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Details
Link-It Detail - Disease - Glycosuria, Renal
Debug Stats
  • ### Total Build Time: 28 ms 24.502 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 1.635 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Glycosuria, Renal C0017980
Definition (1)
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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Renal Tubular Transport, Inborn Errors C0035091
img Glycosuria C0017979
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Renal Tubular Transport, Inborn Errors C0035091
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Renal Tubular Transport, Inborn Errors C0035091
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Renal Tubular Transport, Inborn Errors C0035091
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Renal Tubular Transport, Inborn Errors C0035091
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Glycosuria C0017979
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Glycosuria C0017979
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Glycosuria C0017979
Relationships (22)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 19
diso_​to_​phen : 1


Relationships:
none : 2
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
isa : 3
manifestation_​of : 7
mapped_​to : 5
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_CHEM7img Monosaccharide Transport Proteins C0026491
DISO_to_CHEMassociated_withimg Glucose C0017725
DISO_to_DISOmanifestation_ofimg Caused by mutation in the solute carrier family 5 (sodium/glucose cotransporter), member 2 gene (SLC5A2, 182381.0001) C3278314
DISO_to_DISOmanifestation_ofimg Extracellular volume depletion (rare, in severe cases only) C3278313
DISO_to_DISOisaimg Familial renal glucosuria C3245525
DISO_to_DISOmapped_toimg GTT = renal glycosuria C0438273
DISO_to_DISOused_forimg Glycosuria C0017979
DISO_to_DISOisaimg Glycosuria during pregnancy C0403496
DISO_to_DISOexpanded_form_ofimg Glycosuria, Renal C0017980
DISO_to_DISOisaimg Low renal threshold for glucose C0403502
DISO_to_DISOclassifiesimg Other and unspecified metabolic; nutritional; and endocrine disorders C0810255
DISO_to_DISOclassifiesimg Other endo metab nutri disease C0497409
DISO_to_DISOmanifestation_ofimg Patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations C3278315
DISO_to_DISOmanifestation_ofimg Polydipsia (in some) C3278316
DISO_to_DISOmanifestation_ofimg Polyuria (in some) C3278312
DISO_to_DISOmanifestation_ofimg Renal glucose wasting C3278311
DISO_to_DISOmapped_toimg Renal glucosuria, type A C0268188
DISO_to_DISOmapped_toimg Renal glucosuria, type B C0268189
DISO_to_DISOmapped_toimg Renal glucosuria, type O C0268190
DISO_to_DISOmapped_toimg Renal glycinuria, Kaiser type C1268583
DISO_to_DISOmanifestation_ofimg Variable severity C1836143
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSLC5A26524solute carrier family 5 (sodium/glucose cotransporter), member 2
img GENERIF, Score=818, Pubmed Id: 15610225, UMLKSK CUI: C0017980
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0017980Glycosuria, Renal0self