MCID: MTR014
MIFTS: 53

Motor Neuron Disease malady

Neuronal diseases category

Summaries for Motor Neuron Disease

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NINDS:42 The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing.

MalaCards based summary: Motor Neuron Disease, also known as motor neuron diseases, is related to lateral sclerosis and spinal muscular atrophy. An important gene associated with Motor Neuron Disease is SOD2 (superoxide dismutase 2, mitochondrial), and among its related pathways are Oxidative Stress and superoxide radicals degradation. The compounds mntmpyp and pyrogallol have been mentioned in the context of this disorder. Affiliated tissues include the motor neurones, spinal cord and brain, and related mouse phenotypes are hearing/vestibular/ear and adipose tissue.

Disease Ontology:9 A neurodegenerative disease that is located in the motor neurones.

Wikipedia:63 A motor neuron disease (MND) is any of five neurological disorders that selectively affect motor... more...

Aliases & Classifications for Motor Neuron Disease

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Motor Neuron Disease, Aliases & Descriptions:

Name: Motor Neuron Disease 30 9 11 43 60
 
Motor Neuron Diseases 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


External Ids:

Disease Ontology9 DOID:231
MeSH33 D016472
ICD9CM27 335.2
ICD1025 G12.2

Related Diseases for Motor Neuron Disease

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Diseases related to Motor Neuron Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1lateral sclerosis31.8TARDBP
2spinal muscular atrophy31.1SMN1, SMN2
3progressive muscular atrophy31.1SMN1
4neuropathy31.0SMN1, SMN2, NEFH, SOD2
5muscular atrophy30.8NAIP, SMN2, SMN1
6semantic dementia30.7RPS27A
7supranuclear palsy, progressive30.3TARDBP
8dementia, frontotemporal30.3TARDBP, RPS27A, SOD1
9pick disease29.8TARDBP, RPS27A
10amyotrophic lateral sclerosis 128.9SMN1, SMN2, SOD2, SOD1, NAIP, TARDBP
11neuronitis11.4
12dementia10.9
13madras motor neuron disease10.6
14cervicitis10.4
15spasticity10.4
16gangliosidosis10.4
17autosomal recessive lower motor neuron disease with childhood onset10.4
18ataxia10.3
19huntington disease10.3CNTF
20tauopathy10.3
21alcoholic liver cirrhosis10.3SOD2, SOD1
22insulin-like growth factor i10.2
23multifocal motor neuropathy10.2
24cerebritis10.2
25brown-vialetto-van laere syndrome10.2
26hyperparathyroidism10.2
27spinocerebellar degeneration10.2
28monomelic amyotrophy10.2
29autosomal recessive disease10.2SMN1, SMN2
30tay-sachs disease10.2SMN1, HEXB
31psychotic disorder10.2SOD2, CNTF
32microvascular complications of diabetes 510.2SOD2, SOD1
33breast cancer10.1
34fazio-londe disease10.1
35spinal and bulbar muscular atrophy of kennedy10.1
36hereditary spastic paraplegia10.1
37spondylosis10.1
38amyotrophic lateral sclerosis type 210.1
39ftdals110.1
40adenoma10.1
41apraxia10.1
42myopathy10.1
43myositis10.1
44paraplegia10.1
45peripheral neuropathy10.1
46polyneuropathy10.1
47spinocerebellar ataxia10.1
48infantile-onset ascending hereditary spastic paralysis10.1
49lathyrism10.1
50coronary artery disease10.1CTF1, SOD2, SOD1

Graphical network of the top 20 diseases related to Motor Neuron Disease:



Diseases related to motor neuron disease

Symptoms for Motor Neuron Disease

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Drugs & Therapeutics for Motor Neuron Disease

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Drug clinical trials:

Search ClinicalTrials for Motor Neuron Disease

Search NIH Clinical Center for Motor Neuron Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Motor Neuron Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Motor Neuron Disease:
Embryonic stem cell-derived motor neuron transplantation to treat paralysis
Embryonic/Adult Cultured Cells Related to Motor Neuron Disease:
Neuronal progenitor cells

Genetic Tests for Motor Neuron Disease

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Anatomical Context for Motor Neuron Disease

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MalaCards organs/tissues related to Motor Neuron Disease:

31
Spinal cord, Brain, Cortex, Skeletal muscle, Breast, Testes, T cells, Eye, Bone, Thyroid, Monocytes, B cells, Temporal lobe, Tongue

FMA organs/tissues related to Motor Neuron Disease:

14
The motor neurones

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Motor Neuron Disease:
id TissueAnatomical CompartmentCell Relevance
1 Neural TubeMotor Neural Progenitor DomainMotor Neural Progenitor Cells Potential therapeutic candidate
2 Neural TubeMotor Neural Progenitor DomainMotor Neurons Potential therapeutic candidate, affected by disease

Animal Models for Motor Neuron Disease or affiliated genes

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MGI Mouse Phenotypes related to Motor Neuron Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7SOD1, SOD2, SMN1, HEXB
2MP:00053758.4SOD2, HEXB, TARDBP, CTF1
3MP:00053697.8SMN1, TARDBP, CNTF, SOD1, HEXB, SOD2
4MP:00053867.1NEFH, SMN1, SOD2, SOD1, HEXB, CNTF
5MP:00053766.8HEXB, CTF1, NAIP, SOD1, TARDBP, CNTF
6MP:00053846.5SMN1, SOD2, SOD1, NAIP, HEXB, NEFH
7MP:00036316.5SMN1, CTF1, TARDBP, NEFH, HEXB, SOD2

Publications for Motor Neuron Disease

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Articles related to Motor Neuron Disease:

(show top 50)    (show all 661)
idTitleAuthorsYear
1
A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques. (25853458)
2015
2
Motor neuron disease: A large case-control study finds no association between living near power lines and risk of ALS. (25330726)
2014
3
The personal experience of partners of individuals with motor neuron disease. (22973854)
2013
4
Neurogenic and myogenic contributions to hereditary motor neuron disease. (22327341)
2012
5
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. (22740598)
2012
6
Motor neuron disease: common conformational change identified in toxic SOD1 mutants-a novel diagnostic marker for ALS? (22777249)
2012
7
Occurrence of eye movement disorders in motor neuron disease. (22117133)
2012
8
Motor neuron disease: the C9orf72 hexanucleotide repeat expansion in FTD and ALS. (22487746)
2012
9
The impact of perceived lack of support provided by health and social care services to caregivers of people with motor neuron disease. (22292844)
2012
10
Diaphragm pacing and noninvasive respiratory management of amyotrophic lateral sclerosis/motor neuron disease. (23042087)
2012
11
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. (20562407)
2011
12
Trends in death certification for multiple sclerosis, motor neuron disease, Parkinson's disease and epilepsy in English populations 1979-2006. (19946783)
2010
13
Motor neuron disease: systematic reviews of treatment for ALS and SMA. (20015852)
2010
14
Motor neuron disease: focusing the mind on ALS: updated practice parameters. (20379204)
2010
15
Survival profiles of patients with frontotemporal dementia and motor neuron disease. (19901167)
2009
16
Motor neuron disease. (19131860)
2009
17
Machado-Joseph disease presenting as motor neuron disease. (17963092)
2008
18
Therapeutic exercise for people with amyotrophic lateral sclerosis or motor neuron disease. (18425913)
2008
19
Re: Brain SPECT perfusion of frontotemporal dementia associated with motor neuron disease. (18427076)
2008
20
Gene expression analysis of frontotemporal lobar degeneration of the motor neuron disease type with ubiquitinated inclusions. (17569064)
2007
21
Elevated levels of transcripts encoding a human retroviral envelope protein (syncytin) in muscles from patients with motor neuron disease. (17453631)
2007
22
Brain spect perfusion of frontotemporal dementia associated with motor neuron disease. (17664410)
2007
23
Motor neuron disease mortality in Great Britain continues to rise: examination of mortality rates 1975 - 2004. (18033591)
2007
24
Low yield in screening patients with sporadic motor neuron disease for Kennedy disease. (17908088)
2007
25
Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population]. (16459354)
2006
26
Treatment for spasticity in amyotrophic lateral sclerosis/motor neuron disease. (16437474)
2006
27
Role of neurofilament aggregation in motor neuron disease. (17006927)
2006
28
How does current care practice influence the experience of a new diagnosis of motor neuron disease? A qualitative study of current guidelines-based practice. (16963405)
2006
29
Analysis of the glutathione S-transferase P1 gene Ile105Val polymorphism in the patients with sporadic motor neuron disease from Russia]. (15341277)
2004
30
Cytoplasmic body myopathy masquerading as motor neuron disease. (15389660)
2004
31
Riluzole slows the progression of neuromuscular dysfunction in the wobbler mouse motor neuron disease. (15306257)
2004
32
Occupational exposure to metals and solvents and the risk of motor neuron disease. A case-control study. (14557686)
2003
33
Cerebral amyloid angiopathy and motor neurone disease presenting with a progressive supranuclear palsy-like syndrome. (12621639)
2003
34
Increased expression level of the splicing variant of SIP1 in motor neuron diseases. (11943600)
2002
35
Reduced endplate currents underlie motor unit dysfunction in canine motor neuron disease. (12466447)
2002
36
Elevation of the soft palate in speech and swallowing in normal female participants and females with motor neuron disease: an innovative procedure for measuring palatal elevation. (12012616)
2002
37
Dementia with motor neuron disease. (11037194)
2000
38
Treatable lower motor neuron disease due to vitamin D deficiency and secondary hyperparathyroidism. (11465022)
2000
39
Striatonigral degeneration with motor neuron disease. (10896276)
2000
40
Motor neuron disease-inclusion dementia presenting as cortical-basal ganglionic degeneration. (10435507)
1999
41
Troyer syndrome: a combination of central brain abnormality and motor neuron disease? (10463356)
1999
42
Localization and expression of ciliary neurotrophic factor (CNTF) in postmortem sciatic nerve from patients with motor neuron disease and diabetic neuropathy. (8759781)
1996
43
Decreased synaptophysin immunoreactivity of the anterior horns in motor neuron disease. (8171961)
1994
44
Parvalbumin and calbindin D-28k in the human motor system and in motor neuron disease. (8232749)
1993
45
Kennedy's disease: genetic diagnosis of an inherited form of motor neuron disease. (8517843)
1993
46
Characterisation of the distribution of choline acetyltransferase messenger RNA in human spinal cord and its depletion in motor neurone disease. (1469422)
1992
47
Antibodies to the ganglioside GD1b in a patient with motor neuron disease and thyroid adenoma. (1953407)
1991
48
Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype. (2793417)
1989
49
Myokymia of the tongue in a case of brainstem tumour that simulated motor-neuron disease. (3185343)
1988
50
F-response frequency in motor neuron disease and cervical spondylosis. (3585384)
1987

Variations for Motor Neuron Disease

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Expression for genes affiliated with Motor Neuron Disease

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Search GEO for disease gene expression data for Motor Neuron Disease.

Pathways for genes affiliated with Motor Neuron Disease

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Pathways related to Motor Neuron Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9SOD1, SOD2
29.9SOD2, SOD1
3
Show member pathways
9.9SOD1, SOD2
4
Show member pathways
Amyotrophic lateral sclerosis (ALS)36
9.8NEFH, SOD1
5
Show member pathways
9.4SOD2, SOD1, RPS27A
68.9SOD1, NEFH, TARDBP

Compounds for genes affiliated with Motor Neuron Disease

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Compounds related to Motor Neuron Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1mntmpyp4310.3SOD2, SOD1
2pyrogallol4310.3SOD2, SOD1
3zinc superoxide4310.3SOD2, SOD1
4propyl gallate4310.3SOD1, SOD2
5dmpo4310.3SOD2, SOD1
63-nitrotyrosine4310.3SOD1, SOD2
7glutathion4310.3SOD2, SOD1
83-amino-1,2,4-triazole4310.3SOD1, SOD2
9nsc344310.3SOD1, SMN2
10onoo4310.3SOD1, SOD2
11fenton4310.3SOD2, SOD1
12antimycin a4310.3SOD1, SOD2
13dehydroascorbic acid43 1211.3SOD2, SOD1
14trolox4310.2SOD1, SOD2
158-oxo-dg4310.2SOD1, SOD2
16allopurinol43 49 1212.2SOD2, SOD1
17hydroquinone43 2411.2SOD2, SOD1
18selegiline43 1211.2SOD1, SOD2
19aclarubicin4310.2SMN1, SMN2
20tocopherol4310.2SOD1, SOD2
21selenite4310.2SOD1, SOD2
22gssg4310.2SOD2, SOD1
23phenylbutyrate4310.2SMN2, SMN1
24diethyl dithiocarbamate4310.1SOD1, SOD2
25Hydrogen peroxide2410.1SOD1, SOD2
26il 114310.1CNTF, CTF1
27nitroglycerin43 1211.0SOD1, SOD2
28ndga4310.0SOD1, SOD2
29hypoxanthine43 24 1211.9SOD1, SOD2
30diphenyleneiodonium439.9SOD1, SOD2
31formate439.9RPS27A, SOD1
32dicoumarol439.8RPS27A, SOD1, SOD2
33rotenone439.8RPS27A, SOD1, SOD2
346-hydroxydopamine439.8RPS27A, SOD1, SOD2
35ascorbic acid43 2410.8CNTF, SOD1, SOD2
364-hydroxynonenal43 2410.8RPS27A, SOD1, SOD2
37methamphetamine43 49 1211.7SOD2, RPS27A, CNTF
38guanidine hydrochloride439.7CNTF, RPS27A, SOD2
39indomethacin43 28 59 1212.6RPS27A, SOD1, SOD2
40butyrate439.4RPS27A, SOD2, SMN2, SMN1
41n acetylcysteine439.4SOD2, SOD1, RPS27A, CNTF
42acetylcholine43 49 28 24 1213.4SOD2, RPS27A, CNTF
43h2o2439.4CNTF, RPS27A, SOD1, SOD2
44alanine439.3SOD2, SOD1, RPS27A, CNTF
45actinomycin d439.2SOD2, RPS27A, CNTF
46cisplatin43 49 59 1212.1SOD2, SOD1, NAIP, RPS27A
47arginine439.1SMN1, SOD2, SOD1, RPS27A, CNTF
48tyrosine438.8SMN1, SOD2, NEFH, RPS27A, CNTF
49superoxide43 249.7TARDBP, CNTF, NEFH, SOD1, SOD2
50cysteine438.4RPS27A, NAIP, SOD1, SOD2

GO Terms for genes affiliated with Motor Neuron Disease

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Biological processes related to Motor Neuron Disease according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1response to superoxideGO:000030310.1SOD1, SOD2
2hydrogen peroxide biosynthetic processGO:005066510.1SOD1, SOD2
3removal of superoxide radicalsGO:001943010.1SOD2, SOD1
4superoxide anion generationGO:004255410.1SOD1, SOD2
5superoxide metabolic processGO:000680110.0SOD1, SOD2
6regulation of mitochondrial membrane potentialGO:005188110.0SOD2, SOD1
7response to axon injuryGO:004867810.0SOD1, SOD2
8regulation of blood pressureGO:00082179.9SOD1, SOD2
9glutathione metabolic processGO:00067499.8SOD1, SOD2
10neuron developmentGO:00486669.6CTF1, CNTF, SOD2
11locomotory behaviorGO:00076269.6SOD2, SOD1, HEXB
12response to hydrogen peroxideGO:00425429.6SOD1, SOD2
13negative regulation of neuron apoptotic processGO:00435249.2CNTF, NAIP, SOD1, SOD2
14nervous system developmentGO:00073999.1SMN2, NAIP, CTF1
15cell deathGO:00082198.6SMN2, HEXB, NEFH, TARDBP

Molecular functions related to Motor Neuron Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1superoxide dismutase activityGO:00047849.6SOD1, SOD2
2identical protein bindingGO:00428028.7TARDBP, SOD1, SOD2, SMN2

Products for genes affiliated with Motor Neuron Disease

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Sources for Motor Neuron Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet