Amyotrophic Lateral Sclerosis 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 36MedlinePlus, 2CDC, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Amyotrophic Lateral Sclerosis 1:
Orphanet epidemiological data:52
amyotrophic lateral sclerosis:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States); Age of onset: Adult; Age of death: adult
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases
ICD10: 29 28
Rare neurological diseases
OMIM:50 Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain,... (105400) more...
MalaCards based summary: Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis, is related to motor neuron disease and amyotrophic lateral sclerosis-parkinsonism/dementia complex, and has symptoms including back pain, back pain and headache. An important gene associated with Amyotrophic Lateral Sclerosis 1 is SOD1 (Superoxide Dismutase 1, Soluble), and among its related pathways are Amyotrophic lateral sclerosis (ALS) and Cytoskeleton remodeling Neurofilaments. The drug riluzole has been mentioned in the context of this disorder. Affiliated tissues include sod1 gene located in chromosome 21, skeletal muscle and brain, and related mouse phenotypes are cellular and behavior/neurological.
Disease Ontology:11 The most common type of familial als caused by mutation located in sod1 gene located in chromosome 21.
Genetics Home Reference:24 Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.
NIH Rare Diseases:46 Amyotrophic lateral sclerosis (als), also referred to as "lou gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. there are various types of als, which are distinguished by their signs and symptoms and their cause. early symptoms may include muscle twitching, cramping, stiffness, or weakness, eventually followed by slurred speech and difficulty chewing or swallowing (dysphagia). as the disease progresses, individuals become weaker are are eventually wheelchair-dependent. death often results from respiratory failure within 2 to 10 years after the onset of symptoms. most affected individuals have a sporadic (not inherited) form of als; about 5-10% have a familial (inherited) form of the condition. familial als may caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. treatment is generally supportive. last updated: 1/7/2013
MedlinePlus:36 Amyotrophic lateral sclerosis (als) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. these neurons transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. at first, this causes mild muscle problems. some people notice trouble walking or running trouble writing speech problems eventually, you lose your strength and cannot move. when muscles in your chest fail, you cannot breathe. a breathing machine can help, but most people with als die from respiratory failure. the disease usually strikes between age 40 and 60. more men than women get it. no one knows what causes als. it can run in families, but usually it strikes at random. there is no cure. medicines can relieve symptoms and, sometimes, prolong survival. nih: national institute of neurological disorders and stroke
NINDS:47 Amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease or classical motor neuron disease, is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles.
UniProtKB/Swiss-Prot:68 Amyotrophic lateral sclerosis: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
GeneReviews summary for NBK1450
HPO human phenotypes related to Amyotrophic Lateral Sclerosis 1:(show all 11)
UMLS symptoms related to Amyotrophic Lateral Sclerosis 1:back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness, muscular fasciculation, muscle cramp, muscle spasticity, hyperexplexia
Drugs for Amyotrophic Lateral Sclerosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 109)
Interventional clinical trials:(show top 50) (show all 352)
Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 1
Inferred drug relations via UMLS66/NDF-RT44:
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Amyotrophic Lateral Sclerosis 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Amyotrophic Lateral Sclerosis 1:
Embryonic/Adult Cultured Cells Related to Amyotrophic Lateral Sclerosis 1:
MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 1:34
Skeletal muscle, Brain, Spinal cord, Bone, Bone marrow, Testes, Tongue
FMA organs/tissues related to Amyotrophic Lateral Sclerosis 1:17
Sod1 gene located in chromosome 21
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Amyotrophic Lateral Sclerosis 1:
MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 1:39
Articles related to Amyotrophic Lateral Sclerosis 1:
UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 1:68 (show all 81)
Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis 1:5 (show all 34)
Copy number variations for Amyotrophic Lateral Sclerosis 1 from CNVD:6 (show top 50) (show all 272)
Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 1.
Pathways related to Amyotrophic Lateral Sclerosis 1 according to KEGG:32
Pathways related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:
Cellular components related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:
Biological processes related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:
Molecular functions related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet