MCID: RNL006
MIFTS: 41

Renal Glycosuria malady

Nephrological, Metabolic, Genetic categories

Summaries for Renal Glycosuria

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Renal glycosuria is a rare condition in which the simple sugar glucose is excreted in the urine despite normal or low blood glucose levels. with normal kidney function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. however, in those with renal glycosuria, glucose is abnormally eliminated in the urine due to improper functioning of the renal tubules, which are the primary components of the filtering units of the kidneys. in most affected individuals, the condition causes no apparent symptoms or serious effects. when renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited as an autosomal recessive trait. last updated: 7/7/2011

MalaCards: Renal Glycosuria, also known as renal glucosuria, is related to micro syndrome and cataract microcornea syndrome. An important gene associated with Renal Glycosuria is SLC5A2 (solute carrier family 5 (sodium/glucose cotransporter), member 2), and among its related pathways are Sodium channels and transporters: inward current and MPS IIIC - Sanfilippo syndrome C. The compounds sergliflozin and remogliflozin have been mentioned in the context of this disorder. Affiliated tissues include kidney and pituitary, and related mouse phenotype renal/urinary system.

Wikipedia:64 Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose... more...

Description from OMIM:47 233100

Aliases & Classifications for Renal Glycosuria

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Nephrological, Metabolic


Characteristics (Orphanet epidemiological data):

49
renal glucosuria:
Inheritance: Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

renal glycosuria 8 43 10
renal glucosuria 43 20 47 49
familial renal glucosuria 49 61
glycosuria, renal 61
sglt2 deficiency 49
renal diabetes 8
diabetes renal 45


External Ids:

Disease Ontology8 DOID:9432
MeSH35 D006030
ICD9CM27 271.4
OMIM47 233100
ICD10 via Orphanet26 E74.8

Related Diseases for Renal Glycosuria

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Renal Glycosuria:



Diseases related to renal glycosuria

Clinical Features for Renal Glycosuria

Sources:
47OMIM
See all sources

Clinical features from OMIM:

233100

Clinical synopsis from OMIM:

233100

Drugs & Therapeutics for Renal Glycosuria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Renal Glycosuria

Drug clinical trials:

Search ClinicalTrials for Renal Glycosuria

Search NIH Clinical Center for Renal Glycosuria

Search CenterWatch for Renal Glycosuria

Genetic Tests for Renal Glycosuria

Sources:
20GeneTests
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Genetic tests related to Renal Glycosuria:

id Genetic test Affiliating Genes
1 Renal Glucosuria20 SLC5A2

Anatomical Context for Renal Glycosuria

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Renal Glycosuria:

33
Kidney, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Renal Glycosuria:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Renal Glycosuria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Renal Glycosuria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9SLC5A2, SLC5A1, CLCNKA

Publications for Renal Glycosuria

Sources:
51PubMed
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Articles related to Renal Glycosuria:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Pregnancy-associated polyuria in familial renal glycosuria. (23871407)
2013
2
Reversible renal glycosuria in acute interstitial nephritis. (22929613)
2012
3
Renal glycosuria: occurrence in two siblings and a review of the literature. (16291355)
2005
4
Transient renal glycosuria in a patient with acute pyelonephritis. (11446678)
2001
5
Renal glycosuria treated as diabetes mellitus: case report. (9557451)
1997
6
Abnormal blood glucose and insulin response during oral glucose tolerance test in familial renal glycosuria. (9399067)
1997
7
Hypercalciuria in children with renal glycosuria: evidence of dual renal tubular reabsorptive defects. (1432419)
1992
8
Renal diabetes (primary renal glycosuria): a short overview. (3327302)
1987
9
Renal glycosuria (a family study). (6491338)
1984
10
Close genetic linkage between HLA and renal glycosuria. (6524599)
1984
11
Renal glycosuria in renal homograft recipients. (6387265)
1984
12
Immunological characterization of renal glycosuria patients. (6547376)
1984
13
Is renal glycosuria a benign condition? (6657688)
1983
14
Familial renal glycosuria. (634421)
1978
15
Renal glycosuria (a case report with a family study). (730745)
1978
16
Renal glycosuria due to gentamicin in rabbits. (972262)
1976
17
Micropuncture studies of glucose transport in the dog: mechanism of renal glycosuria. (961899)
1976
18
Renal glycosuria in normoglycemic glysoduric pregnancy: a quantitative study. (4704720)
1973
19
Cases with renal glycosuria in Ethiopia. (4992069)
1970
20
Renal glycosuria. (4242171)
1969
21
Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine. (5822589)
1969
22
Relation of renal glycosuria and parathyroid function in hypercalcemic sarcoidosis. (6035665)
1967
23
Renal glycosuria. (5218130)
1966
24
RENAL GLYCOSURIA WITH A FALSE-POSITIVE GLUCOSE TOLERANCE TEST. (14313901)
1965
25
RENAL GLYCOSURIA. FAILURE TO ESTABLISH EVIDENCE OF 'POTENTIAL' DIABETES BY THE PREDNISOLONE TOLBUTAMIDE TEST. (14115844)
1964
26
RENAL GLYCOSURIA, ACIDOSIS AND DEHYDRATION FOLLOWING ADMINISTRATION OF OUTDATED TETRACYCLINE. (14076463)
1964
27
THE INHERITANCE OF RENAL GLYCOSURIA. (14174800)
1964
28
A fine structural study of renal glycosuria. (13959454)
1963
29
Morphological aspects of renal glycosuria. (14415801)
1960
30
Association of psychosis with severe renal glycosuria. (13802136)
1959
31
Defects of renal tubular function in the nephrotic syndrome; observations on a nephrotic child with aminoaciduria, glycosuria, polyuria, tubular acidosis, and potassium depletion. (13420328)
1957
32
My most interesting case. XXII. An early case of renal glycosuria. (13370455)
1956
33
The significance of renal glycosuria in pregnancy. (13282974)
1956
34
True renal glycosuria. (13303891)
1956
35
Renal glycosuria in pregnant diabetic patients. (13312717)
1956
36
Renal glycosuria; occurrence in two siblings and a review of the literature. (13264043)
1955
37
Experimental production of renal glycosuria, phosphaturia, and aminoaciduria by injection of maleic acid. (13205194)
1954
38
Thirty-two cases of renal glycosuria. (13096926)
1953
39
Renalfunction tests in renal glycosuria, including observations during pregnancy. (13053766)
1953
40
Unilateral renal glycosuria in association with diabetes mellitus and chronic pyelonephritis. (15426107)
1950
41
Renal glycosuria induced by adrenocorticotrophic hormone. (15417635)
1950
42
The importance of laboratory findings in diagnosis; diabetes mellitus or renal glycosuria. (15398769)
1949
43
Renal glycosuria; a review of the literature and report of four cases. (18882932)
1948
44
Renal glycosuria associated with pentosuria. (20290364)
1947
45
Coincidental Diabetes Mellitus and Renal Glycosuria. (20320640)
1937
46
RENAL GLYCOSURIA MISTAKEN FOR DIABETES MELLITUS. (20778309)
1934
47
THE DIAGNOSIS OF RENAL GLYCOSURIA. (20317729)
1930
48
A Case of Diabetes Mellitus that became one of Atypical Renal Glycosuria. (20316828)
1928
49
General Medicine: Comments on the Most Important Type of Benign Glycosuria-The So-Called Renal Glycosuria, and the Renal Threshold. (18740820)
1928
50
The Effect of Pregnancy on a Patient with Renal Glycosuria. (19983863)
1924

Genetic Variations for Renal Glycosuria

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Renal Glycosuria:

63
id Symbol AA change Variation SNP ID
1SLC5A2p.Asn654SerVAR_019310rs61742739

Expression for genes affiliated with Renal Glycosuria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Renal Glycosuria

Search GEO for disease gene expression data for Renal Glycosuria.

Pathways for genes affiliated with Renal Glycosuria

Sources:
12EMD Millipore, 54Reactome
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Compounds for genes affiliated with Renal Glycosuria

Sources:
29IUPHAR, 11DrugBank, 45Novoseek, 60Tocris Bioscience, 24HMDB
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Compounds related to Renal Glycosuria according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1sergliflozin 299.6SLC5A1, SLC5A2
2remogliflozin299.6SLC5A1, SLC5A2
3empagliflozin299.6SLC5A1, SLC5A2
4dapagliflozin 299.5SLC5A1, SLC5A2
5canagliflozin 29 1110.4SLC5A2, SLC5A1
6nacl459.3SLC5A1, CLCNKA
7phlorizin45 29 6011.3SLC5A1, SLC5A2
8methyl alpha-d-glucopyranoside459.1SLC5A4, SLC5A2, SLC5A1
9galactose458.9SLC5A4, SLC5A2, SLC5A1
10glucose458.6SLC5A4, SLC5A2, SLC5A1
11sodium45 249.5CLCNKA, SLC5A1, SLC5A2, SLC5A4

GO Terms for genes affiliated with Renal Glycosuria

Sources:
16Gene Ontology
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Biological processes related to Renal Glycosuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:0059759.4SLC5A2, SLC5A1
2transportGO:0068109.2SLC5A2, CLCNKA
3transmembrane transportGO:0550858.8SLC5A2, SLC5A1, CLCNKA

Products for genes affiliated with Renal Glycosuria

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Sources for Renal Glycosuria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet