{"orpha":392,"name":"Holt-Oram syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Atriodigital dysplasia type 1","HOS","Heart-hand syndrome type 1"],"definition":"A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-392/","orphanet_url":"https://www.orpha.net/en/disease/detail/392","names":{"fr":{"name":"Syndrome de Holt-Oram","synonyms":["Syndrome coeur-main type 1","Syndrome coeur-membres type 1","Dysplasie atrio-digitale type 1","HOS","Syndrome cardiomélique type 1"],"definition":"Syndrome génétique avec anomalies réductionnelles des membres caractérisé par des anomalies squelettiques des membres supérieurs et des malformations cardiaques congénitales allant de légères à sévères."},"de":{"name":"Holt-Oram-Syndrom","synonyms":["Dysplasie, atriodigitale, Typ 1","HOS","Herz-Hand-Syndrom Typ 1"],"definition":"Ein genetisches Syndrom mit Gliedmaßenreduktionsdefekten, das durch Skelettanomalien der oberen Gliedmaßen und leichte bis schwere angeborene Herzfehler gekennzeichnet ist."},"es":{"name":"Síndrome de Holt-Oram","synonyms":["Displasia atriodigital tipo 1","Síndrome mano-corazón tipo 1"],"definition":"Es un síndrome genético con defectos de reducción de las extreminades caracterizado por anomalías esqueléticas de las extremidades superiores y defectos cardíacos congénitos de gravedad variable"},"it":{"name":"Sindrome di Holt-Oram","synonyms":["Displasia atriodigitale","Sindrome cuore-mano"],"definition":"La sindrome di Holt-Oram (HOS) è una malattia genetica caratterizzata da difetti in riduzione degli arti, anomalie scheletriche degli arti superiori e cardiopatie congenite lievi o gravi."},"nl":{"name":"Syndroom van Holt-Oram","synonyms":["Atriodigitale dysplasie type 1","HOS","Hart-handsyndroom type 1"],"definition":"Een genetisch syndroom met ledemaatreductiedefecten, gekarakteriseerd door skeletafwijkingen van de bovenste ledematen en milde tot ernstige congenitale hartdefecten."},"pt":{"name":"Síndrome Holt-Oram","synonyms":["Displasia auriculo-digital","Síndrome coração-mão"]},"pl":{"name":"Zespół Holt i Orama","synonyms":["Dysplazja przedsionkowo-palcowa typu 1","HOS","Zespół serce - ręka typu 1"]},"cs":{"name":"Holtové-Oramův syndrom","synonyms":["Atriodigitální dysplázie, typ I","HOS","Holt-Oramův syndrom"]},"uk":{"name":"Синдром Холта-Орама","synonyms":["Атріодигітальна дисплазія типу 1","Синдром серце-рука, тип 1","HOS"],"definition":"A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects."},"zh":{"name":"Holt-Oram综合征","synonyms":["心房-手指发育不良1型"]},"tr":{"name":"Holt-Oram sendromu","synonyms":["HOS","Kalp-el sendromu tip 1","Atriyodijital displazi tip 1"]}},"xrefs":[{"source":"OMIM","code":"142900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1169240278"},{"source":"MONDO","code":"0007732","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535326","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265264","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6666","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10050469","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1940,"name":"Shoulder and thorax deformity-congenital heart disease syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":228184,"name":"Heart-hand syndrome","classifications":[147,156,199]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"TBX5","name":"T-box transcription factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301290[PMID]","hgnc":"11604","ensembl":"ENSG00000089225","omim":"601620","loci":["12q24.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"25344219[PMID]_EUROCAT European surveillance of congenital anomalies 1990-2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.95,"area":"Hungary","status":"Validated","source":"1996196[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009777","label":"Absent thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011705","label":"First degree atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004757","label":"Paroxysmal atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009829","label":"Phocomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null}]}}