{"orpha":805,"name":"Tuberous sclerosis complex","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bourneville syndrome","Tuberous sclerosis"],"definition":"A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-805/","orphanet_url":"https://www.orpha.net/en/disease/detail/805","names":{"fr":{"name":"Sclérose tubéreuse de Bourneville","synonyms":["STB","Sclérose tubéreuse","Syndrome de Bourneville"],"definition":"Maladie neurocutanée rare caractérisée par des hamartomes multisystèmes, affectant le plus souvent la peau, le cerveau, les reins, les poumons, les yeux et le coeur, et associée à des troubles neuropsychiatriques."},"de":{"name":"Tuberöse Sklerose Komplex","synonyms":["Bourneville-Syndrom","Tuberöse Sklerose"],"definition":"Eine seltene neurokutane Erkrankung, die durch Multisystem-Hamartome gekennzeichnet ist, die am häufigsten die Haut, das Gehirn, die Nieren, die Lunge, das Auge und das Herz betreffen und mit neuropsychiatrischen Störungen einhergehen."},"es":{"name":"Complejo esclerosis tuberosa","synonyms":["Esclerosis tuberosa","Síndrome de Bourneville"],"definition":"Es un trastorno neurocutáneo poco frecuente caracterizado por hamartomas multisistémicos que afectan mayoritariamente a la piel, cerebro, riñones, pulmones, ojos y corazón, y que se asocia a trastornos neuropsiquiátricos."},"it":{"name":"Complesso della sclerosi tuberosa","synonyms":["Sclerosi tuberosa","Sindrome di Bourneville"],"definition":"Il complesso della sclerosi tuberosa (TSC) è una malattia neurocutanea rara, caratterizzata da amartomi multisistemici, che interessano per lo più la cute, il cervello, i reni, i polmoni, gli occhi e il cuore, associati a disturbi neuropsichiatrici."},"nl":{"name":"Tubereuze sclerose complex","synonyms":["Syndroom van Bourneville","Tubereuze sclerose"],"definition":"Een zeldzame neurocutane aandoening, gekenmerkt door multisystemische hamartomen, doorgaans met betrokkenheid van huid, hersenen, nier, long, oog en hart, en geassocieerd met neuropsychiatrische aandoeningen."},"pt":{"name":"Complexo esclerose tuberosa","synonyms":["Síndrome Bourneville"],"definition":"Doença neurocutânea rara caracterizada por hamartomas multissistémicos, habitualmente com manifestações na pele, cérebro, rins, pulmões, olhos e coração, e associa-se a distúrbios neuropsiquiátricos."},"pl":{"name":"Zespół stwardnienia guzowatego","synonyms":["Stwardnienie guzowate","Zespół Bourneville'a"]},"cs":{"name":"Komplex tuberózní sklerózy","synonyms":["Tuberózní skleróza","Bournevillův syndrom"]},"uk":{"name":"Комплекс туберозного склерозу","synonyms":["Синдром Борневіля","Туберозний склероз"],"definition":"A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders."},"zh":{"name":"复合型结节性硬化病","synonyms":["Bourneville综合征"]},"tr":{"name":"Tuberoskleroz kompleksi","synonyms":["Tüberoskleroz","Bourneville sendromu"]}},"xrefs":[{"source":"OMIM","code":"191100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613254","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD2D.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1903085809"},{"source":"MONDO","code":"0001734","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014402","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0041341","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7830","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080584","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":166466,"name":"Neurocutaneous syndrome with epilepsy","classifications":[156,181]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"TSC1","name":"TSC complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301399[PMID]","hgnc":"12362","ensembl":"ENSG00000165699","omim":"605284","loci":["9q34.13"]},{"symbol":"TSC2","name":"TSC complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301399[PMID]","hgnc":"12363","ensembl":"ENSG00000103197","omim":"191092","loci":["16p13.3"]},{"symbol":"IFNG","name":"interferon gamma","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"12192641[PMID]","hgnc":"5438","ensembl":"ENSG00000111537","omim":"147570","loci":["12q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.58,"area":"Taiwan, Province of China","status":"Validated","source":"34344419[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.62,"area":"Germany","status":"Validated","source":"30016967[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.45,"area":"United Kingdom","status":"Validated","source":"16700943[PMID]_18456692[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.87,"area":"Hong Kong","status":"Validated","source":"32988393[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.38,"area":"Sweden","status":"Validated","source":"29078087[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-30","source":"20301399[PMID]_31964424[PMID]","terms":[{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009717","label":"Cortical tubers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009719","label":"Hypomelanotic macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009716","label":"Subependymal nodules","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010615","label":"Angiofibromas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009729","label":"Cardiac rhabdomyoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040030","label":"Chorioretinal hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007449","label":"Confetti-like hypopigmented macules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012798","label":"Pulmonary lymphangiomyomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008762","label":"Repetitive compulsive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009594","label":"Retinal hamartoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009721","label":"Shagreen patch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200040","label":"Epidermoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001407","label":"Hepatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010953","label":"Noncommunicating hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006772","label":"Renal angiomyolipoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009718","label":"Subependymal giant-cell astrocytoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100804","label":"Ungual fibroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011029","label":"Internal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030405","label":"Pancreatic endocrine tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008208","label":"Parathyroid hyperplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012778","label":"Retinal astrocytic hamartoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null}]}}