Details of Disease | DrugMAP

General Information of Disease (ID: DIS3C9XZ)

Disease Name	Familial renal glucosuria
Synonyms	renal glycosuria; GLYS; Glys1; glycosuria, renal; renal glucosuria; Renal Glycosuria; renal diabetes; SGLT2 deficiency; familial renal glucosuria
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).
Disease Hierarchy	DIS8TFL1: Glucose transport disorder DISBGF8S: Renal tubular transport disease DISNCQLA: Inherited kidney disorder DIS3C9XZ: Familial renal glucosuria
Disease Identifiers	MONDO ID MONDO_0009297 MESH ID D006030 UMLS CUI C3245525 OMIM ID 233100 MedGen ID 757652 Orphanet ID 69076 SNOMED CT ID 226309007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC5A1	TT2UE56	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC5A2	DTKNH2D	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC5A2	OT93UUDI	Strong	Autosomal dominant	[2]
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References

1	Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.Clin J Am Soc Nephrol. 2010 Jan;5(1):133-41. doi: 10.2215/CJN.04010609. Epub 2009 Nov 5.
2	Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. Exp Ther Med. 2016 Aug;12(2):649-652. doi: 10.3892/etm.2016.3388. Epub 2016 May 25.