Dent disease type 1
MONDO:0010225Mondo
Findings
No curated finding names Dent disease type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.
Definition from the Mondo Disease Ontology (MONDO:0010225), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- HypercalciuriaHPOHP:0002150
- 20 of 28 reported patients
- Low-molecular-weight proteinuriaHPOHP:0003126
- 10 of 28 reported patients
- Kidney stoneHPOHP:0000787
- 9 of 28 reported patients
- NephrocalcinosisHPOHP:0000121
- 9 of 28 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 28 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.
- CLCN5HGNC:2023
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2022
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Dent disease type 1
- Also called
- CLCN5 Dent diseasedent disease 1, X-linked recessiveDent disease caused by mutation in CLCN5nephrolithiasis type 1