Alport syndrome 3b, autosomal recessive
MONDO:0957811Mondo
Findings
No curated finding names Alport syndrome 3b, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
10 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
- 6 of 6 reported patients
- ProteinuriaHPOHP:0000093
- 3 of 3 reported patients
- Renal insufficiencyHPOHP:0000083
- 6 of 6 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 6 reported patients
- AlbuminuriaHPOHP:0012592
- 1 of 6 reported patients
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 1 of 6 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 6 reported patients
- Nephrotic syndromeHPOHP:0000100
- 1 of 6 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 6 reported patients
- Thin glomerular basement membraneHPOHP:0012577
- 1 of 6 reported patients
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.
- COL4A3HGNC:2204
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · G2P · Autosomal dominant · 2025
Where it sits
- A kind of