of the Chronic Electric Stimulation of the Hypothalamus/Fornix on Memory Impairment in Alzheimer Disease. Unknown status NCT00947934
25 Functional Rehabilitation of Upper Limb Apraxia in Patients Poststroke: Randomized Clinical Trial Completed NCT02199093
26 Treatments of Acquired Apraxia of Speech Completed NCT01483807
27 Intervention on Caregivers Caring for Patients Poststroke With Upper Limb Apraxia: Randomized Clinical Trial Completed NCT02307019
28 A Novel Treatment for Aphasia and Apraxia of Speech: Measurement of Outcomes Completed NCT01979159
29 The Speech Prosody of People With Stuttering and Developmental Apraxia: the Efficacy of an Intervention Program Completed NCT01097161
30 Apraxia-specific Occupational Therapy in Patients With Multiple Sclerosis Completed NCT01507636
31 Event-Related fMRI Analysis of Patients With Ideomotor Apraxia During Transitive and Intransitive Hand Gesturing Completed NCT00063115
32 Auditory Masking Effects on Speech Fluency in Aphasia and Apraxia of Speech Completed NCT02094014
33 Randomised Controlled Trial of a Task Model Approach (CogWatch) to Tea Making Training in Stroke Apraxia and Action Disorganisation Syndrome Completed NCT04044911
34 Apraxia of Speech: A Comparison of EPG Treatment & Sound Production Treatment Completed NCT02554513
35 Effect of Intensity of Treatment on Rehabilitation of Acquired Apraxia of Speech Completed NCT02332915
36 Maladie d'Alzheimer et Troubles Locomoteurs : Caracterisation Des Anomalies Temporelles de la Marche et Etude Des Correlats Anatomo-cognitifs Completed NCT01315717
37 EEG Analysis of Ideomotor Apraxia Completed NCT00024999
38 Brain Biomarkers of Response to Treatment for Apraxia of Speech Completed NCT02046941
39 Effectiveness of High-frequency Specific Speech Therapy on Verbal Fluency Decline and/ or Verbal Apraxia in Patients With Parkinson's Disease With and Without Deep Brain Stimulation (DBS) - a Randomized Controlled Single-blinded Trial Completed NCT02935842
40 Move and Feel Good : Effects of Intensive Physical Training on Brain Plasticity, Cognition and Psychological Well-being. "Effets de l'entraînement Physique Intensif Sur la plasticité cérébrale, la Cognition et le Bien être Psychologique". Completed NCT02970825
41 Cognitive Assessment for Stroke Patients: Reproductibility and Validity Study Completed NCT01904799
42 MicroRNA Expression in Cerebrospinal Fluid From Patients Suffering Subarachnoid Hemorrhage With and Without Delayed Cerebral Ischemia Completed NCT01791257
43 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
44 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
45 MicroRNA Diagnostics in Subarachnoid Hemorrhage 2 Completed NCT02320539
46 Evaluation of Language and Sensorimotor Constraints of Very Premature Babies at the Age of 3 Years 1 / 2 Without Cerebral Palsy. Randomised Study of Stimulation Training Implicit in Children Vulnerable Completed NCT01426659
47 A Randomized Controlled Single-Blind Crossover Trial on the Effects of Serious Games and Wearable Haptic Devices in the Rehabilitation of Children With Neuromotor Impairments Completed NCT03353623
48 What Impact Does Intensive Vs. Standard Nutritional Supplementary Treatment of Undernourished Stroke Patient Have on Functional Outcome Measures on an Acute Rehabilitation Unit – a Pilot Study Completed NCT00332800 Nutritional Supplementation
49 Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls Completed NCT02345200
50 Effects of a Speech-Language Pathology Intervention on Individuals With Parkinson's Disease Completed NCT02973698

Search NIH Clinical Center for Apraxia

Genetic Tests for Apraxia

Genetic tests related to Apraxia:

# Genetic test Affiliating Genes
1 Apraxia 29

Anatomical Context for Apraxia

MalaCards organs/tissues related to Apraxia:

40
Brain, Eye, Cortex, Parietal Lobe, Testes, Tongue, Liver

Publications for Apraxia

Articles related to Apraxia:

(show top 50) (show all 4231)
# Title Authors PMID Year
1
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. 54 61
20008512 2010
2
Sen1p performs two genetically separable functions in transcription and processing of U5 small nuclear RNA in Saccharomyces cerevisiae. 54 61
19884310 2010
3
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage. 54 61
19643912 2009
4
[Molecular mechanism for spinocerebellar ataxias]. 61 54
20030201 2009
5
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. 54 61
19141356 2009
6
[Molecular mechanism for spinocerebellar ataxias]. 54 61
19227889 2009
7
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin. 61 54
18836178 2008
8
Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). 54 61
18663494 2008
9
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). 61 54
18350359 2008
10
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. 54 61
18405395 2008
11
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. 54 61
17572444 2007
12
Ovarian failure in ataxia with oculomotor apraxia type 2. 61 54
17593543 2007
13
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. 54 61
17562789 2007
14
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells. 54 61
17485165 2007
15
Aprataxin (APTX) gene mutations resembling multiple system atrophy. 54 61
17049295 2007
16
The novel Tau mutation G335S: clinical, neuropathological and molecular characterization. 54 61
17186252 2007
17
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. 61 54
17096168 2007
18
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. 54 61
17519253 2007
19
Autosomal recessive cerebellar ataxias. 54 61
17112370 2006
20
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. 54 61
16777843 2006
21
FoxP2 regulation during undirected singing in adult songbirds. 54 61
16837586 2006
22
Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. 61 54
16717225 2006
23
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. 61 54
16470794 2006
24
[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]. 61 54
16193447 2005
25
Familial cognitive impairment with ataxia with oculomotor apraxia. 61 54
15996403 2005
26
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]. 61 54
15800456 2005
27
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. 54 61
15732101 2005
28
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. 61 54
15699391 2005
29
The novel human gene aprataxin is directly involved in DNA single-strand-break repair. 61 54
15719174 2005
30
Ataxia-telangiectasia, an evolving phenotype. 54 61
15279807 2004
31
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. 61 54
14770181 2004
32
Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia. 61 54
12599277 2003
33
Human brain connectivity: Clinical applications for clinical neurophysiology. 61
32417703 2020
34
18F-FDG PET/CT in Sporadic Creutzfeldt-Jakob Disease. 61
32433176 2020
35
Corrigendum to "Prosodic and phonetic subtypes of primary progressive apraxia of speech" [Brain Lang. 184 (2018) 54-65]. 61
32248963 2020
36
[A Study of Pronunciation Errors in the Reading of Kanji Words in Cases with Pure Apraxia of Speech]. 61
32507762 2020
37
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair. 61
32504494 2020
38
Preserved performance monitoring and error detection in left hemisphere stroke. 61
32570207 2020
39
Predictors of Arm Nonuse in Chronic Stroke: A Preliminary Investigation. 61
32476616 2020
40
[Classification and Diagnosis of Primary Progressive Aphasia]. 61
32507759 2020
41
Double nerve transfer for restoring external rotation of the glenohumeral joint after neonatal brachial plexus injury. 61
32525250 2020
42
Corticobasal degeneration with deep white matter lesion diagnosed by brain biopsy. 61
31925842 2020
43
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
44
Mapping typical and hypokinetic dysarthric speech production network using a connected speech paradigm in functional MRI. 61
32521476 2020
45
The Applicability of the Clinical Features of English Childhood Apraxia of Speech to Cantonese: A Modified Delphi Survey. 61
32097033 2020
46
Motor recovery of hemiparetic leg by improvement of limb-kinetic apraxia in a chronic patient with traumatic brain injury: A case report. 61
32384499 2020
47
Treating limb apraxia via action semantics: a preliminary study. 61
32429797 2020
48
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. 61
31949314 2020
49
INTERACTION BETWEEN RECOVERY OF MOTOR AND LANGUAGE ABILITIES AFTER STROKE. 61
32417441 2020
50
CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm. 61
32424513 2020

Variations for Apraxia

ClinVar genetic disease variations for Apraxia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIL1 NC_000005.10:g.139189727_139201554deldeletion Pathogenic 812923 5:138525416-138537243

Expression for Apraxia

Search GEO for disease gene expression data for Apraxia.

Pathways for Apraxia

Pathways related to Apraxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.73 XRCC1 PNKP ATM APTX
2 10.45 PSEN1 MAPT APOE

GO Terms for Apraxia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.25 SLC6A3 SIL1 SETX PSEN1 PIK3R5 NPHP1
2 dendrite GO:0030425 9.77 PSEN1 MAPT CNTNAP2 C9orf72 APOE
3 neuronal cell body GO:0043025 9.72 SLC6A3 PSEN1 MAPT CNTNAP2 APOE
4 growth cone GO:0030426 9.46 SETX PSEN1 MAPT C9orf72
5 axolemma GO:0030673 9.43 MAPT CNTNAP2
6 axon GO:0030424 9.43 SLC6A3 SETX PSEN1 MAPT CNTNAP2 C9orf72
7 cell projection GO:0042995 9.28 SETX PSEN1 NPHP1 MAPT CPLANE1 CNTNAP2
8 main axon GO:0044304 9.26 MAPT C9orf72

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.77 XRCC1 SETX PNKP ATM APTX
2 cerebral cortex development GO:0021987 9.67 PSEN1 FOXP2 CNTNAP2
3 regulation of autophagy GO:0010506 9.65 MAPT C9orf72 ATM
4 post-embryonic development GO:0009791 9.63 PSEN1 FOXP2 ATM
5 cerebellum development GO:0021549 9.58 PSEN1 FOXP2 CPLANE1
6 astrocyte activation GO:0048143 9.54 PSEN1 MAPT
7 single strand break repair GO:0000012 9.52 XRCC1 APTX
8 amyloid precursor protein metabolic process GO:0042982 9.51 PSEN1 APOE
9 vocal learning GO:0042297 9.43 FOXP2 CNTNAP2
10 lipoprotein catabolic process GO:0042159 9.32 ATM APOE
11 positive regulation of amyloid fibril formation GO:1905908 9.26 PSEN1 APOE
12 astrocyte activation involved in immune response GO:0002265 9.16 PSEN1 GRN
13 cellular response to DNA damage stimulus GO:0006974 9.1 XRCC1 SETX PSEN1 PNKP ATM APTX
14 negative regulation of protein ADP-ribosylation GO:0010836 8.96 XRCC1 PNKP

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 XRCC1 SLC6A3 SIL1 SETX PSEN1 PNKP
2 protein N-terminus binding GO:0047485 9.43 SLC6A3 ATM APTX
3 lipoprotein particle binding GO:0071813 9.16 MAPT APOE
4 damaged DNA binding GO:0003684 9.13 XRCC1 PNKP APTX

Sources for Apraxia

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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