{"orpha":88918,"name":"Autosomal dominant Alport syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Alport syndrome","url":"https://raremap.alftech.space/d/ORPHA-88918/","orphanet_url":"https://www.orpha.net/en/disease/detail/88918","names":{"fr":{"name":"Syndrome d'Alport autosomique dominant"},"de":{"name":"Alport-Syndrom, autosomal-dominantes"},"es":{"name":"Síndrome de Alport tipo dominante"},"it":{"name":"Sindrome di Alport, tipo autosomico dominante"},"nl":{"name":"Autosomaal dominant syndroom van Alport"},"pt":{"name":"Síndrome Alport tipo dominante"},"pl":{"name":"Autosomalny dominujący zespół Alporta"},"cs":{"name":"Autozomálně dominantní Alportův syndrom"},"uk":{"name":"Аутосомно-домінантний синдром Альпорта"},"zh":{"name":"常染色体显性遗传性Alport综合征"},"tr":{"name":"Otozomal dominant Alport sendromu"}},"xrefs":[{"source":"OMIM","code":"104200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1818228669"},{"source":"MONDO","code":"0007086","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536586","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1567743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"624","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":63,"name":"Alport syndrome","classifications":[147,156,188,189,200,233]}],"children":[],"genes":[{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-05-04","source":"27281700[PMID]_33838161[PMID]_19129241[PMID]_38178635[PMID]","terms":[{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000495","label":"Recurrent corneal erosions","frequency":"Very rare (<4-1%)","criteria":null}]}}