Summaries for Apraxia

Sources:
6Disease Ontology, 31NINDS, 44Wikipedia, 22MalaCards
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NINDS: 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.31

MalaCards: Apraxia, also known as dyspraxia, is related to early-onset ataxia with oculomotor apraxia and hypoalbuminemia and oculomotor apraxia. An important gene associated with Apraxia is APTX (aprataxin), and among its related pathways are DNA damage_NHEJ mechanisms of DSBs repair and DNA Damage. The compounds pemoline and spec-t have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and parietal lobe, and related mouse phenotypes are cellular and nervous system.

Disease Ontology: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.6

Wikipedia: Apraxia (from the Greek root word praxis, for an act, work, or deed, preceded by an privative a, meaning...44 more...

Aliases & Descriptions for Apraxia

Sources:
6Disease Ontology, 30NIH Rare Diseases, 31NINDS, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 24MeSH
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Aliases & Descriptions:

apraxia 6 30 31 8
dyspraxia 30 31
apraxias 32 43
apraxia (context-dependent category) 6
dyspraxia (finding) 6
dyspraxia syndrome 6
apraxia (finding) 6
verbal apraxia 30

Related Diseases for Apraxia

Sources:
13GeneCards, 14GeneDecks
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Diseases related to apraxia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1early-onset ataxia with oculomotor apraxia and hypoalbuminemia34.2APTX, HTT, SLC6A3
2oculomotor apraxia32.7KIF7, PC, SETX, PARP1, XRCC1, XRCC4
3ideomotor apraxia32.7NAGLU, IKBKAP
4spinocerebellar ataxia autosomal recessive 132.5SETX, AFP
5ataxia-ocular apraxia32.2SETX, FHIT, APTX, PNKP, AFP
6gait apraxia31.4CDR2, SLC25A20
7ataxia telangiectasia29.6SETX, PARP1, XRCC1, ATM, MRE11A, APTX
8ataxia28.1KIF7, SETX, LIG3, PARP1, XRCC1, XRCC4
9aphasia27.3BRAP, GRN, MAPT, CBS, COPS2
10nephronophthisis26.8CEP290, ARL13B, INPP5E, CC2D2A, TMEM216, TMEM67
11cerebellar ataxia26.5KIF7, SETX, SACS, ATCAY, ATM, FXN
12myoclonic cerebellar dyssynergia13.7SETX, APTX
13coach syndrome13.7CC2D2A, TMEM67, RPGRIP1L
14congenital hepatic fibrosis13.6CC2D2A, TMEM67, RPGRIP1L
15multicystic renal dysplasia, bilateral13.6CEP290, TMEM216, TMEM67
16ataxia with isolated vitamin e deficiency13.6SETX, FXN, APTX, TTPA
17cep290-related bardet-biedl syndrome13.5CEP290, TMEM67
18coloboma13.5CEP290, CC2D2A, TMEM67, RPGRIP1L, NPHP1
19nephronophthisis 413.4NPHP1, NPHP4
20familial juvenile hyperuricemic nephropathy13.4OFD1, NPHP1, NPHP4
21parkinsonian disorders13.4MAPT, SLC6A3
22joubert syndrome and related disorders13.4CEP290, CC2D2A, TMEM67, RPGRIP1L, AHI1, NPHP1
23bladder cancer susceptibility13.4PARP1, XRCC1, XRCC4
24pigmentary retinopathy13.4KIF7, CEP290, TMEM67, TTC21B
25memory impairment13.4GRN, MAPT, PSEN1, SLC6A3
26nephronopthisis13.3NPHP1, NPHP3, NPHP4
27cystic kidney13.3NPHP1, NPHP3, NPHP4
28primary progressive aphasia13.3GRN, MAPT
29nephronophthisis 113.3AHI1, NPHP1, NPHP3, NPHP4
30acute lymphoblastic leukemia, childhood13.3PARP1, XRCC1, ATM, FHIT
31fundus dystrophy13.3CEP290, ARL13B, INPP5E, CC2D2A, TMEM67, RPGRIP1L
32encephalocele13.3CEP290, CC2D2A, TMEM216, TMEM67, RPGRIP1L, TCTN2
33encephaloceles13.3CEP290, CC2D2A, TMEM216, TMEM67, RPGRIP1L, TCTN2
34meckel syndrome13.3CEP290, CC2D2A, TMEM216, TMEM67, RPGRIP1L, TCTN2
35tremor13.2SETX, ATCAY, RPGRIP1L, POLG, SLC6A3
36olivopontocerebellar atrophy13.2FXN, MAPT, HTT, TTPA, POLG
37dyslexia13.2ZNF280D, PARP1, FOXP2, SLC6A3
38xeroderma pigmentosum13.2PARP1, XRCC1, XRCC4, ATM, MRE11A
39language disorder13.2FOXP2, MECP2
40xeroderma pigmentosum, group d13.2XRCC1, XRCC4
41leber congenital amaurosis13.1CEP290, TMEM67, RPGRIP1L, NPHP3, NPHP4
42multiple system atrophy13.1APTX, MAPT, IKBKAP, HTT, SLC6A3
43lewy body dementia13.1GRN, MAPT, IKBKAP, SLC6A3
44albinism13.0XRCC1, XRCC4, ATCAY, HTT, CBS, TTPA
45bardet-biedl syndrome13.0KIF7, CEP290, ARL13B, INPP5E, TMEM67, RPGRIP1L
46protein s deficiency13.0CEP290, FXN, INPP5E, TTPA, SLC25A20
47retinal degeneration13.0CEP290, TMEM67, RPGRIP1L, TTC21B, NPHP1, NPHP3
48tauopathy12.9NAGLU, GRN, MAPT, HTT, PSEN1
49stickler syndrome12.9PARP1, CEP290, CBS, NPHP1, NPHP4
50aicardi-goutieres syndrome12.9PC, MECP2, MAPT, PSEN1, POLG

Graphical network of the top 20 diseases related to apraxia:



Graphical network of diseases related to apraxia

Clinical Features for Apraxia

Drugs & Therapeutics for Apraxia

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Apraxia

Anatomical Context for Apraxia

Sources:
22MalaCards
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MalaCards organs/tissues related to apraxia:

22
Brain, Cortex, Parietal lobe

Phenotypes for genes affiliated with Apraxia

Sources:
25MGI
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Publications for genes affiliated with Apraxia

Sources:
35PubMed
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Articles related to apraxia:

(show all 49)
idTitleAuthorsYearAffiliating Genes
1A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. (22065524)Tassan N.A.... Bohlega S.2012PIK3R5
2Ataxia with oculomotor apraxia type1 (AOA1): novel an d recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings i n Italian patients. (21465257)Castellotti B.... Gellera C.2011APTX
3Clinical and molecular characterization of ataxia wit h oculomotor apraxia patients in Saudi Arabia. (21324166)Bohlega S.A.... Al Tassan N.A.2011MRE11A, SETX
4Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. (21486904)Yokoseki A.... Onodera O.2011APTX
5Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. (19727998)Fogel B.L.... Perlman S.2009SETX
6Short-patch single-strand break repair in ataxia oculomotor apraxia-1. (19442253)Reynolds J.J.... Caldecott K.W.2009APTX
7Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1. (19103743)Reynolds J.J.... Caldecott K.W.2009APTX
8Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. (19141356)Tazir M.... Koenig M.2009SETX
9A novel nonsense mutation in a Japanese family with a taxia with oculomotor apraxia type 2 (AOA2). (19893583)Nakamura K.... Ikeda S.2009SETX
10Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. (19744353)Bernard V.... ZA1hlke C.2009SETX
11Functional role for senataxin, defective in ataxia oc ulomotor apraxia type 2, in transcriptional regulation. (19515850)Suraweera A.... Lavin M.F.2009SETX
12Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. (18403580)D'Arrigo S.... Pantaleoni C.2008APTX
13Ataxia with oculomotor apraxia type 2: novel mutation s in six patients with juvenile age of onset and elevated serum alpha-fetoprote in. (19569000)Bernard V.... ZA1hlke C.2008SETX
14Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. (18004640)Salvatore E.... Filla A.2008SLC6A3
15Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (18202221)Yoon G.... Banwell B.2008APTX
16Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. (18546343)Paus S.... Kornblum C.2008POLG
17Identification and characterisation of a large Senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). (18663494)Arning L.... Timmann D.2008SETX
18Apraxia of speech and nonfluent aphasia: a new clinical marker for corticobasal degeneration and progressive supranuclear palsy. (18989114)Josephs K.A.... Duffy J.R.2008MAPT
19'Pseudodominant inheritance' of ataxia with ocular apraxia type 2 (AOA2). (18350359)Schols L.... Timmann D.2008SETX
20A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. (17347666)Gueven N.... Lavin M.F.2007PARP1
21A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. (17572444)Ferrarini M.... Fabrizi G.M.2007APTX
22Ovarian failure in ataxia with oculomotor apraxia type 2. (17593543)Lynch D.R.... Nagan N.2007SETX
23Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. (17562789)Suraweera A.... Lavin M.F.2007SETX
24Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. (17242337)Le Ber I.... Durr A.2007APTX
25Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation. (17720498)Nahas S.A.... Brais B.2007SETX
26Atypical presentation of ataxia-oculomotor apraxia type 1. (16700949)Shahwan A.... King M.D.2006APTX
27Autosomal recessive cerebellar ataxias with oculomotor apraxia (16518257)Le Ber I.... Durr A.2006APTX, SETX
28Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. (16636238)Criscuolo C.... Casali C.2006AFP, SETX
29New autosomal recessive cerebellar ataxias with oculomotor apraxia. (16131425)Le Ber I.... Durr A.2005APTX, SETX
30Familial cognitive impairment with ataxia with oculomotor apraxia. (15996403)Mahajnah M.... Straussberg R.2005APTX
31Very late onset in ataxia oculomotor apraxia type I. (15852392)Criscuolo C.... Filla A.2005APTX
32Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. (15276230)Hirano M.... Ueno S.2004APTX
33Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia- ocular apraxia 2. (14770181)Moreira M.-C.... Koenig M.2004AFP, SETX
34The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. (15380105)Clements P.M.... Caldecott K.W.2004XRCC4, XRCC1, APTX
35Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. (15596775)Criscuolo C.... Filla A.2004APTX
36Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies. (14506070)Le Ber I.... Duerr A.2003APTX, HTT
37Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. (12196655)Shimazaki H.... Nishizawa M.2002APTX
38Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. (11170899)Moreira M.C.... Koenig M.2001APTX
39Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. (11586299)Date H.... Tsuji S.2001APTX
40The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn- finger protein aprataxin. (11586300)Moreira M.-C.... Koenig M.2001FHIT, APTX, PNKP
41Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. (11022012)NAcmeth A.H.... Taylor A.M.2000SETX
42Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. (10839884)Betz R.... Hildebrandt F.2000NPHP1
43Congenital oculomotor apraxia and partial deficiency of pyruvate carboxylase (9575131)Vaquerizo Madrid J.... Remon Alvarez-Arenas J.1997PC
44Constructional apraxia in Alzheimer's disease correlates with neuritic neuropathology in occipital cortex. (9001734)Nielson K.A.... Cotman C.W.1996MAPT
45Ataxia-oculomotor apraxia syndrome. (7782601)Gascon G.G.... Hannan M.A.1995APTX
46Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. (7891378)Hannan M.A.... Gascon G.G.1994APTX
47Ataxia with Oculomotor Apraxia Typ e 1 (20301629)Coutinho P.... Barbot C.1993APTX
48Ataxia with Oculomotor Apraxia Ty pe 2 (20301333)Moreira M.C.... Koenig M.1993SETX
49Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. (3239952)Aicardi J.... Moe P.1988APTX

Expression for genes affiliated with Apraxia

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Apraxia

Pathways for genes affiliated with Apraxia

Sources:
41Thomson Reuters, 3Cell Signaling Technology, 10EMD Millipore, 36QIAGEN
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Pathways related to apraxia according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1DNA damage_NHEJ mechanisms of DSBs repair419.9PNKP, MRE11A, XRCC4
2DNA Damage39.8XRCC1, ATM, MRE11A, PNKP
3DNA damage NHEJ mechanisms of DSBs repair109.7PNKP, MRE11A, XRCC4
4DNA Repair Mechanisms369.1LIG3, POLG, PNKP, MRE11A, ATM, XRCC4

Compounds for genes affiliated with Apraxia

Sources:
32Novoseek , 9DrugBank, 42Tocris Bioscience, 18HMDB
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Compounds related to apraxia according to GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1pemoline32 10.5NPHP1, SLC6A3
2spec-t32 10.2AFP, SLC6A3, PSEN1, MAPT
3alpha tocopherol32 10.1TTPA, APTX, FXN, XRCC1, SETX
4methylmethanesulfonate32 10.1LIG3, PARP1, XRCC1, APTX
5polynucleotide32 10.0LIG3, XRCC1, XRCC4, APTX, PNKP
6bleomycin32 9 9 11.9AFP, PSEN1, ATM, XRCC1, LIG3
7vitamin b1232 9.7MAPT, CBS, PSEN1, AFP
8camptothecin32 42 9 9 12.7MRE11A, ATM, XRCC1, PARP1, LIG3
9folate32 9.2AFP, PSEN1, CBS, MAPT, MECP2, XRCC1
10glutamine32 9.1TTPA, PSEN1, POLG, AFP, HTT, MAPT
11methionine32 8.7PSEN1, CBS, MAPT, MECP2, FHIT, XRCC1
12arginine32 INF, SLC6A3, PSEN1, TTPA, CBS, MAPT
13zinc32 18 INFAFP, CBS, MAPT, APTX, MECP2, FXN
14valproate32 INFSLC6A3, POLG, MAPT, MECP2,
15alanine32 INFAFP, POLG, HTT, MECP2, FOXP2, XRCC4
16lactate32 INFAFP, POLG, HTT, MAPT, FHIT, ATM
17n acetylcysteine32 INFMAPT, FHIT, ATM,
18oxygen32 18 INFAFP, POLG, PSEN1, TTPA, PNKP, CBS
19vitamin-e32 INFTTPA, CBS, APTX, FXN, , SETX
20h2o232 INFSLC6A3, PSEN1, CBS, MAPT, XRCC1, PARP1

GO Terms for genes affiliated with Apraxia

Sources:
12Gene Ontology
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Cellular components related to apraxia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cilium axonemeGO:0350859.8NPHP1, TTC21B, RPGRIP1L, MAPT, INPP5E
2TCTN-B9D complexGO:0360389.8TCTN2, TCTN1, AHI1, TMEM67, TMEM216, CC2D2A
3microtubule basal bodyGO:0059329.1CEP290, NPHP4, TCTN2, TCTN1, AHI1, RPGRIP1L
4ciliumGO:0059298.4NPHP4, NPHP3, AHI1, RPGRIP1L, OFD1, TMEM138
5centrosomeGO:005813INFNPHP4, PSEN1, AHI1, RPGRIP1L, OFD1, TMEM67
6primary ciliumGO:072372INF, AHI1, NPHP3

Biological processes related to apraxia according to GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell outer segment organizationGO:03584510.3AHI1, NPHP1
2double-strand break repairGO:00630210.0APTX, MRE11A, ATM, XRCC4, SETX
3neuron apoptotic processGO:05140210.0ATM, HTT, PSEN1
4reciprocal meiotic recombinationGO:0071319.9MRE11A, ATM, LIG3
5visual behaviorGO:0076329.9NPHP1, NPHP4
6proprioceptionGO:0192309.8FXN, MECP2
7cilium morphogenesisGO:0602719.6CEP290, NPHP3, TCTN2, TCTN1, AHI1, OFD1
8DNA repairGO:0062819.4PNKP, MRE11A, ATM, XRCC4, XRCC1, PARP1
9negative regulation of neuron apoptotic processGO:0435249.2PSEN1, HTT, MECP2, XRCC4
10cell deathGO:008219INF, SLC6A3, POLG, APTX, SACS, SETX
11cilium assemblyGO:042384INFTCTN2, AHI1, RPGRIP1L, TMEM138, TMEM67, TMEM216

Molecular functions related to apraxia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:005515INF, MAPT, , HTT, CBS, TMEM67
2polynucleotide 3-phosphatase activityGO:04640310.3APTX, PNKP
3protein N-terminus bindingGO:0474859.1SLC6A3, APTX, MECP2, ATM, PARP1

Sources for Apraxia

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS