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, 10DISEASES, 20GeneTests, 46OMIM, 48Orphanet, 44Novoseek, 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
Pregnancy-associated polyuria in familial renal glycosuria. (23871407)
2013
2
Reversible renal glycosuria in acute interstitial nephritis. (22929613)
2012
3
Absence of ClC5 in knockout mice leads to glycosuria, impaired renal glucose handling and low proximal tubule GLUT2 protein expression. (17762172)
2007
4
Renal glycosuria: occurrence in two siblings and a review of the literature. (16291355)
2005
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
Renal glycosuria in two siblings. (1601482)
1992
8
Renal glycosuria in pyelonephritis. (2928025)
1989
9
Renal diabetes (primary renal glycosuria): a short overview. (3327302)
1987
10
Renal glycosuria in patients with the nephrotic syndrome. (6482310)
1984
11
Close genetic linkage between HLA and renal glycosuria. (6524599)
1984
12
Is renal glycosuria a benign condition? (6657688)
1983
13
Familial renal glycosuria. (634421)
1978
14
Renal glycosuria (a case report with a family study). (730745)
1978
15
Micropuncture studies of glucose transport in the dog: mechanism of renal glycosuria. (961899)
1976
16
Aminosidine and renal glycosuria. (5052584)
1972
17
Autosomal recessive inheritance of renal glycosuria. (5097684)
1971
18
Glucose reabsorption in familial renal glycosuria and glucose-galactose malabsorption. (5522782)
1970
19
Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine. (5822589)
1969
20
Relation of renal glycosuria and parathyroid function in hypercalcemic sarcoidosis. (6035665)
1967
21
Renal glycosuria. (4221848)
1966
22
RENAL GLYCOSURIA WITH A FALSE-POSITIVE GLUCOSE TOLERANCE TEST. (14313901)
1965
23
RENAL GLYCOSURIA. FAILURE TO ESTABLISH EVIDENCE OF 'POTENTIAL' DIABETES BY THE PREDNISOLONE TOLBUTAMIDE TEST. (14115844)
1964
24
RENAL GLYCOSURIA, ACIDOSIS AND DEHYDRATION FOLLOWING ADMINISTRATION OF OUTDATED TETRACYCLINE. (14076463)
1964
25
THE INHERITANCE OF RENAL GLYCOSURIA. (14174800)
1964
26
A fine structural study of renal glycosuria. (13959454)
1963
27
Morphological aspects of renal glycosuria. (14415801)
1960
28
Clinics on endocrine and metabolic diseases. 3. The development of diabetes mellitus in a patient with pituitary insufficiency and renal glycosuria. (14421724)
1960
29
Association of psychosis with severe renal glycosuria. (13802136)
1959
30
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
31
The significance of renal glycosuria in pregnancy. (13282974)
1956
32
True renal glycosuria. (13303891)
1956
33
Renal glycosuria in pregnant diabetic patients. (13312717)
1956
34
Renal glycosuria; occurrence in two siblings and a review of the literature. (13264043)
1955
35
Experimental production of renal glycosuria, phosphaturia, and aminoaciduria by injection of maleic acid. (13205194)
1954
36
Thirty-two cases of renal glycosuria. (13096926)
1953
37
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
38
Mechanism of renal glycosuria in ACTH-treated premature infants. (13027363)
1952
39
Cortisone and ACTH in essential hypertension; establishment of renal glycosuria. (14818448)
1951
40
Unilateral renal glycosuria in association with diabetes mellitus and chronic pyelonephritis. (15426107)
1950
41
Renal glycosuria induced by adrenocorticotrophic hormone. (15417635)
1950
42
Renal glycosuria; a review of the literature and report of four cases. (18882932)
1948
43
Renal glycosuria associated with pentosuria. (20290364)
1947
44
Coincidental Diabetes Mellitus and Renal Glycosuria. (20320640)
1937
45
RENAL GLYCOSURIA MISTAKEN FOR DIABETES MELLITUS. (20778309)
1934
46
THE DIAGNOSIS OF RENAL GLYCOSURIA. (20317729)
1930
47
A Case of Diabetes Mellitus that became one of Atypical Renal Glycosuria. (20316828)
1928
48
General Medicine: Comments on the Most Important Type of Benign Glycosuria-The So-Called Renal Glycosuria, and the Renal Threshold. (18740820)
1928
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