{"orpha":63,"name":"Alport syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alport deafness-nephropathy","Alport hearing loss-nephropathy"],"definition":"A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-63/","orphanet_url":"https://www.orpha.net/en/disease/detail/63","names":{"fr":{"name":"Syndrome d'Alport","synonyms":["Syndrome de surdité-néphropathie"],"definition":"Maladie rénale rare caractérisée par une néphropathie glomérulaire associée à une hématurie évoluant vers une insuffisance rénale, dite terminale (IRT), une surdité de perception et, dans certains cas, à des anomalies oculaires."},"de":{"name":"Alport-Syndrom","synonyms":["Nephropathie-Taubheit-Syndrom"],"definition":"Eine seltene Nierenerkrankung, die durch eine glomeruläre Nephropathie mit Hämaturie gekennzeichnet ist und zu einer Nierenerkrankung im Endstadium (ESRD) führt, die häufig mit einer sensorineuralen Taubheit und gelegentlich mit Augenanomalien einhergeht."},"es":{"name":"Síndrome de Alport","synonyms":["Hipoacusia-nefropatía de Alport","Sordera-nefropatía de Alport"],"definition":"Es una enfermedad renal poco frecuente caracterizada por nefropatía glomerular con hematuria que evoluciona a enfermedad renal terminal (ERT) y que asocia, por lo general, pérdida auditiva neurosensorial y, ocasionalmente, anomalías oculares."},"it":{"name":"Sindrome di Alport","synonyms":["Sordità - nefropatia di Alport"],"definition":"La sindrome di Alport (AS) è una malattia renale rara caratterizzata da nefropatia glomerulare con ematuria, che progredisce verso la malattia renale terminale (ESRD), spesso associata a sordità neurosensoriale e, occasionalmente, ad anomalie oculari."},"nl":{"name":"Syndroom van Alport","synonyms":["Alport-doofheid - nefropathie","Alport-gehoorverlies - nefropathie"],"definition":"Een zeldzame nierziekte, gekarakteriseerd door glomerulaire nefropathie met hematurie die evolueert tot terminaal nierfalen (ESRD), vaak geassocieerd met sensorineurale doofheid, en soms met ooganomalieën."},"pt":{"name":"Síndrome Alport","definition":"Doença renal rara caracterizada por nefropatia glomerular com hematúria, que progride para doença renal terminal (DRT), frequentemente associada a surdez neurossensorial e, ocasionalmente, a anomalias oculares."},"pl":{"name":"Zespół Alporta","synonyms":["Głuchota Alporta - nefropatia"],"definition":"Rzadka choroba nerek charakteryzująca się nefropatią kłębuszkową z krwiomoczem, które mogą prowadzić do schyłkowej niewydolności nerek. Często jest powiązaną z głuchotą odbiorczą, a czasami z wadami oczu."},"cs":{"name":"Alportův syndrom","synonyms":["Alportův syndrom s hluchotou a nefropatií"]},"uk":{"name":"Синдром Альпорта","synonyms":["Глухота-нефропатія Альпорта","Втрата слуху - нефропатія Альпорта"],"definition":"A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies."},"zh":{"name":"Alport综合征","synonyms":["Alport听力丧失-肾病"]},"tr":{"name":"Alport sendromu","synonyms":["Alport sağırlık-nefropati","Alport işitme kaybı-nefropati"]}},"xrefs":[{"source":"OMIM","code":"104200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"203780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1170919425"},{"source":"MONDO","code":"0018965","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1567741","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5785","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001843","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":544590,"name":"Collagen-related glomerular basement membrane disease","classifications":[156,188,233]},{"orpha":98655,"name":"Lens shape anomaly","classifications":[147,156,189]},{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98646,"name":"Renal disease with cataract","classifications":[156,189]}],"children":[{"orpha":88918,"name":"Autosomal dominant Alport syndrome","type":"Clinical subtype"},{"orpha":88919,"name":"Autosomal recessive Alport syndrome","type":"Clinical subtype"},{"orpha":653722,"name":"Digenic Alport syndrome","type":"Clinical subtype"},{"orpha":88917,"name":"X-linked Alport syndrome","type":"Clinical subtype"},{"orpha":1018,"name":"X-linked Alport syndrome-diffuse leiomyomatosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"COL4A3","name":"collagen type IV alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301386[PMID]","hgnc":"2204","ensembl":"ENSG00000169031","omim":"120070","loci":["2q36.3"],"via":{"orpha":88918,"name":"Autosomal dominant Alport syndrome"}},{"symbol":"COL4A3","name":"collagen type IV alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301386[PMID]","hgnc":"2204","ensembl":"ENSG00000169031","omim":"120070","loci":["2q36.3"],"via":{"orpha":88919,"name":"Autosomal recessive Alport syndrome"}},{"symbol":"COL4A3","name":"collagen type IV alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"5675912[PMID]_34930753[PMID]_35547199[PMID]","hgnc":"2204","ensembl":"ENSG00000169031","omim":"120070","loci":["2q36.3"],"via":{"orpha":653722,"name":"Digenic Alport syndrome"}},{"symbol":"COL4A4","name":"collagen type IV alpha 4 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9269635[PMID]_20301386[PMID]_15086897[PMID]_11572889[PMID]_19129241[PMID]","hgnc":"2206","ensembl":"ENSG00000081052","omim":"120131","loci":["2q36.3"],"via":{"orpha":88918,"name":"Autosomal dominant Alport syndrome"}},{"symbol":"COL4A4","name":"collagen type IV alpha 4 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301386[PMID]","hgnc":"2206","ensembl":"ENSG00000081052","omim":"120131","loci":["2q36.3"],"via":{"orpha":88919,"name":"Autosomal recessive Alport syndrome"}},{"symbol":"COL4A4","name":"collagen type IV alpha 4 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"5675912[PMID]_34930753[PMID]_35547199[PMID]","hgnc":"2206","ensembl":"ENSG00000081052","omim":"120131","loci":["2q36.3"],"via":{"orpha":653722,"name":"Digenic Alport syndrome"}},{"symbol":"COL4A5","name":"collagen type IV alpha 5 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301386[PMID]","hgnc":"2207","ensembl":"ENSG00000188153","omim":"303630","loci":["Xq22.3"],"via":{"orpha":88917,"name":"X-linked Alport syndrome"}},{"symbol":"COL4A5","name":"collagen type IV alpha 5 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"5675912[PMID]_34930753[PMID]_35547199[PMID]","hgnc":"2207","ensembl":"ENSG00000188153","omim":"303630","loci":["Xq22.3"],"via":{"orpha":653722,"name":"Digenic Alport syndrome"}},{"symbol":"COL4A5","name":"collagen type IV alpha 5 chain","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20951201[PMID]","hgnc":"2207","ensembl":"ENSG00000188153","omim":"303630","loci":["Xq22.3"],"via":{"orpha":1018,"name":"X-linked Alport syndrome-diffuse leiomyomatosis"}},{"symbol":"COL4A6","name":"collagen type IV alpha 6 chain","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20951201[PMID]","hgnc":"2208","ensembl":"ENSG00000197565","omim":"303631","loci":["Xq22.3"],"via":{"orpha":1018,"name":"X-linked Alport syndrome-diffuse leiomyomatosis"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Finland","status":"Validated","source":"8955456[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-04-29","source":"20301386[PMID]_30212818[PMID]_30128941[PMID]_27281700[PMID]_37122389[PMID]_33854215[PMID]","terms":[{"hpo":"HP:0030034","label":"Glomerular basement membrane lamellation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012574","label":"Mesangial hypercellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012045","label":"Retinal flecks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012577","label":"Thin glomerular basement membrane","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011488","label":"Abnormal corneal endothelium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011501","label":"Anterior lenticonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000495","label":"Recurrent corneal erosions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032583","label":"Renal glomerular foam cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025005","label":"Thickening of glomerular capillary wall","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004722","label":"Thickening of the glomerular basement membrane","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005576","label":"Tubulointerstitial fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006756","label":"Diffuse leiomyomatosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410019","label":"Epigastric pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002837","label":"Recurrent bronchitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}