MCID: APR001
MIFTS: 51

Apraxia

Categories: Eye diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Apraxia

MalaCards integrated aliases for Apraxia:

Name: Apraxia 12 73 20 53 29 6 15 32
Apraxias 54 70
Dyspraxia 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0060135
SNOMED-CT 67 68345001
ICD10 32 R48.2
UMLS 70 C0003635

Summaries for Apraxia

GARD : 20 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 apraxias, is related to spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 and ocular motor apraxia, 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 Tolvaptan and Hormones have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and parietal lobe, 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 : 73 Apraxia is a motor disorder caused by damage to the brain (specifically the posterior parietal cortex or... more...

Related Diseases for Apraxia

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

(show top 50) (show all 466)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 33.1 SETX PIK3R5 APTX
2 ocular motor apraxia 33.0 NPHP1 ATM APTX
3 ataxia-oculomotor apraxia 3 33.0 SETX PIK3R5 APTX
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.7 XRCC1 SIL1 SETX PNKP ATM APTX
5 ideomotor apraxia 32.6 MAPT GRN C9orf72 APOE
6 childhood apraxia of speech 32.4 FOXP2 CNTNAP2
7 joubert syndrome 25 32.0 CSPP1 CEP104
8 joubert syndrome 6 31.9 NPHP1 AHI1
9 oculomotor apraxia 31.8 XRCC1 SETX PNKP PIK3R5 NPHP1 CSPP1
10 simultanagnosia 31.7 PSEN1 MAPT APOE
11 joubert syndrome 21 31.6 CSPP1 CEP104
12 joubert syndrome 26 31.6 CSPP1 CEP104
13 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 31.6 PSEN1 GRN APOE
14 joubert syndrome 1 31.5 NPHP1 CSPP1 CPLANE1 CEP104 AHI1
15 joubert syndrome 10 31.5 NPHP1 AHI1
16 agraphia 31.5 MAPT GRN C9orf72 APOE
17 joubert syndrome 24 31.4 NPHP1 AHI1
18 progressive non-fluent aphasia 31.3 PSEN1 MAPT GRN C9orf72
19 gerstmann syndrome 31.3 PSEN1 MAPT GRN APOE
20 pick disease of brain 31.1 PSEN1 MAPT GRN C9orf72 APOE
21 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 31.0 MAPT GRN
22 agnosia 31.0 SIL1 FOXP2 APTX
23 aphasia 31.0 PSEN1 MAPT GRN FOXP2 C9orf72 APOE
24 dysgraphia 30.9 MAPT GRN C9orf72
25 autosomal recessive cerebellar ataxia 30.9 SETX ATM APTX
26 anosognosia 30.7 PSEN1 C9orf72 APOE
27 cogan syndrome 30.5 NPHP1 AHI1
28 mild cognitive impairment 30.4 MAPT APOE
29 hydrocephalus 30.3 SLC6A3 PSEN1 MAPT APOE
30 frontotemporal dementia 30.3 PSEN1 MAPT GRN C9orf72 APOE
31 posterior cortical atrophy 30.3 MAPT APOE
32 autosomal dominant cerebellar ataxia 30.3 SETX PNKP MAPT C9orf72 APTX
33 alexia 30.3 MAPT GRN APOE
34 visual agnosia 30.3 PSEN1 MAPT GRN APOE
35 supranuclear palsy, progressive, 1 30.2 SLC6A3 PSEN1 MAPT GRN C9orf72 APOE
36 binswanger's disease 30.2 MAPT APOE
37 normal pressure hydrocephalus 30.1 PSEN1 MAPT C9orf72 APOE
38 semantic dementia 30.1 PSEN1 MAPT GRN C9orf72 APOE
39 vascular dementia 30.1 PSEN1 MAPT APOE
40 nominal aphasia 30.1 PSEN1 MAPT GRN C9orf72 APOE
41 motor neuron disease 30.0 SETX MAPT GRN C9orf72 APOE
42 dementia 30.0 SLC6A3 PSEN1 MAPT GRN C9orf72 APOE
43 hereditary ataxia 30.0 SIL1 SETX PNKP ATM APTX
44 dyscalculia 29.9 MAPT GRN APOE
45 choreatic disease 29.9 SLC6A3 SETX CNTNAP2 C9orf72 APTX
46 amnestic disorder 29.9 PSEN1 MAPT CNTNAP2 APOE
47 senior-loken syndrome 1 29.9 NPHP1 CEP104 AHI1
48 speech disorder 29.9 SLC6A3 MAPT GRN FOXP2 CNTNAP2 C9orf72
49 dystonia 29.9 SLC6A3 SETX GRN CEP104 C9orf72 ATM
50 stuttering 29.8 SLC6A3 FOXP2 CNTNAP2

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; vertigo; cachexia; abnormality of extrapyramidal motor function; headache; torticollis; clumsiness; syncope; cyanosis; edema; 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:

46
# 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 10.28 AHI1 APOE ATM C9orf72 CNTNAP2 CSPP1
3 growth/size/body region MP:0005378 10.18 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 AHI1 APOE ATM C9orf72 CNTNAP2 CPLANE1
6 integument MP:0010771 9.91 APOE ATM C9orf72 CNTNAP2 GRN MAPT
7 vision/eye MP:0005391 9.28 AHI1 APOE APTX CPLANE1 GRN MAPT
8 taste/olfaction MP:0005394 9.26 APOE CNTNAP2 MAPT SLC6A3

Drugs & Therapeutics for Apraxia

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 4 150683-30-0 216237
2 Hormones Phase 4
3 Vasopressins Phase 4
4 Liver Extracts Phase 4
5 Arginine Vasopressin Phase 4
6
Ethanol Approved Phase 3 64-17-5 702
7
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
8
Lecithin Experimental Phase 3 8002-43-5
9 Complement System Proteins Phase 3
10 Trace Elements Phase 3
11 Nutrients Phase 3
12 Ubiquinone Phase 3
13 Micronutrients Phase 3
14 Vitamins Phase 3
15
Corticosterone Experimental Phase 1 50-22-6 5753
16 Fluorodeoxyglucose F18 Phase 1
17 Radiopharmaceuticals Phase 1
18 Deoxyglucose Phase 1
19
Silver sulfadiazine Approved, Vet_approved 22199-08-2 441244
20
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
21 Calciferol
22 Tea

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
2 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4 Tolvaptan;Placebo
3 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
4 Direct Current Brain Polarization for Apraxia in Corticobasal Syndrome Completed NCT00273897 Phase 2
5 Evaluating Anodal tDCS Preceding Aphasia Therapy Terminated NCT02249819 Phase 1, Phase 2
6 Video Assisted Speech Technology to Enhance Functional Language Abilities in Individuals With Autism Spectrum Disorder Completed NCT04764539 Phase 1
7 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
8 ASSIST: Child Apraxia Speech Treatment Recruiting NCT03903120 Phase 1
9 Exploring the Impact and Feasibility of a Pathway to Sport and Long-term Participation in Young People Unknown status NCT02517333
10 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
11 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
12 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
13 Transcranial and Rapid Magnetic Stimulation for Gait Apraxia Due to Normal Pressure Hydrocephalus and Cerebral Ischemia Unknown status NCT00494689
14 Constructional Apraxia in Alzheimer's Disease (AD) and Lewy Body's Dementia (LBD) Unknown status NCT01993628
15 Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy Unknown status NCT01046760
16 Effect of Intensity of Treatment on Rehabilitation of Acquired Apraxia of Speech Completed NCT02332915
17 Apraxia-specific Occupational Therapy in Patients With Multiple Sclerosis Completed NCT01507636
18 Functional Rehabilitation of Upper Limb Apraxia in Patients Poststroke: Randomized Clinical Trial Completed NCT02199093
19 Treatments of Acquired Apraxia of Speech Completed NCT01483807
20 Apraxia of Speech: A Comparison of EPG Treatment & Sound Production Treatment Completed NCT02554513
21 Intervention on Caregivers Caring for Patients Poststroke With Upper Limb Apraxia: Randomized Clinical Trial Completed NCT02307019
22 Maladie d'Alzheimer et Troubles Locomoteurs : Caracterisation Des Anomalies Temporelles de la Marche et Etude Des Correlats Anatomo-cognitifs Completed NCT01315717
23 Event-Related fMRI Analysis of Patients With Ideomotor Apraxia During Transitive and Intransitive Hand Gesturing Completed NCT00063115
24 EEG Analysis of Ideomotor Apraxia Completed NCT00024999
25 Comparisons of gaIt aNalyses pERformance Between the Gaitrite walkwaYs Completed NCT04557592
26 Auditory Masking Effects on Speech Fluency in Aphasia and Apraxia of Speech Completed NCT02094014
27 A Novel Treatment for Aphasia and Apraxia of Speech: Measurement of Outcomes Completed NCT01979159
28 The Speech Prosody of People With Stuttering and Developmental Apraxia: the Efficacy of an Intervention Program Completed NCT01097161
29 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
30 Brain Biomarkers of Response to Treatment for Apraxia of Speech Completed NCT02046941
31 Randomised Controlled Trial of a Task Model Approach (CogWatch) to Tea Making Training in Stroke Apraxia and Action Disorganisation Syndrome Completed NCT04044911
32 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
33 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
34 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
35 Effects of Transcranial Direct Current Stimulation in Primary Progressive Aphasia (PPA) Recruiting NCT04486586
36 Evaluating the Effects of Intensive Speech and Language Rehabilitation Regarding Neuroplasticity, Speech, Language, Communication Skills and Quality of Life for People With Acquired Aphasia and/or Apraxia of Speech in the Chronic Phase Recruiting NCT04604444
37 Gait as Predictor of Cognitive Decline, Dementia, and Risk of Falls in MCI. A Cohort Study Recruiting NCT03020381
38 The Neurobiology of Two Distinct Types of Progressive Apraxia of Speech Recruiting NCT03313011
39 Treating Childhood Apraxia of Speech: Role of Biofeedback & Practice Distribution Recruiting NCT03238677
40 Efficacy of START (Startle Rehabilitation Therapy) in the Treatment Stroke-induced Aphasia/Apraxia Recruiting NCT04816799 Early Phase 1
41 Efficacy of an Intervention for the Children With Severe Speech Sounds Disorders Recruiting NCT03700151
42 Clinico-Pathologic-Genetic-Imaging Study of Neurodegenerative and Related Disorders Recruiting NCT04680130 C-11 PiB;AV1451 Tau
43 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
44 Sensitivity of the Search for a Heterophory-Vertical-Labile (HV-Labile) for Ambulatory Screening for Specific Learning Disabilities (SLD) or Developmental Coordination Disorder (DCD). Recruiting NCT04122820
45 Therapeutischer Einsatz Der Schwachen Gleichstromstimulation (tDCS) Bei Motorisch-kognitiven Defiziten Nach Schlaganfall Recruiting NCT03185234
46 Expanded Access Protocol: Umbilical Cord Blood Infusions for Children With Brain Injuries Available NCT03327467
47 Childhood Apraxia of Speech: Neurobiological and Behavioural Markers and Experience Dependent Changes of Neural Connectivity Induced by Treatment Enrolling by invitation NCT04832503
48 Apraxia in Parkinson's Disease Patients With Deep Brain Stimulation Not yet recruiting NCT04725773
49 A Randomized Control Trial of Motor-based Intervention for Childhood Apraxia of Speech Not yet recruiting NCT04642053
50 Validation of a Standardized Tool for Evaluation Function of Patients With Temporomandibular Disturbances (DTM) by Physiotherapists Not yet recruiting NCT03871608

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, Cortex, Parietal Lobe, Eye, Tongue, Temporal Lobe, Cerebellum

Publications for Apraxia

Articles related to Apraxia:

(show top 50) (show all 3923)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. 61 54
20008512 2010
3
Sen1p performs two genetically separable functions in transcription and processing of U5 small nuclear RNA in Saccharomyces cerevisiae. 54 61
19884310 2010
4
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
5
[Molecular mechanism for spinocerebellar ataxias]. 54 61
20030201 2009
6
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. 61 54
19141356 2009
7
[Molecular mechanism for spinocerebellar ataxias]. 54 61
19227889 2009
8
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin. 54 61
18836178 2008
9
Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). 54 61
18663494 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
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). 54 61
18350359 2008
12
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. 61 54
17572444 2007
13
Ovarian failure in ataxia with oculomotor apraxia type 2. 61 54
17593543 2007
14
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. 54 61
17562789 2007
15
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells. 61 54
17485165 2007
16
The novel Tau mutation G335S: clinical, neuropathological and molecular characterization. 61 54
17186252 2007
17
Aprataxin (APTX) gene mutations resembling multiple system atrophy. 61 54
17049295 2007
18
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. 61 54
17096168 2007
19
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. 61 54
17519253 2007
20
Autosomal recessive cerebellar ataxias. 54 61
17112370 2006
21
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. 54 61
16777843 2006
22
Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. 61 54
16717225 2006
23
[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]. 54 61
16193447 2005
24
Familial cognitive impairment with ataxia with oculomotor apraxia. 54 61
15996403 2005
25
[Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia]. 54 61
15800456 2005
26
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. 54 61
15732101 2005
27
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. 54 61
15699391 2005
28
The novel human gene aprataxin is directly involved in DNA single-strand-break repair. 61 54
15719174 2005
29
Ataxia-telangiectasia, an evolving phenotype. 54 61
15279807 2004
30
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. 61 54
14770181 2004
31
The prehistory of speech and language is revealed in brain damage. 61
33745305 2021
32
Comparing global motor characteristics in children and adults with childhood apraxia of speech to a cerebellar stroke patient: evidence for the cerebellar hypothesis in a developmental motor speech disorder. 61
33327803 2021
33
Digitomotography in children with orofacial dysfunction (OFD, orofacial myofunctional disorders) and childhood apraxia of speech (CAS). 61
33797781 2021
34
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant. 61
33785884 2021
35
Some pathogenic SETX variants are partially conserved during evolution. 61
33333218 2021
36
Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings. 61
33770309 2021
37
Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia. 61
33743388 2021
38
Autism-Centered Therapy for Childhood Apraxia of Speech (ACT4CAS): A Single-Case Experimental Design Study. 61
33684309 2021
39
Feasibility of combining functional near-infrared spectroscopy with electroencephalography to identify chronic stroke responders to cerebellar transcranial direct current stimulation-a computational modeling and portable neuroimaging methodological study. 61
33675516 2021
40
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome. 61
33410256 2021
41
Effects of tDCS on Sound Duration in Patients with Apraxia of Speech in Primary Progressive Aphasia. 61
33800933 2021
42
Speech Metrics and Samples That Differentiate Between Nonfluent/Agrammatic and Logopenic Variants of Primary Progressive Aphasia. 61
33630653 2021
43
Developmental Dyspraxia in Children With Learning Disorders: Four-Year Experience in a Referred Sample. 61
33103525 2021
44
Teaching Video NeuroImages: Posterior Cortical Atrophy Presenting With Balint Syndrome. 61
32928969 2021
45
Quantitative evaluation of oculomotor disturbances in progressive supranuclear palsy. 61
33744691 2021
46
Language impairment in progressive supranuclear palsy and corticobasal syndrome. 61
31321513 2021
47
Motor Speech Disorders and Communication Limitations in Progressive Supranuclear Palsy. 61
33719524 2021
48
Stability of Speech Intelligibility Measures Over Repeated Sampling Times in Speakers With Acquired Apraxia of Speech. 61
33761278 2021
49
A Preliminary Look Into the Clinical Evolution of Motor Speech Characteristics in Primary Progressive Apraxia of Speech in Québec French. 61
33719528 2021
50
Anosognosia for limb and bucco-facial apraxia as inferred from the recognition of gestural errors. 61
32080980 2021

Variations for Apraxia

ClinVar genetic disease variations for Apraxia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIL1 NC_000005.10:g.139189727_139201554del Deletion Pathogenic 812923 GRCh37: 5:138525416-138537243
GRCh38:

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 dendrite GO:0030425 9.77 PSEN1 MAPT CNTNAP2 C9orf72 APOE
2 neuronal cell body GO:0043025 9.65 SLC6A3 PSEN1 MAPT CNTNAP2 APOE
3 growth cone GO:0030426 9.46 SETX PSEN1 MAPT C9orf72
4 axon GO:0030424 9.43 SLC6A3 SETX PSEN1 MAPT CNTNAP2 C9orf72
5 axolemma GO:0030673 9.4 MAPT CNTNAP2
6 main axon GO:0044304 9.32 MAPT C9orf72
7 cell projection GO:0042995 9.28 SETX PSEN1 NPHP1 MAPT CPLANE1 CNTNAP2

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

(show all 11)
# 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 9.61 PSEN1 FOXP2 CNTNAP2
3 regulation of autophagy GO:0010506 9.58 MAPT C9orf72 ATM
4 astrocyte activation GO:0048143 9.49 PSEN1 MAPT
5 amyloid precursor protein metabolic process GO:0042982 9.48 PSEN1 APOE
6 single strand break repair GO:0000012 9.46 XRCC1 APTX
7 lipoprotein catabolic process GO:0042159 9.32 ATM APOE
8 positive regulation of amyloid fibril formation GO:1905908 9.26 PSEN1 APOE
9 astrocyte activation involved in immune response GO:0002265 9.16 PSEN1 GRN
10 cellular response to DNA damage stimulus GO:0006974 9.1 XRCC1 SETX PSEN1 PNKP ATM APTX
11 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 10.13 XRCC1 SLC6A3 SIL1 SETX PSEN1 PNKP
2 protein N-terminus binding GO:0047485 9.43 SLC6A3 ATM APTX
3 lipoprotein particle binding GO:0071813 8.96 MAPT APOE
4 damaged DNA binding GO:0003684 8.8 XRCC1 PNKP APTX

Sources for Apraxia

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
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