ALS
MCID: AMY001
MIFTS: 67

Amyotrophic Lateral Sclerosis (ALS) malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases categories
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Summaries for Amyotrophic Lateral Sclerosis

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Disease Ontology:8 A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.

MalaCards based summary: Amyotrophic Lateral Sclerosis, also known as motor neuron disease, bulbar, is related to lateral sclerosis and motor neuron disease. An important gene associated with Amyotrophic Lateral Sclerosis is SETX (senataxin), and among its related pathways is Amyotrophic lateral sclerosis (ALS). The drug riluzole has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and brain, and related mouse phenotype behavior/neurological.

Descriptions from OMIM:46 602433, 205100, 611895, 613435, 608030 612069, 612577, 105400 more

Aliases & Classifications for Amyotrophic Lateral Sclerosis

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Amyotrophic Lateral Sclerosis, Aliases & Descriptions:

Name: Amyotrophic Lateral Sclerosis 30 8 62
Motor Neuron Disease, Bulbar 8
 
Lou Gehrig's Disease 8
Als 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


External Ids:

Disease Ontology8 DOID:332
ICD9CM27 335.20
SNOMED-CT57 86044005
MeSH34 D000690
NCIt39 C34373

Related Diseases for Amyotrophic Lateral Sclerosis

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Diseases in the Amyotrophic Lateral Sclerosis Type 14 family:

amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis Type 8
Amyotrophic Lateral Sclerosis Type 3 Amyotrophic Lateral Sclerosis Type 1
Amyotrophic Lateral Sclerosis Type 2 Amyotrophic Lateral Sclerosis Type 4
Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 6
Amyotrophic Lateral Sclerosis Type 7 Amyotrophic Lateral Sclerosis Type 19
Amyotrophic Lateral Sclerosis Type 21 Amyotrophic Lateral Sclerosis Type 17
Amyotrophic Lateral Sclerosis Type 20 Amyotrophic Lateral Sclerosis Type 18
Amyotrophic Lateral Sclerosis Type 13 Amyotrophic Lateral Sclerosis Type 15
Amyotrophic Lateral Sclerosis Type 16 Amyotrophic Lateral Sclerosis Type 11
Amyotrophic Lateral Sclerosis Type 12 Amyotrophic Lateral Sclerosis Type 9
Amyotrophic Lateral Sclerosis Type 10 Tardbp-Related Amyotrophic Lateral Sclerosis
Sod1-Related Amyotrophic Lateral Sclerosis Vapb-Related Amyotrophic Lateral Sclerosis
Setx-Related Amyotrophic Lateral Sclerosis Ang-Related Amyotrophic Lateral Sclerosis
Fus-Related Amyotrophic Lateral Sclerosis Fig4-Related Amyotrophic Lateral Sclerosis
Optn-Related Amyotrophic Lateral Sclerosis Pfn1-Related Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 16, Juvenile Amyotrophic Lateral Sclerosis 5, Juvenile Recessive

Diseases related to Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 2927)
idRelated DiseaseScoreTop Affiliating Genes
1lateral sclerosis33.1SOD1, ALS2
2motor neuron disease31.9ALS2, NEFH, SOD1
3frontotemporal dementia31.9FUS, C9orf72, SOD1
4amyotrophic lateral sclerosis type 1431.5ALS2, NEFH, SOD1, SETX, C9orf72, FUS
5aphasia30.9C9orf72, FUS
6neuronitis11.4
7dementia11.2
8al amyloidosis10.9
9amyotrophic lateral sclerosis type 210.9
10muscular atrophy10.9
11amyotrophic lateral sclerosis type 410.9
12endotheliitis10.8
13amyotrophic lateral sclerosis-parkinsonism/dementia complex10.8
14alzheimer's disease10.7
15parkinson's disease10.7
16progressive muscular atrophy10.7
17amyotrophic lateral sclerosis type 810.7
18ftdals110.7
19neuropathy10.7
20amyotrophic lateral sclerosis type 610.7
21amyotrophic lateral sclerosis type 1710.7
22amyotrophic lateral sclerosis type 1810.7
23amyotrophic lateral sclerosis type 1110.7
24amyotrophic lateral sclerosis type 910.7
25spasticity10.7
26multiple sclerosis10.7
27spinal muscular atrophy10.7
28amyotrophic lateral sclerosis type 310.7
29amyotrophic lateral sclerosis type 710.7
30amyotrophic lateral sclerosis type 1010.7
31hyperlipidemia type 310.7
32werdnig-hoffmann disease10.6
33amyotrophic lateral sclerosis type 110.6
34amyotrophic lateral sclerosis type 1210.6
35pick's disease10.6
36amyotrophic lateral sclerosis type 510.6
37cerebritis10.6
38cervicitis10.6
39amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.6
40multifocal motor neuropathy10.6
41amyotrophic lateral sclerosis type 1910.6
42tauopathy10.6
43amyotrophic lateral sclerosis-parkinsonism/dementia complex 110.6
44dysphagia10.6
45blindness10.6
46split hand10.6
47huntington's disease10.5
48amyotrophic lateral sclerosis type 2110.5
49amyotrophic lateral sclerosis type 2010.5
50amyotrophic lateral sclerosis type 1310.5

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis:



Diseases related to amyotrophic lateral sclerosis

Symptoms for Amyotrophic Lateral Sclerosis

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Clinical features from OMIM:

602433,205100,611895,613435,608030,612069,612577,105400

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis

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Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis

Inferred drug relations via UMLS62/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Amyotrophic Lateral Sclerosis cell therapies at LifeMap Discovery.

Genetic Tests for Amyotrophic Lateral Sclerosis

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Anatomical Context for Amyotrophic Lateral Sclerosis

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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis:

32
Spinal cord, Bone, Brain, Cortex, Skin, Endothelial, Skeletal muscle, Bone marrow, Testes, Monocytes, Tongue, Eye, Salivary gland, Pituitary, Whole blood, Cerebellum, Liver, Breast, Prostate, Temporal lobe, Amygdala

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Amyotrophic Lateral Sclerosis:
id TissueAnatomical CompartmentCell Relevance
1 BoneBone MarrowBone Marrow Stromal Cells Potential therapeutic candidate
2 LimbPelvic GirdleBone Marrow Stromal Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
4 Neural TubeMotor Neural Progenitor DomainMotor Neural Progenitor Cells Potential therapeutic candidate
5 Neural TubeMotor Neural Progenitor DomainMotor Neurons Potential therapeutic candidate, affected by disease
6 BrainForebrain White MatterMyelinating Oligodendrocyte Cells Affected by disease
7 Spinal CordSpinal Cord White MatterMyelinating Oligodendrocyte Cells Affected by disease
8 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Amyotrophic Lateral Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.7TRPM7, SIGMAR1, ALS2, CARF, FAM117B, NEFH

Publications for Amyotrophic Lateral Sclerosis

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Articles related to Amyotrophic Lateral Sclerosis:

