{"orpha":109,"name":"Bannayan-Riley-Ruvalcaba syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BRRS","Myhre-Riley-Smith syndrome"],"definition":"A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-109/","orphanet_url":"https://www.orpha.net/en/disease/detail/109","names":{"fr":{"name":"Syndrome de Bannayan-Riley-Ruvalcaba","synonyms":["BRRS","Syndrome de Myhre-Rikey-Smith"],"definition":"Anomalie rare du développement embryonnaire caractérisée par une polypose intestinale hamartomateuse, des lipomes, une macrocéphalie et une lentiginose génitale."},"de":{"name":"Bannayan-Riley-Ruvalcaba-Syndrom","synonyms":["BRRS","Myhre-Riley-Smith-Syndrom"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch hamartomatöse intestinale Polyposis, Lipome, Makrozephalie und genitale Lentiginose gekennzeichnet ist."},"es":{"name":"Síndrome de Bannayan-Riley-Ruvalcaba","synonyms":["BRRS","Síndrome de Myhre-Riley-Smith"],"definition":"Es un defecto del desarrollo embrionario poco frecuente caracterizado por pólipos intestinales hamartomatosos, lipomas, macrocefalia y lentiginosis genital."},"it":{"name":"Sindrome di Bannayan-Riley-Ruvalcaba","synonyms":["BRRS","Sindrome di Myhre-Riley-Smith"],"definition":"La sindrome di Bannayan-Riley-Ruvalcaba (BRRS) è un difetto raro dello sviluppo dell'embrione, caratterizzato da poliposi amartomatosa intestinale, lipomi, macrocefalia e lentigginosi genitale."},"nl":{"name":"Syndroom van Bannayan-Riley-Ruvalcaba","synonyms":["BRRS","Syndroom van Myhre-Riley-Smith"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekarakteriseerd door hamartomateuze intestinale polyposis, lipomen, macrocefalie, en genitale lentiginose."},"pt":{"name":"Síndrome Bannayan-Riley-Ruvalcaba","synonyms":["Síndrome Myhre-Riley-Smith"],"definition":"Defeito do desenvolvimento durante a embriogénese raro, caracterizado por polipose intestinal hamartomatosa, lipomas, macrocefalia e lentiginose genital."},"pl":{"name":"Zespół Bannayana, Riley'a i Ruvalcaba","synonyms":["BRRS","Zespół de Myhre, Rikey'a i Smitha","Zespół Myhre, Riley'a i Smitha"]},"cs":{"name":"Bannayanův-Rileyův-Ruvalcabaův syndrom","synonyms":["BRRS","Myhreho-Rileyův-Smithův syndrom","Bannayan-Riley-Ruvalcabaův syndrom","Myhre-Riley-Smithův syndrom"]},"uk":{"name":"Синдром Баннаяна-Райлі-Рувалькаба","synonyms":["BRRS","Синдром Міхре-Рейлі-Сміта"],"definition":"A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis."},"zh":{"name":"Bannayan-Riley-Ruvalcaba综合征","synonyms":["Myhre-Riley-Smith综合征"]},"tr":{"name":"Bannayan-Riley-Ruvalcaba sendromu","synonyms":["BRRS","Myhre-Riley-Smith sendromu"]}},"xrefs":[{"source":"OMIM","code":"158350","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"357383447"},{"source":"MONDO","code":"0007924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265326","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5887","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080314","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363314,"name":"Genetic intestinal polyposis","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":306498,"name":"PTEN hamartoma tumor syndrome","classifications":[147,152,156,187,202,233]}],"children":[],"genes":[{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301661[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"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:0002250","label":"Abnormal large intestine morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004390","label":"Hamartomatous polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009023","label":"Abdominal wall muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100641","label":"Neoplasm of the adrenal cortex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010784","label":"Uterine neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}