Dent disease type 2
Findings
No curated finding names Dent disease type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.
Definition from the Mondo Disease Ontology (MONDO:0010359), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive 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.
- HypercalciuriaHPOHP:0002150
- 5 of 5 reported patients
- Low-molecular-weight proteinuriaHPOHP:0003126
- 5 of 5 reported patients
- Mild global developmental delayHPOHP:0011342
- 3 of 4 reported patients
- HypophosphatemiaHPOHP:0002148
- 3 of 5 reported patients
- AminoaciduriaHPOHP:0003355
- 2 of 5 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 5 reported patients
- Elevated circulating aspartate aminotransferase concentration
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.
- OCRLHGNC:8108
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · Laboratory for Molecular Medicine · X-linked · 2020
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Dent disease type 2
- Also called
- dent disease 2, X-linked recessiveDent disease caused by mutation in OCRLnephrolithiasis type 2OCRL Dent disease