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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Bartter syndrome +  
congenital anomaly of kidney and urinary tract +  
Dent disease +  
distal renal tubular acidosis +  
encephalopathy due to GLUT1 deficiency 
familial cystic renal disease +  
familial juvenile hyperuricemic nephropathy +  
familial nephrotic syndrome +  
familial renal glucosuria 
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).
Fanconi renotubular syndrome +  
fibronectin glomerulopathy +  
Gitelman syndrome 
glucose-galactose malabsorption 
hereditary kidney oncocytoma 
hereditary nephritis +   
hereditary renal cell carcinoma +  
hereditary Wilms tumor +  
hypophosphatemic nephrolithiasis/osteoporosis 1 
hypophosphatemic nephrolithiasis/osteoporosis 2 
inherited focal segmental glomerulosclerosis +  
inherited pseudohypoaldosteronism +  
inherited renal tubular disease +  
Liddle syndrome +  
nail-patella-like renal disease 
nephrolithiasis, calcium oxalate +  
neurohypophyseal diabetes insipidus 
prune belly syndrome 
pseudohypoaldosteronism +  
renal agenesis +   
renal hypomagnesemia 3 
renal tubular acidosis +  
renal tubular dysgenesis of genetic origin 

Synonyms
Exact Synonyms: DOID:9432 ;   Orphanet:69076 ;   SGLT2 deficiency ;   http://identifiers.org/medgen/757652 ;   http://identifiers.org/mesh/D006030 ;   http://identifiers.org/snomedct/267430007 ;   http://linkedlifedata.com/resource/umls/id/C3245525 ;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/381783069 ;   https://omim.org/entry/233100 ;   renal diabetes
Synonyms: http://identifiers.org/meddra/10038457
Related Synonyms: GLYS ;   Glys1 ;   renal glucosuria ;   renal glycosuria
Alternate IDs: MONDO:0009297
Xrefs: DOID:9432 ;   GARD:7548 ;   ICD9:271.4 ;   MEDGEN:757652 ;   MESH:D006030 ;   MIM:233100 ;   MedDRA:10038457 ;   NORD:1658 ;   ORDO:69076 ;   SCTID:267430007
see_also: https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria" xsd:anyURI {source="GARD:0007548
Definition Sources: Orphanet:69076

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