{"orpha":803,"name":"Amyotrophic lateral sclerosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALS","Charcot disease","Lou Gehrig disease"],"definition":"A rare neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-803/","orphanet_url":"https://www.orpha.net/en/disease/detail/803","names":{"fr":{"name":"Sclérose latérale amyotrophique","synonyms":["Maladie de Charcot","Maladie de Lou Gehrig","SLA"],"definition":"Maladie neurodégénérative rare caractérisée par une paralysie musculaire progressive due à une dégénérescence des motoneurones du cortex moteur primaire, de la voie corticospinale, du tronc cérébral et de la moelle épinière."},"de":{"name":"Amyotrophe Lateralsklerose","synonyms":["Charcot-Krankheit","Lou-Gehrig-Krankheit"],"definition":"Die Amyotrophe Lateralsklerose (ALS) ist eine neurodegenerative Erkrankung mit progredienter muskulärer Paralyse als Folge einer Degeneration der Motorneuronen der primären motorischen Cortex, der kortikospinalen Bahnen, des Hirnstamms und des Rückenmarks."},"es":{"name":"Esclerosis lateral amiotrófica","synonyms":["ELA","Enfermedad de Charcot","Enfermedad de Lou-Gehrig"],"definition":"Es una enfermedad neurodegenerativa caracterizada por parálisis muscular progresiva a consecuencia de una degeneración de las neuronas motoras en la corteza motora primaria, tracto corticoespinal, tronco encefálico y médula espinal."},"it":{"name":"Sclerosi laterale amiotrofica","synonyms":["Malattia di Charcot","Malattia di Lou-Gehrig"],"definition":"La sclerosi laterale amiotrofica (SLA) è una malattia neurodegenerativa caratterizzata da paralisi muscolare progressiva che riflette la degenerazione dei neuroni motori nella corteccia motoria primitiva, nei tratti corticospinali, nel tronco cerebrale e nel midollo spinale."},"nl":{"name":"Amyotrofische laterale sclerose","synonyms":["ALS","Amyotrofe laterale sclerose","Ziekte van Charcot","Ziekte van Lou Gehrig"],"definition":"Een zeldzame neurodegeneratieve ziekte, gekenmerkt door progressieve spierverlamming die degeneratie van motorneuronen in de primaire motorische cortex, tractus corticospinalis, hersenstam en ruggenmerg weerspiegelt."},"pt":{"name":"Esclerose lateral amiotrófica","synonyms":["Doença de Charcot","Doença de Lou-Gehrig","ELA"],"definition":"A esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa caracterizada por paralisia muscular progressiva reflectindo degenerescência dos neurónios motores no córtex motor primário, vias corticoespinhais, tronco cerebral e medula espinhal."},"pl":{"name":"Stwardnienie zanikowe boczne","synonyms":["ALS","Choroba Charcota","Choroba Lou Gehriga"],"definition":"Choroba neurodegeneracyjna charakteryzująca się postępującym porażeniem mięśni wskutek zwyrodnienia neuronów ruchowych w pierwotnej korze ruchowej, drogach korowo-rdzeniowych, pniu mózgu i rdzeniu kręgowym."},"cs":{"name":"Amyotrofická laterální skleróza","synonyms":["ALS","Charcotova nemoc","Lou Gehrigova nemoc"]},"uk":{"name":"Бічний аміотрофічний склероз","synonyms":["ALS","Хвороба Шарко","Хвороба Лу Геріга"],"definition":"A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord."},"zh":{"name":"肌萎缩侧索硬化","synonyms":["Lou Gehrig病"]},"tr":{"name":"Amyotrofik lateral skleroz","synonyms":["ALS","Charcot hastalığı","Lou Gehrig hastalığı"]}},"xrefs":[{"source":"OMIM","code":"105400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"205250","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300857","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600795","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606070","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606640","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608030","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608031","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608627","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611895","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612069","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612577","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613954","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614808","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615426","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615515","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616208","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616437","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617839","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617892","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617921","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619133","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619141","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620452","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8B60.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1982355687"},{"source":"MONDO","code":"0004976","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000690","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002736","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5786","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002026","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":98503,"name":"Motor neuron disease","classifications":[181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"DCTN1","name":"dynactin subunit 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23941283[PMID]","hgnc":"2711","ensembl":"ENSG00000204843","omim":"601143","loci":["2p13.1"]},{"symbol":"TAF15","name":"TATA-box binding protein associated factor 15","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21438137[PMID]","hgnc":"11547","ensembl":"ENSG00000270647","omim":"601574","loci":["17q12"]},{"symbol":"ANG","name":"angiogenin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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410","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27455348[PMID]_26974433[PMID]","hgnc":"1260","ensembl":"ENSG00000160226","omim":"603191","loci":["21q22.3"]},{"symbol":"CHCHD10","name":"coiled-coil-helix-coiled-coil-helix domain containing 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25113787[PMID]_25261972[PMID]_25113788[PMID]_25261971[PMID]_25348631[PMID]_25348633[PMID]_25155093[PMID]","hgnc":"15559","ensembl":"ENSG00000250479","omim":"615903","loci":["22q11.23"]},{"symbol":"CHMP2B","name":"charged multivesicular body protein 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20352044[PMID]_23155438[PMID]_16807408[PMID]","hgnc":"24537","ensembl":"ENSG00000083937","omim":"609512","loci":["3p11.2"]},{"symbol":"DAO","name":"D-amino acid 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protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301623[PMID]_23941283[PMID]","hgnc":"11179","ensembl":"ENSG00000142168","omim":"147450","loci":["21q22.11"]},{"symbol":"SQSTM1","name":"sequestosome 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23303844[PMID]_24138988[PMID]_22084127[PMID]_24085347[PMID]","hgnc":"11280","ensembl":"ENSG00000161011","omim":"601530","loci":["5q35.3"]},{"symbol":"TARDBP","name":"TAR DNA binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24085347[PMID]","hgnc":"11571","ensembl":"ENSG00000120948","omim":"605078","loci":["1p36.22"]},{"symbol":"UBQLN2","name":"ubiquilin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24085347[PMID]","hgnc":"12509","ensembl":"ENSG00000188021","omim":"300264","loci":["Xp11.21"]},{"symbol":"VAPB","name":"VAMP associated protein B and C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301623[PMID]_23941283[PMID]","hgnc":"12649","ensembl":"ENSG00000124164","omim":"605704","loci":["20q13.32"]},{"symbol":"VCP","name":"valosin containing protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24085347[PMID]","hgnc":"12666","ensembl":"ENSG00000165280","omim":"601023","loci":["9p13.3"]},{"symbol":"ATXN2","name":"ataxin 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24085347[PMID]","hgnc":"10555","ensembl":"ENSG00000204842","omim":"601517","loci":["12q24.12"]},{"symbol":"GLT8D1","name":"glycosyltransferase 8 domain containing 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"30811981[PMID]","hgnc":"24870","ensembl":"ENSG00000016864","omim":"618399","loci":["3p21.1"]},{"symbol":"NEFH","name":"neurofilament heavy chain","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23941283[PMID]","hgnc":"7737","ensembl":"ENSG00000100285","omim":"162230","loci":["22q12.2"]},{"symbol":"NEK1","name":"NIMA related kinase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26945885[PMID]","hgnc":"7744","ensembl":"ENSG00000137601","omim":"604588","loci":["4q33"]},{"symbol":"PRPH","name":"peripherin","gene_type":"gene with protein product","association":"Major susceptibility factor 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dominant","Autosomal recessive","Multigenic/multifactorial","X-linked dominant"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Europe","status":"Validated","source":"19710046[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.2,"area":"Europe","status":"Validated","source":"19192301[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.85,"area":"Worldwide","status":"Not yet validated","source":"21665992[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.35,"area":"Worldwide","status":"Not yet validated","source":"21665992[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.06,"area":"United Kingdom","status":"Validated","source":"17898523[PMID]_17219036[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.9,"area":"United Kingdom","status":"Validated","source":"17898523[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Ireland","status":"Validated","source":"10025778[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.7,"area":"Ireland","status":"Validated","source":"10025778[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Finland","status":"Validated","source":"6601351[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"Finland","status":"Validated","source":"6601351[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Canada","status":"Not yet validated","source":"3762972[PMID]_19494548[PMID]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.9,"area":"Canada","status":"Validated","source":"3762972[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.46,"area":"United States","status":"Validated","source":"25298019[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.37,"area":"Uruguay","status":"Validated","source":"18334826[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Uruguay","status":"Validated","source":"18334826[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Denmark","status":"Validated","source":"2786160[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Denmark","status":"Validated","source":"2786160[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Italy","status":"Validated","source":"19237701[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.9,"area":"Italy","status":"Not yet validated","source":"19237701[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"France","status":"Validated","source":"19452307[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Spain","status":"Validated","source":"23286747[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.4,"area":"Spain","status":"Validated","source":"23286747[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Norway","status":"Validated","source":"21860251[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Norway","status":"Validated","source":"21860251[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.51,"area":"Taiwan, Province of China","status":"Validated","source":"DOI:10.1016/j.jfma.2013.01.008[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.97,"area":"Taiwan, Province of China","status":"Validated","source":"DOI:10.1016/j.jfma.2013.01.008[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"Faroe Islands","status":"Validated","source":"22034926[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.42,"area":"Iran, Islamic Republic of","status":"Validated","source":"20214678[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.57,"area":"Iran, Islamic Republic of","status":"Validated","source":"20214678[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Specific population","status":"Validated","source":"23052600[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.8,"area":"Specific population","status":"Validated","source":"23052600[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Specific population","status":"Validated","source":"22409362[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Specific population","status":"Validated","source":"22409362[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-05","source":"27514291[PMID]_36116464[PMID]_28552366[PMID]_30207670[PMID]","terms":[{"hpo":"HP:0007354","label":"Amyotrophic lateral sclerosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007373","label":"Motor neuron atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002180","label":"Neurodegeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030878","label":"Abnormality on pulmonary function testing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030192","label":"Fatigable weakness of bulbar muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030196","label":"Fatigable weakness of respiratory muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030195","label":"Fatigable weakness of swallowing muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031993","label":"Hoffmann sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008955","label":"Progressive distal muscular atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002145","label":"Frontotemporal dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033683","label":"Jaw hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025425","label":"Laryngospasm","frequency":"Very rare (<4-1%)","criteria":null}]}}