MCID: LTR001
MIFTS: 50

Lateral Sclerosis malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Lateral Sclerosis

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NIH Rare Diseases:43 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 based summary: Lateral Sclerosis, also known as primary lateral sclerosis, is related to motor neuron disease and amyotrophic lateral sclerosis 1. 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.

Disease Ontology:10 A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.

NINDS:44 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.

Aliases & Classifications for Lateral Sclerosis

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Sources:
62UMLS, 10Disease Ontology, 12DISEASES, 43NIH Rare Diseases, 44NINDS, 45Novoseek, 49Orphanet, 57SNOMED-CT, 35MeSH, 29ICD9CM, 28ICD10 via Orphanet
See all sources

Lateral Sclerosis, Aliases & Descriptions:

Name: Lateral Sclerosis 10 12 62
Primary Lateral Sclerosis 10 43 44 45 49 62
Adult-Onset Primary Lateral Sclerosis 10 43 49
 
Pls 43 49 62
Adult-Onset Pls 43 49
Primary Lateral Sclerosis, Adult, 1 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
primary lateral sclerosis:
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:230
MeSH35 D016472
ICD9CM29 335.24
SNOMED-CT57 81211007
Orphanet49 35689
ICD10 via Orphanet28 G12.2

Related Diseases for Lateral Sclerosis

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Diseases in the Lateral Sclerosis family:

Primary Lateral Sclerosis, Juvenile 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 220)
idRelated DiseaseScoreTop Affiliating Genes
1motor neuron disease31.4SOD1, NEFH, ALS2
2amyotrophic lateral sclerosis 131.3ALS2, FUS, C9orf72, SETX, SOD1, NEFH
3neuropathy30.7NEFH, SETX, FIG4
4aphasia30.4FUS, C9orf72
5dementia, frontotemporal30.2FUS, C9orf72, SOD1
6neuronitis11.1
7dementia11.0
8amyotrophic lateral sclerosis-parkinsonism/dementia complex10.7
9primary lateral sclerosis, juvenile10.7
10amyotrophic lateral sclerosis type 210.6
11muscular atrophy10.6
12amyotrophic lateral sclerosis type 410.6
13endotheliitis10.6
14amyotrophic lateral sclerosis 810.5
15amyotrophic lateral sclerosis 10, with or without ftd10.5
16spasticity10.5
17amyotrophic lateral sclerosis 1110.5
18amyotrophic lateral sclerosis 910.5
19amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia10.5
20progressive muscular atrophy10.5
21amyotrophic lateral sclerosis 310.5
22amyotrophic lateral sclerosis 710.5
23amyotrophic lateral sclerosis type 510.5
24spinal muscular atrophy10.5
25amyotrophic lateral sclerosis type 1410.5
26amyotrophic lateral sclerosis and/or frontotemporal dementia10.4
27amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
28myocardial infarction10.4
29amyotrophic lateral sclerosis 1710.4
30insulin-like growth factor i10.4
31amyotrophic lateral sclerosis 1810.4
32multifocal motor neuropathy10.4
33amyotrophic lateral sclerosis 1210.4
34amyotrophic lateral sclerosis 15, with or without frontotemporal dementia10.4
35hereditary spastic paraplegia10.4
36cerebritis10.4
37ftdals110.4
38cervicitis10.4
39paraplegia10.4
40primary lateral sclerosis, adult, 110.3
41amyotrophic lateral sclerosis 2110.3
42poliomyelitis10.3
43tauopathy10.3
44dysphagia10.3
45blindness10.3
46split hand10.3
47amyotrophic lateral sclerosis 2, juvenile10.3
48amyotrophic lateral sclerosis 1910.3
49amyotrophic lateral sclerosis 16, juvenile10.3
50amyotrophic lateral sclerosis 4, juvenile10.3

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



Diseases related to lateral sclerosis

Symptoms for Lateral Sclerosis

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Drugs & Therapeutics for Lateral Sclerosis

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Drug clinical trials:

Search ClinicalTrials for Lateral Sclerosis

Search NIH Clinical Center for Lateral Sclerosis

Genetic Tests for Lateral Sclerosis

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Anatomical Context for Lateral Sclerosis

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MalaCards organs/tissues related to Lateral Sclerosis:

33
Spinal cord, Brain, Testes, Cortex, Skin, Endothelial, Skeletal muscle, Monocytes, Tongue, Salivary gland, Eye, Bone, Pituitary, Bone marrow, Cerebellum, Liver, Lung, Breast, Prostate, Temporal lobe, Amygdala

Animal Models for Lateral Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Lateral Sclerosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5TRPM7, SIGMAR1, ALS2, CARF, FIG4, FAM117B

Publications for Lateral Sclerosis

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Articles related to Lateral Sclerosis:

(show top 50)    (show all 1927)
idTitleAuthorsYear
1
Mitochondrial dysfunction in blood cells from amyotrophic lateral sclerosis patients. (25893255)
2015
2
The MITOS system predicts long-term survival in amyotrophic lateral sclerosis. (25886781)
2015
3
Genetically altering organismal metabolism by leptin-deficiency benefits a mouse model of amyotrophic lateral sclerosis. (24833719)
2014
4
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
5
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. (24562058)
2014
6
Limb-onset amyotrophic lateral sclerosis patients visiting orthopedist show a longer time-to-diagnosis since symptom onset. (23394455)
2013
7
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
8
Genetics of amyotrophic lateral sclerosis: an update. (23941283)
2013
9
PGC-1I+ is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis. (23669350)
2013
10
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
11
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. (22922411)
2012
12
TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis. (20708823)
2012
13
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. (22406228)
2012
14
Two potential biomarkers identified in mesenchymal stem cells and leukocytes of patients with sporadic amyotrophic lateral sclerosis. (22430187)
2012
15
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
16
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. (22057404)
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 Lateral Sclerosis

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Expression for genes affiliated with Lateral Sclerosis

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Search GEO for disease gene expression data for Lateral Sclerosis.

Pathways for genes affiliated with Lateral Sclerosis

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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)38
9.9ALS2, NEFH, SOD1

Compounds for genes affiliated with Lateral Sclerosis

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GO Terms for genes affiliated with Lateral Sclerosis

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

idNameGO IDScoreTop Affiliating Genes
1regulation of Rac GTPase activityGO:003231410.1ALS2, SOD1
2locomotory behaviorGO:00076269.7ALS2, FIG4, SOD1
3cell deathGO:00082199.1SIGMAR1, FUS, C9orf72, SETX, NEFH, FIG4

Products for genes affiliated with Lateral Sclerosis

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Sources for Lateral Sclerosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet