{"orpha":88919,"name":"Autosomal recessive 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-88919/","orphanet_url":"https://www.orpha.net/en/disease/detail/88919","names":{"fr":{"name":"Syndrome d'Alport autosomique récessif"},"de":{"name":"Alport-Syndrom, autosomal-rezessives"},"es":{"name":"Síndrome de Alport tipo recesivo"},"it":{"name":"Sindrome di Alport, tipo autosomico recessivo"},"nl":{"name":"Autosomaal recessief syndroom van Alport","synonyms":["Glomerulair basaal membraanziekte door een COL4A-mutatie"]},"pt":{"name":"Síndrome Alport tipo recessivo"},"pl":{"name":"Autosomalny recesywny zespół Alporta"},"cs":{"name":"Autozomálně recesivní Alportův syndrom"},"uk":{"name":"Аутосомно-рецесивний синдром Альпорта"},"zh":{"name":"常染色体隐性遗传Alport综合征"},"tr":{"name":"Otozomal resesif Alport sendromu"}},"xrefs":[{"source":"OMIM","code":"203780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620536","qualifier":"BTNT","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":"2017308985"},{"source":"MONDO","code":"0008762","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536587","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1567744","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"625","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":"20301386[PMID]","hgnc":"2206","ensembl":"ENSG00000081052","omim":"120131","loci":["2q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-05-05","source":"30985254[PMID]_24052634[PMID]_30717457[PMID]_24633401[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:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008043","label":"Retinal arteriolar constriction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001142","label":"Lenticonus","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:0011501","label":"Anterior lenticonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001095","label":"Hypertensive retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012045","label":"Retinal flecks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000523","label":"Subcapsular cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very rare (<4-1%)","criteria":null}]}}