familial renal glucosuria
Findings
No curated finding names familial renal glucosuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).
Definition from the Mondo Disease Ontology (MONDO:0009297), read 2026-09-29. CC BY 4.0.
Features
7 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.
- GlycosuriaHPO · MondoHP:0003076
- Obligate (100% of cases)
- NephropathyHPOHP:0000112
- Obligate (100% of cases)
- Renal tubular dysfunctionHPOHP:0000124
- Obligate (100% of cases)
- DehydrationHPOHP:0001944
- Occasional (5% to 29% of cases)
- KetosisHPOHP:0001946
- Occasional (5% to 29% of cases)
- Moderate postnatal growth retardationHPOHP:0008855
- Occasional (5% to 29% of cases)
- Recurrent urinary tract infectionsHPO
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.
- SLC5A2HGNC:11037
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: familial renal glucosuria
- Also called
- Renal GlycosuriaSGLT2 deficiency