PLS
MCID: LTR001
MIFTS: 54

Lateral Sclerosis (PLS) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Lateral Sclerosis

About this section
Sources:
44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. in primary lateral sclerosis only the upper motor neurons in the brain are affected. symptoms often begin with problems in the legs (e.g., weakness, stiffness, spasticity, and balance problems), but may also start with hand clumsiness and changes in speech. the symptoms worsen gradually over time, however people with this condition have a normal life expectancy. progression of symptoms varies from person to person, some people retain the ability to walk without assistance, others eventually require assistive devices such as canes or wheelchairs. diagnosis requires extensive testing to exclude other diseases. treatment may include baclofen and tizanidine to reduce spasticity, quinine or phenytoin to reduce cramps, as well as physical and speech therapy as required. last updated: 1/22/2010

MalaCards: Lateral Sclerosis, also known as primary lateral sclerosis, is related to amyotrophic lateral sclerosis and motor neuron disease. An important gene associated with Lateral Sclerosis is FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)), and among its related pathways is Amyotrophic lateral sclerosis (ALS). Affiliated tissues include spinal cord, brain and testes, and related mouse phenotype behavior/neurological.

NINDS:45 Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face.

Wikipedia:66 Amyotrophic lateral sclerosis (ALS)?also referred to as motor neurone disease (MND), Charcot disease,... more...

Description from OMIM:48 611637

Aliases & Classifications for Lateral Sclerosis

About this section
Sources:
9Disease Ontology, 11DISEASES, 63UMLS, 44NIH Rare Diseases, 45NINDS, 46Novoseek, 50Orphanet, 48OMIM, 28ICD9CM, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
primary lateral sclerosis:
Inheritance: Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

lateral sclerosis 9 11 63
primary lateral sclerosis 9 44 45 46 50 48
adult-onset primary lateral sclerosis 50
primary lateral sclerosis, adult, 1 63
papillon-lefevre disease 63
adult-onset pls 50
pls 50


External Ids:

Disease Ontology9 DOID:230
ICD9CM28 335.24
MeSH36 D016472
SNOMED-CT59 81211007
OMIM48 611637
ICD10 via Orphanet27 G12.2
SNOMED-CT via Orphanet60 81211007

Related Diseases for Lateral Sclerosis

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Juvenile Primary Lateral Sclerosis family:

lateral sclerosis Primary Lateral Sclerosis, Adult, 1

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

(show top 50)    (show all 231)
idRelated DiseaseScoreTop Affiliating Genes
1amyotrophic lateral sclerosis32.4ALS2, FUS, C9orf72, SETX, SOD1, NEFH
2motor neuron disease31.4SOD1, NEFH, ALS2
3frontotemporal dementia31.3FUS, C9orf72, SOD1
4neuropathy30.6NEFH, SETX, FIG4
5aphasia30.4FUS, C9orf72
6neuronitis11.1
7dementia10.9
8juvenile primary lateral sclerosis10.7
9muscular atrophy10.6
10amyotrophic lateral sclerosis type 210.6
11amyotrophic lateral sclerosis, type 410.5
12endotheliitis10.5
13amyotrophic lateral sclerosis-parkinsonism/dementia complex10.5
14spasticity10.5
15amyotrophic lateral sclerosis type 810.5
16amyotrophic lateral sclerosis with frontotemporal dementia10.5
17alzheimer's disease10.5
18progressive muscular atrophy10.5
19parkinson's disease10.5
20amyotrophic lateral sclerosis type 1110.4
21amyotrophic lateral sclerosis type 910.4
22multiple sclerosis10.4
23amyotrophic lateral sclerosis type 310.4
24amyotrophic lateral sclerosis type 710.4
25progressive supranuclear palsy10.4
26werdnig-hoffmann disease10.4
27spinal muscular atrophy10.4
28amyotrophic lateral sclerosis type 1010.4
29myocardial infarction10.4
30hereditary spastic paraplegia10.4
31pick's disease10.4
32cerebritis10.4
33cervicitis10.4
34paraplegia10.4
35amyotrophic lateral sclerosis type 510.4
36amyotrophic lateral sclerosis type 610.4
37amyotrophic lateral sclerosis-parkinsonism/dementia complex 110.4
38tauopathy10.3
39poliomyelitis10.3
40multifocal motor neuropathy10.3
41dysphagia10.3
42blindness10.3
43huntington's disease10.3
44muscular dystrophy10.3
45neuromuscular disease10.3
46polyneuropathy10.3
47tardbp-related amyotrophic lateral sclerosis10.3
48spastic paraparesis10.3
49sod1-related amyotrophic lateral sclerosis10.3
50hypoxia10.3

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



Diseases related to lateral sclerosis

Symptoms for Lateral Sclerosis

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

611637

Clinical features from OMIM:

611637

Drugs & Therapeutics for Lateral Sclerosis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Lateral Sclerosis

Drug clinical trials:

Search ClinicalTrials for Lateral Sclerosis

Search NIH Clinical Center for Lateral Sclerosis

Search CenterWatch for Lateral Sclerosis

Genetic Tests for Lateral Sclerosis

About this section

Anatomical Context for Lateral Sclerosis

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Lateral Sclerosis:

34
Spinal cord, Brain, Testes, Cortex, Skin, Endothelial, Skeletal muscle, Tongue, Monocytes, Eye, Pituitary, Salivary gland, Bone, Breast, Whole blood, Prostate, Bone marrow, Liver, Amygdala, Cerebellum, Temporal lobe

Animal Models for Lateral Sclerosis or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Lateral Sclerosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5TRPM7, SIGMAR1, ALS2, CARF, FIG4, FAM117B

Publications for Lateral Sclerosis

About this section
Sources:
53PubMed
See all sources

Articles related to Lateral Sclerosis:

(show top 50)    (show all 1849)
idTitleAuthorsYear
1
Limb-onset amyotrophic lateral sclerosis patients visiting orthopedist show a longer time-to-diagnosis since symptom onset. (23394455)
2013
2
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
3
Genetics of amyotrophic lateral sclerosis: an update. (23941283)
2013
4
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
5
Characterization of Wnt/I^-catenin and BMP/Smad signaling pathways in an in vitro model of amyotrophic lateral sclerosis. (24348333)
2013
6
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. (22922411)
2012
7
TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis. (20708823)
2012
8
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. (22406228)
2012
9
Two potential biomarkers identified in mesenchymal stem cells and leukocytes of patients with sporadic amyotrophic lateral sclerosis. (22430187)
2012
10
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
11
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. (22057404)
2012
12
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. (22507827)
2012
13
The split hand syndrome in amyotrophic lateral sclerosis. (22100761)
2012
14
Motor nerve conduction study in cauda equina with high-voltage electrical stimulation in multifocal motor neuropathy and amyotrophic lateral sclerosis. (21254095)
2011
15
Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients. (21226712)
2011
16
Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: specificity, sensitivity, and a possible prognostic value. (21126161)
2011
17
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
18
Appearance of phagocytic microglia adjacent to motoneurons in spinal cord tissue from a presymptomatic transgenic rat model of amyotrophic lateral sclerosis. (20648658)
2010
19
Superficial siderosis mimicking amyotrophic lateral sclerosis. (20215988)
2010
20
Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. (20385924)
2010
21
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. (19058054)
2009
22
CSF hypocretin-1 levels are normal in patients with amyotrophic lateral sclerosis. (19922146)
2009
23
Abnormal diffusion tensor in nonsymptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation. (18022844)
2008
24
Distinctions between the dementia in amyotrophic lateral sclerosis with frontotemporal dementia and the dementia of Alzheimer's disease. (17917849)
2007
25
Ascending neuropathology in the CNS of a mutant SOD1 mouse model of amyotrophic lateral sclerosis. (16737688)
2006
26
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
27
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
28
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
29
Inhibition of chaperone activity is a shared property of several Cu,Zn-superoxide dismutase mutants that cause amyotrophic lateral sclerosis. (15753080)
2005
30
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (15106121)
2004
31
17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. (15023818)
2004
32
Decreased galectin-1 immunoreactivity of the skin in amyotrophic lateral sclerosis. (12639727)
2003
33
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis. (12768434)
2003
34
The structure of holo and metal-deficient wild-type human Cu, Zn superoxide dismutase and its relevance to familial amyotrophic lateral sclerosis. (12729761)
2003
35
Dynamic properties of the G93A mutant of copper-zinc superoxide dismutase as detected by NMR spectroscopy: implications for the pathology of familial amyotrophic lateral sclerosis. (12590575)
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 Lateral Sclerosis

About this section

Expression for genes affiliated with Lateral Sclerosis

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Lateral Sclerosis

Search GEO for disease gene expression data for Lateral Sclerosis.

Pathways for genes affiliated with Lateral Sclerosis

About this section
Sources:
51PathCards, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database
See all sources

Pathways related to Lateral Sclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)39
9.9ALS2, NEFH, SOD1

Compounds for genes affiliated with Lateral Sclerosis

About this section

GO Terms for genes affiliated with Lateral Sclerosis

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1regulation of Rac GTPase activityGO:03231410.1ALS2, SOD1
2locomotory behaviorGO:0076269.7ALS2, FIG4, SOD1
3cell deathGO:0082199.1SIGMAR1, FUS, C9orf72, SETX, NEFH, FIG4

Products for genes affiliated with Lateral Sclerosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lateral Sclerosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet