{"orpha":37553,"name":"Andersen-Tawil syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Andersen syndrome","LQT7","Long QT syndrome type 7"],"definition":"A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-37553/","orphanet_url":"https://www.orpha.net/en/disease/detail/37553","names":{"fr":{"name":"Syndrome d'Andersen-Tawil","synonyms":["LQT7","Syndrome d'Andersen","Syndrome du QT long type 7"],"definition":"Maladie rare caractérisée par une paralysie musculaire périodique, un allongement de l'intervalle QT avec une variété d'arythmies ventriculaires (entraînant une prédisposition à la mort subite par arrêt cardiaque) et des traits physiques caractéristiques : petite taille, scoliose, oreilles d'implantation basse, hypertélorisme, racine nasale large, micrognathie, clinodactylie, brachydactylie et syndactylie."},"de":{"name":"Andersen-Tawil-Syndrom","synonyms":["Andersen-Syndrom","LQT7","Long-QT-Syndrom Typ 7"],"definition":"Das Andersen-Tawil-Syndrom ist seltene Erkrankung, die durch periodische Muskellähmung, verlängertem QT-Intervall und einer Vielzahl von ventrikulären Arrhythmien (die zum plötzlichen Herztod prädisponieren) sowie charakteristischen somatischen Merkmalen gekennzeichnet ist: Kleinwuchs, Skoliose, tiefsitzende Ohren, Hypertelorismus, breite Nasenwurzel, Mikrognathie, Klinodaktylie, Brachydaktylie und Syndaktylie."},"es":{"name":"Síndrome de Andersen-Tawil","synonyms":["LQT7","Síndrome de Andersen","Síndrome de QT largo tipo 7"],"definition":"Es un trastorno poco frecuente caracterizado por parálisis muscular periódica, prolongación del intervalo QT con una variedad de arritmias ventriculares (conducentes a predisposición a la muerte cardíaca súbita) y rasgos físicos característicos: talla baja, escoliosis, orejas de implantación baja, hipertelorismo, raíz nasal ancha, micrognatia, clinodactilia, braquidactilia y sindactilia."},"it":{"name":"Paralisi periodica cardiodisritmica sensibile al potassio","synonyms":["LQT7","Paralisi periodica cardiodisritmica di Andersen","Sindrome del QT lungo, tipo 7","Sindrome di Andersen","Sindrome di Andersen-Tawil"]},"nl":{"name":"Syndroom van Andersen-Tawil","synonyms":["LQT7","Lang-QT-syndroom type 7","Syndroom van Andersen"],"definition":"Een zeldzame aandoening, gekenmerkt door periodieke spierverlamming, verlenging van het QT-interval met verschillende ventriculaire aritmieën (die leiden tot vatbaarheid voor plotse hartdood), en typische fysieke kenmerken: kleine gestalte, scoliose, laagstaande oren, hypertelorisme, brede neuswortel, micrognathie, clinodactylie, brachydactylie, en syndactylie."},"pt":{"name":"Síndrome Andersen-Tawil","synonyms":["LQT7","Síndrome Andersen","Síndrome de QT longo tipo 7"]},"pl":{"name":"Okresowy paraliż wrażliwy na potas z arytmią serca","synonyms":["LQT7","Okresowe porażenie kardiodysrytmiczne Andersena","Zespół Andersena","Zespół Andersena i Tawila","Zespół długiego QT typu 7"]},"cs":{"name":"Andersenova kardiodysrytmická periodická paralýza","synonyms":["Kardiodysrytmická draslík-sensitivní periodická paralýza","LQT7","Syndrom dlouhého QT 7","Andersenův syndrom","Andersenův-Tawilův syndrom","Andersen-Tawilův syndrom"]},"uk":{"name":"Синдром Андерсена-Тавіла","synonyms":["Синдром Андерсена","Синдром подовженого інтервалу QT, тип 7","LQT7"],"definition":"A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly."},"zh":{"name":"Andersen-Tawil综合征","synonyms":["长QT综合征7型"]},"tr":{"name":"Andersen-Tawil sendromu","synonyms":["LQT7","Andersen sendromu","Uzun QT sendromu tip 7"]}},"xrefs":[{"source":"OMIM","code":"170390","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G72.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1684553772"},{"source":"MONDO","code":"0008222","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D050030","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1563715","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9453","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083859","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":371433,"name":"Genetic periodic paralysis","classifications":[156]},{"orpha":98741,"name":"Neurological muscular channelopathy due to a genetic potassium channel defect","classifications":[156,181]},{"orpha":206976,"name":"Periodic paralysis","classifications":[181]}],"children":[],"genes":[{"symbol":"KCNJ2","name":"potassium inwardly rectifying channel subfamily J member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301441[PMID]_16571646[PMID]","hgnc":"6263","ensembl":"ENSG00000123700","omim":"600681","loci":["17q24.3"]},{"symbol":"KCNJ5","name":"potassium inwardly rectifying channel subfamily J member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24574546[PMID]","hgnc":"6266","ensembl":"ENSG00000120457","omim":"600734","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Netherlands","status":"Validated","source":"29606556[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"United Kingdom","status":"Validated","source":"23516313[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-02","source":"20301441[PMID]_32947483[PMID]_29125635[PMID]","terms":[{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003768","label":"Periodic paralysis","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003752","label":"Episodic flaccid weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008153","label":"Periodic hypokalemic paresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005147","label":"Bidirectional ventricular ectopy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001864","label":"Clinodactyly of the 5th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007215","label":"Periodic hyperkalemic paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006696","label":"Polymorphic and polytopic ventricular extrasystoles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031677","label":"Polymorphic ventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005184","label":"Prolonged QTc interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025072","label":"Prominent U wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030799","label":"Scaphocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001664","label":"Torsade de pointes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006682","label":"Ventricular extrasystoles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very rare (<4-1%)","criteria":null}]}}