autosomal dominant Alport syndrome
Findings
No curated finding names autosomal dominant Alport syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.
Definition from the Mondo Disease Ontology (MONDO:0007086), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
12 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.
- Microscopic hematuriaHPOHP:0002907
- 7 of 7 reported patients
- ProteinuriaHPOHP:0000093
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Very frequent (80% to 99% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Multiple renal cystsHPOHP:0005562
- Frequent (30% to 79% of cases)
- Macroscopic hematuria
Genes
2 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: autosomal dominant Alport syndrome
- Also called
- Alport syndrome 3, autosomal dominantAlport syndrome, autosomal dominant