MCID: RNL006
MIFTS: 49

Renal Glycosuria malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories
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Summaries for Renal Glycosuria

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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 based summary: Renal Glycosuria, also known as renal glucosuria, is related to hyperglycemia and diabetes mellitus, and has symptoms including An important gene associated with Renal Glycosuria is SLC5A2 (solute carrier family 5 (sodium/glucose cotransporter), member 2), and among its related pathways are MPS VI - Maroteaux-Lamy syndrome and Regulation of Glucokinase by Glucokinase Regulatory Protein. The compounds dapagliflozin and sergliflozin have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and pituitary, and related mouse phenotype renal/urinary system.

Wikipedia:65 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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Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 20GeneTests, 46OMIM, 48Orphanet, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Renal Glycosuria, Aliases & Descriptions:

Name: Renal Glycosuria 30 8 42 10
Renal Glucosuria 42 20 46 48
Familial Renal Glucosuria 48 62
Glycosuria, Renal 62
 
Sglt2 Deficiency 48
Renal Diabetes 8
Diabetes Renal 44


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:9432
OMIM46 233100
MeSH34 D006030
ICD9CM27 271.4
ICD10 via Orphanet26 E74.8

Related Diseases for Renal Glycosuria

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Graphical network of the top 20 diseases related to Renal Glycosuria:



Diseases related to renal glycosuria

Symptoms for Renal Glycosuria

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Symptoms by clinical synopsis from OMIM:

233100

Clinical features from OMIM:

233100

HPO human phenotypes related to Renal Glycosuria:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 polyuria HP:0000103
4 polydipsia HP:0001959
5 polyphagia HP:0002591
6 glycosuria HP:0003076
7 variable expressivity HP:0003828
8 enuresis nocturna HP:0010677

Drugs & Therapeutics for Renal Glycosuria

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Drug clinical trials:

Search ClinicalTrials for Renal Glycosuria

Search NIH Clinical Center for Renal Glycosuria

Genetic Tests for Renal Glycosuria

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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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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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MGI Mouse Phenotypes related to Renal Glycosuria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5SLC5A1, SLC5A2, CLCNKA

Publications for Renal Glycosuria

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Articles related to Renal Glycosuria:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Reversible renal glycosuria in acute interstitial nephritis. (22929613)
2012
2
Transient renal glycosuria in a patient with acute pyelonephritis. (11446678)
2001
3
Renal glycosuria treated as diabetes mellitus: case report. (9557451)
1997
4
Hypercalciuria in children with renal glycosuria: evidence of dual renal tubular reabsorptive defects. (1432419)
1992
5
Renal glycosuria in two siblings. (1601482)
1992
6
Renal glycosuria (a family study). (6491338)
1984
7
Renal glycosuria in patients with the nephrotic syndrome. (6482310)
1984
8
Close genetic linkage between HLA and renal glycosuria. (6524599)
1984
9
Renal glycosuria in renal homograft recipients. (6387265)
1984
10
Renal glycosuria and azotemia after enalapril maleate (MK-421) (6124829)
1982
11
Renal glycosuria due to gentamicin in rabbits. (972262)
1976
12
Micropuncture studies of glucose transport in the dog: mechanism of renal glycosuria. (961899)
1976
13
Renal glycosuria in normoglycemic glysoduric pregnancy: a quantitative study. (4704720)
1973
14
Aminosidine and renal glycosuria. (5052584)
1972
15
Cases with renal glycosuria in Ethiopia. (4992069)
1970
16
Glucose reabsorption in familial renal glycosuria and glucose-galactose malabsorption. (5522782)
1970
17
Renal glycosuria. (4242171)
1969
18
Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine. (5822589)
1969
19
Relation of renal glycosuria and parathyroid function in hypercalcemic sarcoidosis. (6035665)
1967
20
Renal glycosuria. (5218130)
1966
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
RENAL GLYCOSURIA IN PRE-EXISTING DIABETES. (14120586)
1964
26
THE INHERITANCE OF RENAL GLYCOSURIA. (14174800)
1964
27
A fine structural study of renal glycosuria. (13959454)
1963
28
Morphological aspects of renal glycosuria. (14415801)
1960
29
Renal glycosuria. (13806405)
1960
30
My most interesting case. XXII. An early case of renal glycosuria. (13370455)
1956
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
Renalfunction tests in renal glycosuria, including observations during pregnancy. (13053766)
1953
38
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
39
Mechanism of renal glycosuria in ACTH-treated premature infants. (13027363)
1952
40
Cortisone and ACTH in essential hypertension; establishment of renal glycosuria. (14818448)
1951
41
Unilateral renal glycosuria in association with diabetes mellitus and chronic pyelonephritis. (15426107)
1950
42
Renal glycosuria induced by adrenocorticotrophic hormone. (15417635)
1950
43
The importance of laboratory findings in diagnosis; diabetes mellitus or renal glycosuria. (15398769)
1949
44
Renal glycosuria; a review of the literature and report of four cases. (18882932)
1948
45
Renal glycosuria associated with pentosuria. (20290364)
1947
46
RENAL GLYCOSURIA MISTAKEN FOR DIABETES MELLITUS. (20778309)
1934
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

Variations for Renal Glycosuria

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UniProtKB/Swiss-Prot genetic disease variations for Renal Glycosuria:

64
id Symbol AA change Variation ID SNP ID
1SLC5A2p.Asn654SerVAR_019310rs61742739

Clinvar genetic disease variations for Renal Glycosuria:

6
id Gene Name Type Significance SNP ID Assembly Location
1SLC5A2NM_003041.3(SLC5A2): c.1320G> A (p.Trp440Ter)single nucleotide variantPathogenicrs121918621GRCh37Chr 16, 31500240: 31500240
2NM_003041.3(SLC5A2): c.1961A> G (p.Asn654Ser)single nucleotide variantPathogenicrs61742739GRCh37Chr 16, 31501798: 31501798
3SLC5A2NM_003041.3(SLC5A2): c.500delA (p.Gln167Argfs)deletionPathogenicrs267607067GRCh37Chr 16, 31497522: 31497522
4SLC5A2NM_003041.3(SLC5A2): c.127-16C> Asingle nucleotide variantPathogenicrs398122801GRCh38Chr 16, 31484657: 31484657
5SLC5A2NM_003041.3(SLC5A2): c.294C> A (p.Phe98Leu)single nucleotide variantPathogenicrs398122802GRCh37Chr 16, 31496235: 31496235

Expression for genes affiliated with Renal Glycosuria

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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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Pathways related to Renal Glycosuria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SLC5A1, SLC5A2
2
Show member pathways
9.1SLC5A1, SLC5A2
3
Show member pathways
8.5SLC5A1, SLC5A2, CLCNKA

Compounds for genes affiliated with Renal Glycosuria

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Sources:
28IUPHAR, 44Novoseek, 11DrugBank, 61Tocris Bioscience, 24HMDB
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Compounds related to Renal Glycosuria according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dapagliflozin 289.4SLC5A1, SLC5A2
2sergliflozin 289.3SLC5A2, SLC5A1
3empagliflozin289.3SLC5A2, SLC5A1
4remogliflozin289.3SLC5A2, SLC5A1
5methyl alpha-d-glucopyranoside449.2SLC5A1, SLC5A2
6canagliflozin 28 1110.2SLC5A2, SLC5A1
7phlorizin44 28 6111.1SLC5A1, SLC5A2
8nacl449.0SLC5A1, CLCNKA
9galactose448.8SLC5A1, SLC5A2
10sodium44 249.4CLCNKA, SLC5A2, SLC5A1

GO Terms for genes affiliated with Renal Glycosuria

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Biological processes related to Renal Glycosuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:0059759.1SLC5A1, SLC5A2
2transportGO:0068109.0SLC5A2, CLCNKA
3glucose transportGO:0157589.0SLC5A1, SLC5A2
4transmembrane transportGO:0550858.5SLC5A1, SLC5A2, 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet