MCID: RNL006
MIFTS: 49

Renal Glycosuria malady

Nephrological diseases, Metabolic diseases, Genetic diseases categories

Summaries for Renal Glycosuria

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 diabetes mellitus and pyelonephritis. 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, testes and pituitary, and related mouse phenotype renal/urinary system.

Wikipedia:63 Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose... more...

Description from OMIM:46 233100

Aliases & Classifications for Renal Glycosuria

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
renal glucosuria:
Inheritance: Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

renal glycosuria 8 42 10
renal glucosuria 42 20 46 48
familial renal glucosuria 48 60
glycosuria, renal 60
sglt2 deficiency 48
renal diabetes 8
diabetes renal 44


External Ids:

Disease Ontology8 DOID:9432
MeSH34 D006030
ICD9CM27 271.4
OMIM46 233100
ICD10 via Orphanet26 E74.8
SNOMED-CT via Orphanet57 236367002, 267430007, 226309007

Related Diseases for Renal Glycosuria

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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

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46OMIM
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Clinical features from OMIM:

233100

Clinical synopsis from OMIM:

233100

Drugs & Therapeutics for Renal Glycosuria

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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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

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Renal Glycosuria:

32
Kidney, Testes, 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

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36MGI
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MGI Mouse Phenotypes related to Renal Glycosuria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9SLC5A2, SLC5A1, CLCNKA

Publications for Renal Glycosuria

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50PubMed
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Articles related to Renal Glycosuria:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Reversible renal glycosuria in acute interstitial nephritis. (22929613)
2012
2
Absence of ClC5 in knockout mice leads to glycosuria, impaired renal glucose handling and low proximal tubule GLUT2 protein expression. (17762172)
2007
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
Hypercalciuria in children with renal glycosuria: evidence of dual renal tubular reabsorptive defects. (1432419)
1992
6
Renal glycosuria in two siblings. (1601482)
1992
7
Renal glycosuria in pyelonephritis. (2928025)
1989
8
Renal glycosuria (a family study). (6491338)
1984
9
Renal glycosuria in patients with the nephrotic syndrome. (6482310)
1984
10
Renal glycosuria in renal homograft recipients. (6387265)
1984
11
Immunological characterization of renal glycosuria patients. (6547376)
1984
12
Renal glycosuria and azotemia after enalapril maleate (MK-421) (6124829)
1982
13
Renal glycosuria due to gentamicin in rabbits. (972262)
1976
14
Micropuncture studies of glucose transport in the dog: mechanism of renal glycosuria. (961899)
1976
15
Renal glycosuria in normoglycemic glysoduric pregnancy: a quantitative study. (4704720)
1973
16
Aminosidine and renal glycosuria. (5052584)
1972
17
Autosomal recessive inheritance of renal glycosuria. (5097684)
1971
18
Cases with renal glycosuria in Ethiopia. (4992069)
1970
19
Glucose reabsorption in familial renal glycosuria and glucose-galactose malabsorption. (5522782)
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. (4221848)
1966
25
RENAL GLYCOSURIA WITH A FALSE-POSITIVE GLUCOSE TOLERANCE TEST. (14313901)
1965
26
RENAL GLYCOSURIA. FAILURE TO ESTABLISH EVIDENCE OF 'POTENTIAL' DIABETES BY THE PREDNISOLONE TOLBUTAMIDE TEST. (14115844)
1964
27
RENAL GLYCOSURIA, ACIDOSIS AND DEHYDRATION FOLLOWING ADMINISTRATION OF OUTDATED TETRACYCLINE. (14076463)
1964
28
RENAL GLYCOSURIA IN PRE-EXISTING DIABETES. (14120586)
1964
29
THE INHERITANCE OF RENAL GLYCOSURIA. (14174800)
1964
30
Renal glycosuria. (13806405)
1960
31
Clinics on endocrine and metabolic diseases. 3. The development of diabetes mellitus in a patient with pituitary insufficiency and renal glycosuria. (14421724)
1960
32
Association of psychosis with severe renal glycosuria. (13802136)
1959
33
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
34
My most interesting case. XXII. An early case of renal glycosuria. (13370455)
1956
35
The significance of renal glycosuria in pregnancy. (13282974)
1956
36
True renal glycosuria. (13303891)
1956
37
Renal glycosuria; occurrence in two siblings and a review of the literature. (13264043)
1955
38
Thirty-two cases of renal glycosuria. (13096926)
1953
39
Renalfunction tests in renal glycosuria, including observations during pregnancy. (13053766)
1953
40
Osteomalacia and renal glycosuria in adults; metabolic investigation of a case with particular reference to its relation to the Fanconi syndrome and to treatment. (14900385)
1952
41
Mechanism of renal glycosuria in ACTH-treated premature infants. (13027363)
1952
42
Cortisone and ACTH in essential hypertension; establishment of renal glycosuria. (14818448)
1951
43
Renal glycosuria induced by adrenocorticotrophic hormone. (15417635)
1950
44
The importance of laboratory findings in diagnosis; diabetes mellitus or renal glycosuria. (15398769)
1949
45
Renal glycosuria; a review of the literature and report of four cases. (18882932)
1948
46
Osteoporosis associated with low serum phosphorus and renal glycosuria. (20261155)
1947
47
RENAL GLYCOSURIA MISTAKEN FOR DIABETES MELLITUS. (20778309)
1934
48
THE DIAGNOSIS OF RENAL GLYCOSURIA. (20317729)
1930
49
The Effect of Pregnancy on a Patient with Renal Glycosuria. (19983863)
1924
50
Renal Glycosuria in an Infant Twenty Months of Age. (20315144)
1924

Genetic Variations for Renal Glycosuria

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Renal Glycosuria:

62
id Symbol AA change Variation ID SNP ID
1SLC5A2p.Asn654SerVAR_019310rs61742739

Expression for genes affiliated with Renal Glycosuria

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

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Pathways for genes affiliated with Renal Glycosuria

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12EMD Millipore, 53Reactome
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Compounds for genes affiliated with Renal Glycosuria

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28IUPHAR, 11DrugBank, 44Novoseek, 59Tocris Bioscience, 24HMDB
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Compounds related to Renal Glycosuria according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1sergliflozin 289.6SLC5A1, SLC5A2
2remogliflozin289.6SLC5A1, SLC5A2
3empagliflozin289.6SLC5A1, SLC5A2
4dapagliflozin 289.5SLC5A1, SLC5A2
5canagliflozin 28 1110.4SLC5A2, SLC5A1
6nacl449.3SLC5A1, CLCNKA
7phlorizin44 28 5911.3SLC5A1, SLC5A2
8methyl alpha-d-glucopyranoside449.1SLC5A4, SLC5A2, SLC5A1
9galactose448.9SLC5A4, SLC5A2, SLC5A1
10glucose448.6SLC5A4, SLC5A2, SLC5A1
11sodium44 249.5CLCNKA, SLC5A1, SLC5A2, SLC5A4

GO Terms for genes affiliated with Renal Glycosuria

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet