MCID: APR001
MIFTS: 52

Apraxia malady

Summaries for Apraxia

Sources:
8Disease Ontology, 44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 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.

MalaCards: Apraxia, also known as apraxias, is related to ideomotor apraxia and aphasia. An important gene associated with Apraxia is APTX (aprataxin), and among its related pathways are Wnt / Hedgehog / Notch and Neuroscience. The compounds pemoline and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and cortex, and related mouse phenotypes are taste/olfaction and endocrine/exocrine gland.

Disease Ontology:8 An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.

Wikipedia:64 Apraxia (from Greek praxis, an act, work, or deed) is the inability to execute learned purposeful... more...

Aliases & Classifications for Apraxia

Sources:
43NIH Rare Diseases, 8Disease Ontology, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 25ICD10
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Related Diseases for Apraxia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Apraxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1ideomotor apraxia31.2COPS2, CBS
2aphasia31.0MAPT, CBS
3gait apraxia30.8MECP2, CDKL5, CDR2, SLC25A20
4progressive supranuclear palsy30.5SLC6A3, MAPT
5spinocerebellar ataxia autosomal recessive 130.4MORF4
6parkinson's disease30.4MAPT, SLC6A3
7alzheimer's disease30.3HTT, PSEN1, MAPT, CBS, TTPA, SLC6A3
8ataxia telangiectasia30.2APTX, ATM, AFP, SETX
9huntington's disease30.0HTT
10brain disease30.0CDKL5, MAPT, MECP2, PSEN1
11pick's disease30.0MAPT, PSEN1, HTT
12amyotrophic lateral sclerosis30.0HTT, PSEN1, MAPT, SLC6A3, SETX
13ataxia with vitamin e deficiency29.7SETX, FXN, TTPA, APTX
14friedreich ataxia29.7APTX, TTPA, FXN, SETX
15frontotemporal dementia29.7MAPT, PSEN1
16spinocerebellar ataxia29.7HTT, MAPT, TTPA, FXN
17vascular dementia29.7MAPT, PSEN1
18ataxia10.8
19early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.6
20corticobasal degeneration10.6
21agnosia10.4
22blepharospasm10.4
23speech disorder10.3
24oculomotor apraxia cogan type10.3
25ocular motor apraxia, cogan type10.3
26developmental coordination disorder10.3
27primary progressive aphasia10.3
28n syndrome10.2
29rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked10.2
30childhood apraxia of speech10.2
31rolandic epilepsy, mental retardation, and speech dyspraxia10.2
32ataxia with oculomotor apraxia type 110.1
33char syndrome10.1
34anterior cerebral artery infarction10.1
35mutism10.1
36ataxia with oculomotor apraxia type 210.1
37logopenic progressive aphasia10.1
38mental retardation10.1
39normal pressure hydrocephalus10.0
40lateral sclerosis10.0
41nephronophthisis10.0
42articulation disorder10.0
43joubert syndrome10.0
44dysgraphia10.0
45visual agnosia10.0
46wieacker syndrome10.0
47brain injury10.0
48dementia - subcortical10.0
49developmental dyspraxia10.0
50oculomotor apraxia, congenital, cogan-type10.0

Graphical network of the top 20 diseases related to Apraxia:



Diseases related to apraxia

Clinical Features for Apraxia

Drugs & Therapeutics for Apraxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Apraxia

Drug clinical trials:

Search ClinicalTrials for Apraxia

Search NIH Clinical Center for Apraxia

Search CenterWatch for Apraxia

Genetic Tests for Apraxia

Anatomical Context for Apraxia

Sources:
33MalaCards
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MalaCards organs/tissues related to Apraxia:

33
Whole blood, Brain, Cortex, Spinal cord, Parietal lobe, Occipital lobe, Subthalamic nucleus

Animal Models for Apraxia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Apraxia

Sources:
51PubMed
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Articles related to Apraxia:

(show top 50)    (show all 587)
idTitleAuthorsYear
1
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? (24013853)
2014
2
Limb apraxia in acute ischemic stroke: A neglected clinical challenge? (23286466)
2014
3
Orofacial apraxia in motor neuron disease. (23569452)
2013
4
Apraxia: neural mechanisms and functional recovery. (23312653)
2013
5
Frontal-executive constructional apraxia: When delayed recall is better than copying. (23581561)
2013
6
Left leg apraxia after anterior cerebral artery territory infarction: functional analysis using single-photon emission computed tomography. (23428982)
2013
7
Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene. (23956581)
2013
8
Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome. (22510527)
2012
9
Autosomal recessive cerebellar ataxias with oculomotor apraxia. (21827898)
2012
10
Blepharospasm and apraxia of eyelid opening associated with anti-Hu paraneoplastic antibodies: a case report. (22264884)
2012
11
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease. (23183622)
2012
12
The importance of production frequency in therapy for childhood apraxia of speech. (21330650)
2011
13
Lexical and phonological development in children with childhood apraxia of speech--a commentary on Stoel-Gammon's 'Relationships between lexical and phonological development in young children'. (20950498)
2011
14
Impaired ideomotor limb apraxia in cortical and subcortical dementia: a comparison of Alzheimer's and Huntington's disease. (21212634)
2011
15
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. (21324166)
2011
16
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. (21486904)
2011
17
MRI with fibre tracking in Cogan congenital oculomotor apraxia. (20449733)
2010
18
Apraxia in progressive nonfluent aphasia. (19908082)
2010
19
Evaluation of a combined treatment approach for childhood apraxia of speech. (20345262)
2010
20
Validation of a Danish translation of an occupational therapy guideline for interventions in apraxia: A pilot study. (19145535)
2009
21
Grasping tools: effects of task and apraxia. (18977235)
2009
22
Childhood speech apraxia in focus: theoretical perspectives and present tendencies. (19360263)
2009
23
Update on apraxia. (18957186)
2008
24
Botulinum toxin A injections improve apraxia of eyelid opening without overt blepharospasm associated with neurodegenerative diseases. (18200601)
2008
25
Apraxia, metaphor and mirror neurons. (17604567)
2007
26
What is the role of motor simulation in action and object recognition? Evidence from apraxia. (18161497)
2007
27
Measuring articulatory error consistency in children with developmental apraxia of speech. (15702827)
2005
28
Token-to-token variability in developmental apraxia of speech: three longitudinal case studies. (15086134)
2004
29
Apraxia. (15509449)
2004
30
Defective pantomime of object use in left brain damage: apraxia or asymbolia? (12887981)
2003
31
Limb-kinetic apraxia in corticobasal degeneration: clinical and kinematic features. (12518300)
2003
32
The dependence of ipsilesional aiming deficits on task demands, lesioned hemisphere, and apraxia. (12887988)
2003
33
Dystypia: isolated typing impairment without aphasia, apraxia or visuospatial impairment. (11914550)
2002
34
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. (12196655)
2002
35
Apraxia of eyelid closure in Huntington's disease. (12075860)
2002
36
Does the presence of ideomotor apraxia affect the prognosis of functional recovery in a woman who has had a stroke? (12211238)
2002
37
Cortical and subcortical contributions to ideomotor apraxia: analysis of task demands and error types. (11701604)
2001
38
Developmental apraxia arising from neonatal brachial plexus palsy. (11222818)
2001
39
Limb apraxia: cortical or subcortical. (11373145)
2001
40
Prolonged orbicularis oculi activity: a major factor in apraxia of lid opening. (11571326)
2001
41
Coarticulation within and between syllables by children with developmental apraxia of speech. (21269115)
2001
42
Limb apraxia. (11149703)
2000
43
'Pure' constructional apraxia - a cognitive analysis of a single case. (11568401)
1998
44
Asymmetric changes in somatosensory evoked potentials correlate with limb apraxia in corticobasal degeneration. (9669476)
1998
45
Congenital oculomotor apraxia and partial deficiency of pyruvate carboxylase]. (9575131)
1997
46
Primary progressive apraxia in Pick's disease: a clinicopathologic study. (8757022)
1996
47
Focal cortical hypoperfusion in corticobasal degeneration demonstrated by three-dimensional surface display with 123I-IMP: a possible cause of apraxia. (8748895)
1995
48
Apraxia of lid opening in blepharospasm. (2381654)
1990
49
Intracranial calcification in hyperparathyroidism associated with gait apraxia and parkinsonism. (7191528)
1980
50
Aphasia, apraxia, and agnosia; a new classification. (21017997)
1946

Genetic Variations for Apraxia

Expression for genes affiliated with Apraxia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Apraxia

Search GEO for disease gene expression data for Apraxia.

Pathways for genes affiliated with Apraxia

Sources:
4Cell Signaling Technology
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Pathways related to Apraxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3AFP, PSEN1, FOXP2
210.2MAPT, MECP2, PSEN1, HTT

Compounds for genes affiliated with Apraxia

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Apraxia according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1pemoline4510.7NPHP1, SLC6A3
2alpha tocopherol4510.6SETX, FXN, TTPA, APTX
3coq104510.6APTX, HTT
4spec-t4510.6PSEN1, AFP, MAPT, SLC6A3
5vitamin-e4510.6SETX, FXN, TTPA, CBS, APTX
6vitamin b124510.6PSEN1, AFP, MAPT, CBS
7bleomycin45 1111.5AFP, ATM
8valproate4510.5SLC6A3, MAPT, MECP2
9folate4510.5PSEN1, MECP2, AFP, MAPT, CBS
10valine4510.5PSEN1, AFP, MAPT, SLC6A3
11nmda45 2911.4SLC6A3, CBS, MAPT, PSEN1, HTT
12glycogen45 2411.4HTT, FOXP2, PSEN1, AFP, MAPT
13methionine4510.4PSEN1, MECP2, MAPT, CBS
14iron45 2411.4HTT, ATM, AFP, CBS, FXN
15kainate45 2911.4MAPT, PSEN1, HTT
16creatinine4510.4HTT, AFP, MAPT, SLC25A20, SLC6A3
17arginine4510.4PSEN1, MECP2, MAPT, CBS, TTPA, SLC25A20
18glutamine4510.4HTT, FOXP2, PSEN1, ATM, AFP, MAPT
19zinc45 2411.3APTX, MECP2, ATM, AFP, MAPT, CBS
20glucose4510.3HTT, PSEN1, AFP, MAPT, CBS, FXN
21alanine4510.3HTT, FOXP2, PSEN1, MECP2, AFP, MAPT
22oxygen45 2411.3HTT, FOXP2, PSEN1, ATM, AFP, CBS
23s-adenosylmethionine45 11 2412.3SLC25A20, CBS, PSEN1
24h2o24510.3PSEN1, AFP, MAPT, CBS, SLC6A3
25glutamate4510.3HTT, FOXP2, PSEN1, MECP2, AFP, MAPT
26lipid4510.3HTT, PSEN1, ATM, AFP, CBS, TTPA
27cysteine4510.2HTT, PSEN1, MAPT, CBS, FXN, SLC6A3
28cholesterol45 29 11 2413.2HTT, PSEN1, AFP, CBS, TTPA
29oligonucleotide4510.0HTT, PSEN1, MECP2, AFP, CBS
30cystathionine4510.0CBS, HTT
31serine4510.0HTT, PSEN1, ATM, AFP, MAPT, CBS

GO Terms for genes affiliated with Apraxia

Sources:
16Gene Ontology
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Cellular components related to Apraxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:03042410.2SLC6A3, MAPT, PSEN1, HTT

Biological processes related to Apraxia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1proprioceptionGO:01923010.5FXN, MECP2
2positive regulation of axon extensionGO:04577310.5FXN, CDKL5, MAPT
3neuron apoptotic processGO:05140210.4HTT, PSEN1, ATM
4double-strand break repairGO:00630210.4SETX, ATM, APTX
5post-embryonic developmentGO:00979110.3FOXP2, PSEN1, MECP2
6axon cargo transportGO:00808810.3MAPT, HTT
7neuron migrationGO:00176410.3CDKL5, MAPT, PSEN1
8response to iron ionGO:01003910.2SLC6A3, FXN
9negative regulation of neuron apoptotic processGO:04352410.0HTT, PSEN1, MECP2

Molecular functions related to Apraxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:0474859.9SLC6A3, ATM, MECP2, APTX
2protein bindingGO:0055159.6HTT, APTX, NPHP1, PSEN1, MECP2, ATM

Products for genes affiliated with Apraxia

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Sources for Apraxia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet