{"orpha":353277,"name":"Rubinstein-Taybi syndrome due to CREBBP mutations","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Rubinstein-Taybi syndrome","url":"https://raremap.alftech.space/d/ORPHA-353277/","orphanet_url":"https://www.orpha.net/en/disease/detail/353277","names":{"fr":{"name":"Syndrome de Rubinstein-Taybi dû à des mutations de CREBBP"},"de":{"name":"Rubinstein-Taybi-Syndrom durch CREBBP-Genmutation"},"es":{"name":"Síndrome de Rubinstein-Taybi por mutaciones en el gen CREBBP"},"it":{"name":"Sindrome di Rubinstein-Taybi da mutazioni di CREBBP"},"nl":{"name":"Syndroom van Rubinstein-Taybi door CREBBP-mutaties"},"pt":{"name":"Síndrome Rubinstein-Taybi por mutações CREBBP"},"pl":{"name":"Zespół Rubinsteina i Taybiego spowodowany mutacjami CREBBP"},"cs":{"name":"Rubinsteinův-Taybiův syndrom způsobený mutacemi v CREBBP genu","synonyms":["Rubinstein-Taybiův syndrom způsobený mutacemi v CREBBP genu"]},"uk":{"name":"Синдром Рубінштейна-Тейбі, зумовлений мутацією CREBBP"},"zh":{"name":"CREBBP基因突变所致Rubinstein-Taybi综合征"},"tr":{"name":"CREBBP mutasyonlarına bağlı Rubinstein-Taybi sendromu"}},"xrefs":[{"source":"OMIM","code":"180849","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008393","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681840","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":783,"name":"Rubinstein-Taybi syndrome","classifications":[147,156,181,188,189,193,199,202,233]}],"children":[],"genes":[{"symbol":"CREBBP","name":"CREB binding lysine acetyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301699[PMID]","hgnc":"2348","ensembl":"ENSG00000005339","omim":"600140","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-08","source":"31637876[PMID]_20301699[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005322","label":"Prominent nasal septum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006200","label":"Widened distal phalanges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100852","label":"Abnormal fear/anxiety-related behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009834","label":"Abnormal proximal phalanx morphology of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000756","label":"Agoraphobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009836","label":"Broad distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008752","label":"Laryngeal cartilage malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007086","label":"Social and occupational deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011087","label":"Talon cusp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031251","label":"Abnormal subclavian artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030047","label":"Abnormality of lateral ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010674","label":"Abnormality of the curvature of the vertebral column","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional 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(29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001128","label":"Trichiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002341","label":"Cervical cord compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005363","label":"Humoral immunodeficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010775","label":"Vascular ring","frequency":"Very rare (<4-1%)","criteria":null}]}}