{"orpha":3197,"name":"Hereditary hyperekplexia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital stiff man syndrome","Familial startle disease","Hereditary hyperexplexia","Kok disease","Stiff baby syndrome"],"definition":"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3197/","orphanet_url":"https://www.orpha.net/en/disease/detail/3197","names":{"fr":{"name":"Hyperexplexie héréditaire","synonyms":["Hyperekplexie","Hyperekplexie héréditaire","Maladie de Kok","Maladie familiale du sursaut","Syndrome \"stiff baby\"","Syndrome \"stiff man\" congénital"],"definition":"L'hyperexplexie héréditaire est un trouble neurologique héréditaire qui se caractérise par un réflexe de sursaut exagéré."},"de":{"name":"Hyperekplexie, hereditäre","synonyms":["Kok-Krankheit","Startle-Krankheit, familiäre","Stiff-Baby-Syndrom","Stiff-Man-Syndrom, kongenitales"],"definition":"Die Hereditäre Hyperekplexie ist eine erbliche neurologische Erkrankung und gekennzeichnet durch exzessive Schreckreaktionen."},"es":{"name":"Hiperekplexia hereditaria","synonyms":["Hiperplexia hereditaria","Síndrome congénito del hombre rígido","Síndrome del bebé rígido","Enfermedad de Kok","Enfermedad del sobresalto familiar","Hiperecplexia hereditaria"],"definition":"La hiperekplexia hereditaria es un trastorno neurológico hereditario caracterizado por una respuesta de sobresalto exagerada."},"it":{"name":"Iperekplexia ereditaria","synonyms":["Iperekplexia","Iperexplexia ereditaria","Malattia dei sussulti familiare","Malattia di Kok","Sindrome congenita dell'uomo rigido","Sindrome del neonato rigido"]},"nl":{"name":"Erfelijke hyperekplexie","synonyms":["Congenitaal stiff man-syndroom","Congenitaal stijve man-syndroom","Familiale schrikziekte","Hereditaire hyperekplexie","Stiff baby-syndroom","Stijve baby-syndroom","Ziekte van Kok"],"definition":"Hereditaire hyperekplexie is een erfelijke neurologische aandoening, gekenmerkt door overmatige schrikreacties."},"pt":{"name":"Hiperecplexia hereditária","synonyms":["Doença \"startle\" familiar","Doença de Kok","Hiperecplexia hereditária","Síndrome bebé rígido","Síndrome homem rígido congénito"],"definition":"A hiperecplexia hereditária é uma doença neurológica hereditária caracterizada por respostas de sobressalto excessivo."},"pl":{"name":"Hiperekpleksja dziedziczna","synonyms":["Choroba Koka","Familial startle disease","Hiperekpleksja","Hiperekpleksja dziedziczna","Wrodzony zespół sztywności uogólnionej","Zespół sztywnego dziecka"]},"cs":{"name":"Defekt glycinového receptoru","synonyms":["Vrozený syndrom celkového ztuhnutí","Familiární choroba s úlekovými reakcemi","Hereditární hyperekplexie","Kokova nemoc"]},"uk":{"name":"Спадкова гіперекплексія","synonyms":["Синдром вродженої скутості людини","Родинна хвороба тремтіння","Спадкова гіперчутливість","Хвороба Кок","Синдром скованого немовляти"],"definition":"Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses."},"zh":{"name":"遗传性肌张力过度","synonyms":["先天性僵人综合征"]},"tr":{"name":"Kalıtsal hiperekpleksi","synonyms":["Kok hastalığı","Katı bebek sendromu","Ailesel irkilme hastalığı","Kalıtsal hiperekspleksi","Doğumsal katı adam sendromu"]}},"xrefs":[{"source":"OMIM","code":"149400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614618","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614619","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618011","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"988250063"},{"source":"MONDO","code":"0021022","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538136","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835614","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3129","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98122,"name":"OBSOLETE: Channelopathy due to a neuronal glycine receptor defect","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":306773,"name":"Hyperekplexia","classifications":[181]},{"orpha":79219,"name":"Metabolic disease involving other neurotransmitter deficiency","classifications":[150,156,181]},{"orpha":98747,"name":"Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":183521,"name":"Rare genetic movement disorder","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATAD1","name":"ATPase family AAA domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29390050[PMID]","hgnc":"25903","ensembl":"ENSG00000138138","omim":"614452","loci":["10q23.31"]},{"symbol":"GLRA1","name":"glycine receptor alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301437[PMID]","hgnc":"4326","ensembl":"ENSG00000145888","omim":"138491","loci":["5q33.1"]},{"symbol":"GLRB","name":"glycine receptor beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301437[PMID]","hgnc":"4329","ensembl":"ENSG00000109738","omim":"138492","loci":["4q32.1"]},{"symbol":"GPHN","name":"gephyrin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301437[PMID]","hgnc":"15465","ensembl":"ENSG00000171723","omim":"603930","loci":["14q23.3"]},{"symbol":"SLC6A5","name":"solute carrier family 6 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301437[PMID]","hgnc":"11051","ensembl":"ENSG00000165970","omim":"604159","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-10","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}