{"orpha":542306,"name":"GNB5-related intellectual disability-cardiac arrhythmia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-542306/","orphanet_url":"https://www.orpha.net/en/disease/detail/542306","names":{"fr":{"name":"Syndrome de déficience intellectuelle-arythmie cardiaque associé à GNB5","definition":"Une maladie génétique rare caractérisée par une déficience intellectuelle, un retard de développement, des troubles du langage et une arythmie cardiaque (le plus souvent le syndrome du sinus malade). Parmi les autres signes cliniques rapportées figurent l'épilepsie, l'hypotonie, les malformations rétiniennes, le nystagmus, le trouble déficit de l'attention avec hyperactivité, l'autisme et le reflux gastro-oesophagien. La sévérité du phénotype est très variable."},"de":{"name":"Intelligenzminderung-Herzrhythmusstörung-Syndrom durch GNB5-Mangel","definition":"Eine seltene genetische Erkrankung, die durch Intelligenzminderung, Entwicklungsverzögerung, Sprachdefizite und Herzrhythmusstörungen (am häufigsten Sick-Sinus-Syndrom) gekennzeichnet ist. Darüber hinaus werden Epilepsie, Hypotonie, Netzhautanomalien, Nystagmus, Aufmerksamkeitsdefizit-Hyperaktivitätsstörung, Autismus und gastroösophagealer Reflux berichtet. Der Schweregrad des Phänotyps ist sehr unterschiedlich."},"es":{"name":"Síndrome de discapacidad intelectual-arritmia cardíaca por deficiencia de GNB5","definition":"Es una enfermedad de base genética poco frecuente caracterizada por discapacidad intelectual, retraso del desarrollo, trastornos del lenguaje y arritmia cardíaca (más comúnmente, enfermedad del nodo sinusal). Otras características adicionales descritas incluyen epilepsia, hipotonía, anomalías retinianas, nistagmo, trastorno por déficit de atención con hiperactividad, autismo y reflujo gastroesofágico. La gravedad del fenotipo es muy variable."},"it":{"name":"Sindrome disabilità intellettiva-aritmia cardiaca correlata a GNB5","definition":"Si tratta di una malattia genetica rara, caratterizzata da disabilità intellettiva, ritardo dello sviluppo, deficit del linguaggio e aritmia cardiaca (di solito la malattia del nodo del seno). I pazienti possono presentare anche epilessia, ipotonia, anomalie della retina, nistagmo, deficit di attenzione/iperattività, autismo e reflusso gastroesofageo. La gravità del fenotipo è molto variabile."},"nl":{"name":"Intellectuele achterstand - hartaritmie-syndroom door GNB5-deficiëntie","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door intellectuele achterstand, ontwikkelingsachterstand, taalachterstand, en hartritmestoornissen (meestal 'sick sinus'-syndroom (sinusknoopdisfunctie)). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer epilepsie, hypotonie, afwijkingen van retina, nystagmus, aandachtstekortstoornis met hyperactiviteit, autisme, en gastro-oesofageale reflux. De ernst van het fenotype is zeer variabel."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-arritmia cardíaca GNB5-relacionado"},"pl":{"name":"Zespół niepełnosprawności intelektualnej i arytmii serca zwiazany z GNB5"},"cs":{"name":"Syndrom zahrnující mentální retardaci a srdeční arytmii způsobený deficitem GNB5"},"uk":{"name":"Синдром серцевої аритмії, повязаний з інтелектуальною недостатністю та серцевою аритмією, спричиненою GNB5","definition":"A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable."},"zh":{"name":"GNB5基因相关的智力障碍-心律失常综合征"},"tr":{"name":"GNB5-ilişkili zihinsel yetersizlik-kardiyak aritmi sendromu"}},"xrefs":[{"source":"OMIM","code":"617173","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617182","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014953","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568877","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GNB5","name":"G protein subunit beta 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27523599[PMID]_30631341[PMID]","hgnc":"4401","ensembl":"ENSG00000069966","omim":"604447","loci":["15q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"27523599[PMID]_27677260[PMID]_28697420[PMID]_29368331[PMID]_30631341[PMID]"},{"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":"2020-08-18","source":"32280589[PMID]_27523599[PMID]","terms":[{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011704","label":"Sick sinus syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005155","label":"Ventricular escape rhythm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012248","label":"Prolonged PR interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Occasional (29-5%)","criteria":null}]}}