{"orpha":871,"name":"Hereditary progressive cardiac conduction defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary Lenègre disease","Hereditary Lev disease","Hereditary Lev-Lenègre disease","Hereditary PCCD","Hereditary bundle branch defect","Hereditary progressive heart block"],"definition":"A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-871/","orphanet_url":"https://www.orpha.net/en/disease/detail/871","names":{"fr":{"name":"Trouble héréditaire progressif de la conduction cardiaque","synonyms":["Bloc cardiaque progressif héréditaire","Maladie de Lenègre héréditaire","Maladie de Lev héréditaire","Maladie de Lev-Lenègre héréditaire","PCCD héréditaire"],"definition":"Maladie génétique du rythme cardiaque pouvant évoluer vers un bloc auriculo-ventriculaire (BAV) complet. La maladie est soit asymptomatique, soit se manifeste par une dyspnée, des vertiges, une syncope, des douleurs abdominales, une insuffisance cardiaque ou une mort subite."},"de":{"name":"Familiäre progressive kardiale Reizleitungsstörungen","synonyms":["Hereditäre Lev-Lenègre-Krankheit","Hereditärer Schenkelblock","Herzblock, familiärer progressiver","Lenègre-Krankheit","PCCD, familiäre Form"],"definition":"Eine genetisch bedingte Herzrhythmusstörung, die zu einem vollständigen atrioventrikulären (AV) Block führen kann. Die Krankheit ist entweder asymptomatisch oder äußert sich in Form von Atemnot, Schwindel, Synkopen, Bauchschmerzen, Herzversagen oder plötzlichem Tod."},"es":{"name":"Trastorno progresivo hereditario de la conducción cardíaca","synonyms":["Bloqueo cardíaco progresivo hereditario","Enfermedad de Lenègre hereditaria","Enfermedad de Lev hereditaria","Enfermedad de Lev-Lenègre hereditaria","PCCD hereditario","Trastorno hereditario de la rama del haz de His"],"definition":"Es una enfermedad genética del ritmo cardíaco que puede evolucionar a bloqueo auriculoventricular (AV) completo. La enfermedad es asintomática o se manifiesta como disnea, mareos, síncope, dolor abdominal, insuficiencia cardíaca o muerte súbita."},"it":{"name":"Difetto progressivo familiare della conduzione cardiaca","synonyms":["Blocco cardiaco di branca ereditario","Blocco cardiaco familiare progressivo","Malattia di Lenègre familiare","Malattia di Lev familiare","Malattia di Lev-Lenègre familiare","PCCD familiare"],"definition":"Si tratta di un'anomalia genetica del ritmo cardiaco, che può progredire verso il blocco atrioventricolare (AV) completo. I pazienti possono essere asintomatici, oppure presentare dispnea, vertigini, sincope, dolore addominale, insufficienza cardiaca o morte improvvisa."},"nl":{"name":"Hereditair progressief hartgeleidingsdefect","synonyms":["Erfelijk bundeltakblok","Erfelijk progressief hartblok","Erfelijke ziekte van Lenègre","Erfelijke ziekte van Lev","Erfelijke ziekte van Lev-Lenègre","Hereditair PCCD"],"definition":"Een genetische hartritmestoornis die kan evolueren tot volledig atrioventriculair (AV) blok. De ziekte kan asymptomatisch zijn, of manifesteert zich met dyspneu, duizeligheid, syncope, buikpijn, hartfalen of plots overlijden."},"pt":{"name":"Defeito de condução cardíaca progressivo hereditário","synonyms":["Bloqueio cardíaco progressivo hereditário","Defeito hereditário do ramo do feixe cardíaco","Doença Lenègre hereditária","Doença Lev hereditária","Doença Lev-Lenègre hereditária","PCCD hereditária"]},"pl":{"name":"Rodzinny postępujący blok serca","synonyms":["Rodzinny postępujący blok serca","Dziedziczna wada odnogi pęczka Hissa","Rodzinna choroba Lenegre'a","Rodzinna choroba Leva","Rodzinna choroba Leva i Lenegre'a","Rodzinny PCCD"]},"cs":{"name":"Familiární progresivní převodní porucha","synonyms":["Familiární Lenègrova nemoc","Familiární Levova nemoc","Familiární Levova-Lenégrova nemoc","Familiární PCCD","Familiární progresivní srdeční blokáda","Dědičná vada raménka","Familiární Lev-Lenégrova nemoc"]},"uk":{"name":"Сімейна прогресуюча вада серцевої провідності","synonyms":["Сімейна хвороба Ленегре","Сімейна хвороба Лева","Сімейна хвороба Лева-Ленегре","Сімейний PCCD","Сімейна прогресуюча блокада серця","Спадковий дефект гілок пучка"],"definition":"A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death."},"zh":{"name":"家族性进行性心脏传导阻滞","synonyms":["家族性进行性心脏传导阻滞"]},"tr":{"name":"Ailesel ilerleyici kardiyak iletim defekti","synonyms":["Ailesel PCCD","Ailesel Lev hastalığı","Ailesel Lenègre hastalığı","Ailesel Lev-Lenègre hastalığı","Kalıtsal demet dal defekti","Ailesel ilerleyici kalp bloğu"]}},"xrefs":[{"source":"OMIM","code":"113900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"115080","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"140400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604559","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612838","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I45.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC63.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1762068981"},{"source":"MONDO","code":"0019490","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566873","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1879286","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10005","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]}],"children":[],"genes":[{"symbol":"TRPM4","name":"transient receptor potential cation channel subfamily M member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"19726882[PMID]_20562447[PMID]","hgnc":"17993","ensembl":"ENSG00000130529","omim":"606936","loci":["19q13.33"]},{"symbol":"SCN1B","name":"sodium voltage-gated channel beta subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18464934[PMID]","hgnc":"10586","ensembl":"ENSG00000105711","omim":"600235","loci":["19q13.11"]},{"symbol":"SCN5A","name":"sodium voltage-gated channel alpha subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12598077[PMID]_19251209[PMID]_22717692[PMID]","hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"]},{"symbol":"NKX2-5","name":"NK2 homeobox 5","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"22179962[PMID]","hgnc":"2488","ensembl":"ENSG00000183072","omim":"600584","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"23851511[PMID]_5806048[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011710","label":"Bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null}]}}