Alport syndrome
Findings
No curated finding names Alport syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018965), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Glomerular basement membrane lamellationHPOHP:0030034
- Very frequent (80% to 99% of cases)
- HematuriaHPOHP:0000790
- Very frequent (80% to 99% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Mesangial hypercellularityHPOHP:0012574
- Frequent (30% to 79% of cases)
- ProteinuriaHPOHP:0000093
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Retinal flecksHPOHP:0012045
- Frequent (30% to 79% of cases)
- Stage 5 chronic kidney diseaseHPOHP:0003774
- Frequent (30% to 79% of cases)
- Thin glomerular basement membraneHPOHP:0012577
- Frequent (30% to 79% of cases)
- Abnormal corneal endothelium morphologyHPOHP:0011488
- Occasional (5% to 29% of cases)
Show the remaining 22
- Anterior lenticonusHPOHP:0011501
- Occasional (5% to 29% of cases)
- Corneal erosionHPOHP:0200020
- Occasional (5% to 29% of cases)
- EdemaHPOHP:0000969
- Occasional (5% to 29% of cases)
- Focal segmental glomerulosclerosisHPOHP:0000097
- Occasional (5% to 29% of cases)
- Microscopic hematuriaHPOHP:0002907
- Occasional (5% to 29% of cases)
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
2 names
Resolves to: Alport syndrome
- Also called
- Alport deafness-nephropathyAlport's syndrome