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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Bartter disease +   
Dent disease +   
Donnai-Barrow syndrome  
Familial Azotemia 
Familial Hypophosphatemia +   
Familial Renal Hypouricemia due to Tubular Hypersecretion  
Fanconi syndrome +   
Gitelman syndrome  
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial  
Hypomagnesemia, Seizures, and Mental Retardation +   
hypophosphatemic nephrolithiasis/osteoporosis 2  
Hypouricemia, Hypercalcinuria, and Decreased Bone Density 
Iminoglycinuria  
Liddle syndrome +   
oculocerebrorenal syndrome +   
pseudohypoaldosteronism +   
Renal Aminoacidurias +   
renal glycosuria +   
An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.
renal hypomagnesemia 2  
renal hypomagnesemia 4  
renal hypomagnesemia 5 with ocular involvement  
renal hypomagnesemia 6  
Renal Hypouricemia  
Renal Hypouricemia, 2  
renal tubular acidosis +   
X-linked nephrolithiasis type I  

Synonyms
Exact Synonyms: GLYS ;   GLYS1 ;   renal diabetes ;   renal glucosuria
Primary IDs: MESH:D006030
Alternate IDs: OMIM:233100
Xrefs: GARD:7548 ;   ICD10CM:E74.8 ;   ICD9CM:271.4
Definition Sources: MESH:D006030

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.