{"orpha":3327,"name":"Thyrocerebrorenal syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Cutler-Bass-Romshe syndrome"],"definition":"A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3327/","orphanet_url":"https://www.orpha.net/en/disease/detail/3327","names":{"fr":{"name":"Syndrome thyro-cérébro-rénal","synonyms":["Syndrome de Cutler-Bass-Romshe"],"definition":"Maladie rénale syndromique rare caractérisée par une atteinte rénale, neurologique et thyroïdienne, associée à une thrombocytopénie. Aucun cas n'a été décrit dans la littérature depuis 1978."},"de":{"name":"Thyreo-zerebro-renales Syndrom","synonyms":["Cutle-Bass-Romshe-Syndrom"],"definition":"Eine seltene syndromale Nierenerkrankung. die charakterisiert ist durch Störungen der Nieren und der Schilddrüse, durch neurologische Probleme und Thrombozytopenie. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome tiroide-cerebro-renal","synonyms":["Síndrome de Cutler-Bass-Romshe"],"definition":"Es un trastorno renal sindrómico poco frecuente caracterizado por enfermedad renal, neurológica y tiroidea asociada a trombocitopenia. No ha habido más casos descritos en la literatura desde 1978."},"it":{"name":"Sindrome tireo-cerebro-renale","synonyms":["Sindrome di Cutler-Bass-Romshe"],"definition":"Si tratta di una nefropatia sindromica rara, caratterizzata da malattia renale, neurologica e tiroidea, associate a trombocitopenia. Non sono stati descritti nuovi casi dopo il 1978."},"nl":{"name":"Thyrocerebrorenaal syndroom","synonyms":["Syndroom van Cutler-Bass-Romshe"],"definition":"Een zeldzame, syndromale nierstoornis gekarakteriseerd door nier-, neurologische en schildklierziekte, geassocieerd met trombocytopenie. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome tireo-cerebro-renal","synonyms":["Síndrome Cutler-Bass-Romshe"]},"pl":{"name":"Zespół tarczycowo-mózgowo-nerkowy","synonyms":["Zespół Cutlera, Bassa i Romshe'a"]},"cs":{"name":"Thyrocerebrorenální syndrom","synonyms":["Cutlerův-Bassův-Romsheův syndrom","Cutler-Bass-Romsheův syndrom"]},"uk":{"name":"Тироцереброренальний синдром","synonyms":["Синдром Катлера-Басса-Ромше"],"definition":"A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978."},"zh":{"name":"甲状腺-脑-肾综合征","synonyms":["Cutler-Bass-Romshe综合征"]},"tr":{"name":"Tiroserebrorenal sendrom","synonyms":["Cutler-Bass-Romshe sendromu"]}},"xrefs":[{"source":"OMIM","code":"274240","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010128","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518579","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1646","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"728567[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_728567[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-30","source":"728567[PMID]","terms":[{"hpo":"HP:0009127","label":"Abnormality of the musculature of the limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009798","label":"Euthyroid goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002470","label":"Nonprogressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}