{"orpha":347,"name":"Frasier syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-347/","orphanet_url":"https://www.orpha.net/en/disease/detail/347","names":{"fr":{"name":"Syndrome de Frasier","definition":"Néphropathie glomérulaire syndromique rare, caractérisée par l'association d'une néphropathie glomérulaire évolutive et d'une dysgénésie gonadique complète chez un sujet de caryotype 46,X/Y, avec un risque élevé de survenue de gonadoblastome."},"de":{"name":"Frasier-Syndrom","definition":"Das Frasier-Syndrom ist gekennzeichnet durch die Kombination einer progressiven glomerulären Nephropathie und einer kompletten 46,XY-Gonadendysgenesie mit einem hohen Risiko für die Entwicklung eines Gonadoblastoms."},"es":{"name":"Síndrome de Frasier","definition":"Es un trastorno glomerular sindrómico poco frecuente y de origen genético caracterizado por la asociación de nefropatía glomerular progresiva y disgenesia gonadal completa 46,XY con un riesgo elevado de desarrollar gonadoblastoma."},"it":{"name":"Sindrome di Frasier","definition":"La sindrome di Frasier è una glomerulopatia sindromica genetica rara, caratterizzata da nefropatia glomerulare progressiva e disgenesia gonadica completa con cariotipo 46,XY, associata a un rischio elevato di gonadoblastoma."},"nl":{"name":"Syndroom van Frasier","definition":"Een zeldzame, genetische, syndromale glomerulaire aandoening, gekarakteriseerd door de associatie van progressieve glomerulaire nefropathie en 46,XY volledige gonadale dysgenesie met een hoog risico op ontwikkeling van gonadoblastoom."},"pt":{"name":"Síndrome Frasier"},"pl":{"name":"Zespół Frasiera"},"cs":{"name":"Frasierův syndrom"},"uk":{"name":"Синдром Фрейзера","definition":"A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma."},"zh":{"name":"Frasier综合征"},"tr":{"name":"Frasier sendromu"}},"xrefs":[{"source":"OMIM","code":"136680","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N04.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1659542949"},{"source":"MONDO","code":"0007635","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D052159","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0950122","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2375","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25623218[PMID]","hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_25623218[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]_25623218[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-03","source":"15973330[PMID]_3130865[PMID]_9398852[PMID]_20595692[PMID]_22815844[PMID]_25613702[PMID]_10490448[PMID]_12050205[PMID]_1329488[PMID]_9090524[PMID]","terms":[{"hpo":"HP:0000033","label":"Ambiguous genitalia, male","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008723","label":"Gonadal dysgenesis with female appearance, male","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000150","label":"Gonadoblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null}]}}