X-linked Alport syndrome
MONDO:0010520Mondo
Findings
No curated finding names X-linked Alport syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked form of Alport syndrome.
Definition from the Mondo Disease Ontology (MONDO:0010520), read 2026-09-29. CC BY 4.0.
Features
20 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.
- Reduced epidermal collagen IV alpha 5 chain stainingHPOHP:6001026
- 183 of 207 reported patients
- Microscopic hematuriaHPOHP:0002907
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Anterior lenticonusHPOHP:0011501
- Frequent (30% to 79% of cases)
- Focal retinal arteriolar constrictionHPOHP:0008043
- Frequent (30% to 79% of cases)
- Glomerular basement membrane lamellationHPOHP:0030034
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Macroscopic hematuriaHPOHP:0012587
- Frequent (30% to 79% of cases)
- Multiple renal cystsHPOHP:0005562
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Retinal hemorrhageHPOHP:0000573
- Frequent (30% to 79% of cases)
Show the remaining 8
- Stage 5 chronic kidney diseaseHPOHP:0003774
- Frequent (30% to 79% of cases)
- AstigmatismHPOHP:0000483
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Hypertensive retinopathyHPOHP:0001095
- Occasional (5% to 29% of cases)
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
- Retinal flecksHPOHP:0012045
- Occasional (5% to 29% of cases)
Genes
1 gene
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.
- COL4A5HGNC:2207
- Definitive · Myriad Women's Health · X-linked · 2018
- Definitive · Natera · X-linked · 2023
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: X-linked Alport syndrome
- Also called
- Alport syndrome 1, X-linked, X-linked dominantAlport syndrome, X-linkednephropathy and deafness, X-linked