{"orpha":88917,"name":"X-linked 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-88917/","orphanet_url":"https://www.orpha.net/en/disease/detail/88917","names":{"fr":{"name":"Syndrome d'Alport lié à l'X"},"de":{"name":"Alport-Syndrom, X-chromosomales"},"es":{"name":"Síndrome de Alport ligado al cromosoma X"},"it":{"name":"Sindrome di Alport legata all'X"},"nl":{"name":"X-gebonden syndroom van Alport"},"pt":{"name":"Síndrome Alport ligada ao X"},"pl":{"name":"Zespół Alporta sprzężony z chromosomem X"},"cs":{"name":"X-vázaný Alportův syndrom"},"uk":{"name":"Х-зчеплений синдром Альпорта"},"zh":{"name":"X连锁Alport综合征"},"tr":{"name":"X'e bağlı Alport sendromu"}},"xrefs":[{"source":"OMIM","code":"301050","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":"1618884033"},{"source":"MONDO","code":"0010520","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1567742","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":"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"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.25,"area":"Sweden","status":"Validated","source":"16114783[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-05-05","source":"38178635[PMID]_37100867[PMID]_33748275[PMID]_33330536[PMID]_21380623[PMID]_20378821[PMID]_30985254[PMID]","terms":[{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011501","label":"Anterior lenticonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030034","label":"Glomerular basement membrane lamellation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008043","label":"Retinal arteriolar constriction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001095","label":"Hypertensive retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012045","label":"Retinal flecks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011508","label":"Macular hole","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very rare (<4-1%)","criteria":null}]}}