(show top 50)    (show all 1874)
idTitleAuthorsYear
1
Genetically altering organismal metabolism by leptin-deficiency benefits a mouse model of amyotrophic lateral sclerosis. (24833719)
2014
2
Depressed excitability and ion currents linked to slow exocytotic fusion pore in chromaffin cells of the SOD1G93A mouse model of amyotrophic lateral sclerosis. (25377090)
2014
3
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. (24562058)
2014
4
Limb-onset amyotrophic lateral sclerosis patients visiting orthopedist show a longer time-to-diagnosis since symptom onset. (23394455)
2013
5
Carnitine deficiency presenting with a decreased mental state in a patient with amyotrophic lateral sclerosis receiving long-term tube feeding: a case report. (24377720)
2013
6
Genetics of amyotrophic lateral sclerosis: an update. (23941283)
2013
7
PGC-1I+ is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis. (23669350)
2013
8
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
9
Characterization of Wnt/I^-catenin and BMP/Smad signaling pathways in an in vitro model of amyotrophic lateral sclerosis. (24348333)
2013
10
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. (22922411)
2012
11
TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis. (20708823)
2012
12
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. (22406228)
2012
13
Two potential biomarkers identified in mesenchymal stem cells and leukocytes of patients with sporadic amyotrophic lateral sclerosis. (22430187)
2012
14
The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients. (22993125)
2012
15
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. (22057404)
2012
16
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. (22507827)
2012
17
Motor nerve conduction study in cauda equina with high-voltage electrical stimulation in multifocal motor neuropathy and amyotrophic lateral sclerosis. (21254095)
2011
18
Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients. (21226712)
2011
19
Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: specificity, sensitivity, and a possible prognostic value. (21126161)
2011
20
Vascular endothelial growth factor attenuates neurodegenerative changes in the NSC-34 motor neuron cell line induced by cerebrospinal fluid of sporadic amyotrophic lateral sclerosis patients. (21389676)
2011
21
Appearance of phagocytic microglia adjacent to motoneurons in spinal cord tissue from a presymptomatic transgenic rat model of amyotrophic lateral sclerosis. (20648658)
2010
22
Superficial siderosis mimicking amyotrophic lateral sclerosis. (20215988)
2010
23
Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. (20385924)
2010
24
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. (19058054)
2009
25
CSF hypocretin-1 levels are normal in patients with amyotrophic lateral sclerosis. (19922146)
2009
26
Abnormal diffusion tensor in nonsymptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation. (18022844)
2008
27
Ascending neuropathology in the CNS of a mutant SOD1 mouse model of amyotrophic lateral sclerosis. (16737688)
2006
28
Histological recovery of the hepatocytes is based on the redox system upregulation in the animal models of mutant superoxide dismutase (SOD)1-linked amyotrophic lateral sclerosis. (16598672)
2006
29
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
30
Expression of an endoplasmic reticulum-resident chaperone, glucose-regulated stress protein 78, in the spinal cord of a mouse model of amyotrophic lateral sclerosis. (16231159)
2005
31
Inhibition of chaperone activity is a shared property of several Cu,Zn-superoxide dismutase mutants that cause amyotrophic lateral sclerosis. (15753080)
2005
32
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (15106121)
2004
33
Decreased galectin-1 immunoreactivity of the skin in amyotrophic lateral sclerosis. (12639727)
2003
34
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis. (12768434)
2003
35
The structure of holo and metal-deficient wild-type human Cu, Zn superoxide dismutase and its relevance to familial amyotrophic lateral sclerosis. (12729761)
2003
36
No correlation between aggregates of Cu/Zn superoxide dismutase and cell death in familial amyotrophic lateral sclerosis. (12358770)
2002
37
Amyotrophic lateral sclerosis and SOD1 gene: an overview. (11996514)
2001
38
Genetics of amyotrophic lateral sclerosis. (19714405)
2000
39
Manganese superoxide dismutase levels are elevated in a proportion of amyotrophic lateral sclerosis patient cell lines. (10873611)
2000
40
Unaltered cytochrome oxidase, glutamate dehydrogenase and glutaminase activities in platelets from patients with sporadic amyotrophic lateral sclerosis--a study of potential pathogenetic mechanisms in neurodegenerative diseases. (11458996)
2000
41
Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry. (9696308)
1998
42
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. (9131652)
1997
43
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. (10732812)
1997
44
Muscarinic, N-methyl-D-aspartate (NMDA) and benzodiazepine receptor binding sites in cortical membranes from amyotrophic lateral sclerosis patients. (8981309)
1996
45
Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis. (8899655)
1996
46
Amyotrophic lateral sclerosis associated with multiple myeloma, endocrinopathy and skin changes suggestive of a POEMS syndrome variant. (7595623)
1995
47
Neurofibrillary degeneration in amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. Immunochemical characterization of tau proteins. (7717459)
1995
48
Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis. (8105280)
1993
49
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. (8351519)
1993
50
Spinal cord neurofibrillary tangles of Guamanian amyotrophic lateral sclerosis and parkinsonism-dementia complex: an immunohistochemical study. (2161095)
1990

Variations for Amyotrophic Lateral Sclerosis

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Expression for genes affiliated with Amyotrophic Lateral Sclerosis

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Expression patterns in normal tissues for genes affiliated with Amyotrophic Lateral Sclerosis

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis

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Pathways related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)37
9.9ALS2, NEFH, SOD1

Compounds for genes affiliated with Amyotrophic Lateral Sclerosis

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis

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Cellular components related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057378.4TRAK2, NIF3L1, RAPH1, STRADB, NEFH, SOD1

Biological processes related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of Rac GTPase activityGO:03231410.2ALS2, SOD1
2cell deathGO:0082199.1SIGMAR1, ALS2, NEFH, SETX, C9orf72, FUS

Products for genes affiliated with Amyotrophic Lateral Sclerosis

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Sources for Amyotrophic Lateral Sclerosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet