MCID: RNL024
MIFTS: 43

Renal Glucosuria malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories

Aliases & Classifications for Renal Glucosuria

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 30LifeMap Discovery®, 8Disease Ontology, 10DISEASES, 22GTR, 61UMLS, 44Novoseek, 33MeSH, 27ICD9CM, 56SNOMED-CT, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Renal Glucosuria:

Name: Renal Glucosuria 46 9 42 20 48
Familial Renal Glucosuria 42 48 22 61
Renal Glycosuria 30 8 42 10
Sglt2 Deficiency 42 48
 
Glycosuria, Renal 61
Renal Diabetes 8
Diabetes Renal 44


Classifications:



Characteristics (Orphanet epidemiological data):

48
renal glucosuria:
Inheritance: Autosomal recessive; Age of onset: All ages


External Ids:

OMIM46 233100
Disease Ontology8 DOID:9432
MeSH33 D006030
ICD9CM27 271.4
Orphanet48 69076
ICD10 via Orphanet26 E74.8

Summaries for Renal Glucosuria

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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 Glucosuria, also known as familial renal glucosuria, is related to hyperglycemia and juvenile cataract - microcornea - renal glucosuria, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and polyuria. An important gene associated with Renal Glucosuria is SLC5A2 (solute carrier family 5 (sodium/glucose cotransporter), member 2), and among its related pathways are Carbohydrate digestion and absorption and Selected targets of HNF1. The compounds dapagliflozin and remogliflozin have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotype behavior/neurological.

OMIM:46 Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the... (233100) more...

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

Related Diseases for Renal Glucosuria

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



Diseases related to renal glucosuria

Symptoms for Renal Glucosuria

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Symptoms by clinical synopsis from OMIM:

233100

Clinical features from OMIM:

233100

HPO human phenotypes related to Renal Glucosuria:

(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 Glucosuria

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Drug clinical trials:

Search ClinicalTrials for Renal Glucosuria

Search NIH Clinical Center for Renal Glucosuria

Genetic Tests for Renal Glucosuria

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Genetic tests related to Renal Glucosuria:

id Genetic test Affiliating Genes
1 Renal Glucosuria20 SLC5A2
2 Familial Renal Glucosuria22

Anatomical Context for Renal Glucosuria

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MalaCards organs/tissues related to Renal Glucosuria:

31
Kidney

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Animal Models for Renal Glucosuria or affiliated genes

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MGI Mouse Phenotypes related to Renal Glucosuria:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.6SLC5A1, SLC5A2, SLC2A2

Publications for Renal Glucosuria

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Articles related to Renal Glucosuria:

(show all 13)
idTitleAuthorsYear
1
Familial renal glucosuria: a clinicogenetic study of 23 additional cases. (22314875)
2012
2
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. (21165652)
2011
3
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. (19965550)
2010
4
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. (18622023)
2008
5
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. (18304496)
2008
6
Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. (16518345)
2006
7
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. (15610225)
2005
8
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. (14614622)
2004
9
Molecular analysis of the SGLT2 gene in patients with renal glucosuria. (14569097)
2003
10
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). (12436245)
2002
11
Identification of a novel form of renal glucosuria with overexcretion of arginine, carnosine, and taurine. (11325687)
2001
12
Renal glucosuria and aminoaciduria. (899885)
1977
13
Glucose-galactose malabsorption. Studies on renal glucosuria. (5438804)
1970

Variations for Renal Glucosuria

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

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

Clinvar genetic disease variations for Renal Glucosuria:

5
id Gene Variation 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 Glucosuria

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Search GEO for disease gene expression data for Renal Glucosuria.

Pathways for genes affiliated with Renal Glucosuria

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Pathways related to Renal Glucosuria according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SLC2A2, SLC5A1
2
Show member pathways
8.6SLC5A1, SLC5A2, SLC2A2
3
Show member pathways
8.6SLC5A1, SLC5A2, SLC2A2
4
Show member pathways
8.6SLC5A1, SLC5A2, SLC2A2
5
Show member pathways
8.6SLC5A1, SLC5A2, SLC2A2

Compounds for genes affiliated with Renal Glucosuria

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Compounds related to Renal Glucosuria according to GeneCards Suite gene sharing:

(show all 18)
idCompoundScoreTop Affiliating Genes
1dapagliflozin 289.8SLC5A1, SLC5A2
2remogliflozin289.7SLC5A1, SLC5A2
3empagliflozin289.7SLC5A1, SLC5A2
4sergliflozin 289.7SLC5A1, SLC5A2
5methyl alpha-d-glucopyranoside449.7SLC5A1, SLC5A2
6canagliflozin 28 1110.7SLC5A2, SLC5A1
7phlorizin44 28 6011.7SLC5A1, SLC5A2
83-o-methylglucose449.4SLC5A1, SLC2A2
9monosaccharide449.3SLC2A2, SLC5A1
10fructose44 1110.3SLC5A1, SLC2A2
112-deoxyglucose44 1110.2SLC5A1, SLC2A2
12mannitol44 1110.2SLC2A2, SLC5A1
13hydrogen44 2410.1SLC5A1, SLC2A2
14forskolin44 50 1111.0SLC2A2, SLC5A1
15galactose448.9SLC2A2, SLC5A2, SLC5A1
16proline448.8SLC5A1, SLC2A2
17sodium44 249.8SLC5A1, SLC5A2, SLC2A2
18glucose448.6SLC5A1, SLC5A2, SLC2A2

GO Terms for genes affiliated with Renal Glucosuria

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Cellular components related to Renal Glucosuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:00058868.0SLC5A1, SLC5A2, SLC2A2, SLC16A12

Biological processes related to Renal Glucosuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hexose transportGO:00086458.8SLC5A1, SLC2A2
2glucose transportGO:00157588.6SLC5A1, SLC5A2, SLC2A2
3transmembrane transportGO:00550858.6SLC5A1, SLC5A2, SLC2A2
4carbohydrate metabolic processGO:00059758.5SLC2A2, SLC5A2, SLC5A1

Sources for Renal Glucosuria

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet