GLYS
MCID: RNL024
MIFTS: 50

Renal Glucosuria (GLYS) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Renal Glucosuria

Aliases & Descriptions for Renal Glucosuria:

Name: Renal Glucosuria 54 50 24 66 13
Renal Glycosuria 38 12 50 14
Familial Renal Glucosuria 56 29 69
Glycosuria, Renal 42 69
Glys1 24 66
Glucosuria, Renal 66
Sglt2 Deficiency 56
Renal Diabetes 12
Diabetes Renal 52
Glys 66

Characteristics:

Orphanet epidemiological data:

56
familial renal glucosuria
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

HPO:

32
renal glucosuria:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 233100
Disease Ontology 12 DOID:9432
ICD10 33 E74.8
ICD9CM 35 271.4
MeSH 42 D006030
Orphanet 56 ORPHA69076
ICD10 via Orphanet 34 E74.8
MedGen 40 C0017980
UMLS 69 C0017980

Summaries for Renal Glucosuria

NIH Rare Diseases : 50 renal glycosuria is a rare condition in which 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 people 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 people with renal glycosuria, there are no apparent symptoms or serious effects. rare cases of polyuria (increased urine output), enuresis (involuntary urination), and mild growth and pubertal maturational delay have been reported. when renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited in an autosomal recessive manner, caused by mutations in the  slc5a2 gene. treatment is not typically needed. last updated: 1/20/2016

MalaCards based summary : Renal Glucosuria, also known as renal glycosuria, is related to cataract, juvenile, with microcornea and glucosuria and renal cysts and diabetes syndrome, and has symptoms including polyuria, polydipsia and polyphagia. An important gene associated with Renal Glucosuria is SLC5A2 (Solute Carrier Family 5 Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glycosaminoglycan metabolism. The drugs Insulin Glargine and Insulin-glulisine have been mentioned in the context of this disorder. Affiliated tissues include Kidney and kidney.

OMIM : 54 Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the... (233100) more...

UniProtKB/Swiss-Prot : 66 Renal glucosuria: A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction.

Wikipedia : 71 Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose... more...

Related Diseases for Renal Glucosuria

Diseases related to Renal Glucosuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
id Related Disease Score Top Affiliating Genes
1 cataract, juvenile, with microcornea and glucosuria 11.6
2 renal cysts and diabetes syndrome 10.8
3 diabetes insipidus, nephrogenic 10.7
4 neuroblastoma 10.3
5 body dysmorphic disorder 10.0 SLC2A2 SLC5A2
6 pyelonephritis 9.9
7 ectopic cushing syndrome 9.9 SLC2A2 SLC5A1
8 aminoaciduria 9.9
9 thalassemia 9.9
10 distal muscular dystrophy 9.9 HNF1B SLC2A2
11 osteogenesis imperfecta 9.9
12 malt worker's lung 9.9 SLC2A1 SLC2A2
13 peroneal neuropathy 9.8 SLC2A2 SLC5A2
14 inferior myocardial infarction 9.8 SLC2A1 SLC2A2
15 endotheliitis 9.8
16 cataract 9.8
17 glucose/galactose malabsorption 9.8
18 neuronitis 9.7
19 brain stem glioma 9.7 SLC2A1 SLC2A2 SLC5A2
20 osteoporosis 9.7
21 nephrotic syndrome 9.7
22 polyneuropathy 9.6
23 hemophilia 9.6
24 thrombosis 9.6
25 acute insulin response 9.6
26 melanoma 9.6
27 spondyloepimetaphyseal dysplasia 9.5
28 androgen insensitivity 9.5
29 myoglobinuria 9.5
30 lateral sclerosis 9.5
31 glioma 9.5
32 coronary artery disease 9.5
33 hemophilia b 9.5
34 cervicitis 9.5
35 hydrops fetalis 9.5
36 achondroplasia 9.5
37 hemophilia a 9.5
38 epidermolysis bullosa 9.5
39 tardive dyskinesia 9.5
40 lipoprotein lipase deficiency 9.5
41 microcytic anemia 9.5
42 long qt syndrome 9.5
43 cardiomyopathy 9.5
44 osteogenesis imperfecta, type iv 9.5
45 heart disease 9.5
46 hemoglobinopathy 9.5
47 thalassemia intermedia 9.5
48 cystic fibrosis 9.5
49 hemolytic anemia 9.5
50 fibrosarcoma 9.5

Comorbidity relations with Renal Glucosuria via Phenotypic Disease Network (PDN):


Chronic Kidney Failure Heart Disease

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



Diseases related to Renal Glucosuria

Symptoms & Phenotypes for Renal Glucosuria

Symptoms by clinical synopsis from OMIM:

233100

Clinical features from OMIM:

233100

Human phenotypes related to Renal Glucosuria:

32
id Description HPO Frequency HPO Source Accession
1 polyuria 32 HP:0000103
2 polydipsia 32 HP:0001959
3 polyphagia 32 HP:0002591
4 glycosuria 32 HP:0003076
5 enuresis nocturna 32 HP:0010677

Drugs & Therapeutics for Renal Glucosuria

Drugs for Renal Glucosuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Insulin Glargine Approved Phase 4 160337-95-1
2
Insulin-glulisine Approved Phase 4 207748-29-6
3
Empagliflozin Approved Phase 4,Phase 2 864070-44-0
4 Angiotensin-Converting Enzyme Inhibitors Phase 4
5 Hypoglycemic Agents Phase 4,Phase 2,Phase 1
6 potassium phosphate Phase 1, Phase 2
7 Calcium, Dietary Phase 1, Phase 2
8 Phosphorus Supplement Nutraceutical Phase 1, Phase 2
9
Metformin Approved Phase 1 657-24-9 14219 4091
10
Canagliflozin Approved Phase 1 842133-18-0
11
Uric Acid Experimental, Investigational Phase 1 69-93-2 1175
12 Trichostatin A Phase 1 58880-19-6
13 glucagon Phase 1
14 Glucagon-Like Peptide 1 Phase 1
15 Dihydroxycholecalciferols Phase 1
16 Hormones Phase 1
17
Tenofovir Approved, Investigational 147127-20-6 464205
18
Emtricitabine Approved, Investigational 143491-57-0 60877
19 Nucleic Acid Synthesis Inhibitors
20 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination
21 Anti-HIV Agents
22 Anti-Infective Agents
23 Anti-Retroviral Agents
24 Reverse Transcriptase Inhibitors
25 Antiviral Agents
26 insulin
27 Fenugreek seed meal
28 Insulin, Globin Zinc
29 Fenugreek Nutraceutical

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN) Completed NCT00708981 Phase 4
2 PROTOCOL 3: Role of the Renal Nerves in the Increase in EGP in Response to Glucosuria Recruiting NCT03168295 Phase 4
3 Effect of Dapagliflozin on Hepatic and Renal Glucose Metabolism Subjects Not yet recruiting NCT02981966 Phase 4
4 SGLT-2 Inhibitor Empagliflozin Effects on Appetite and Weight Regulation. Not yet recruiting NCT02798744 Phase 4
5 Empagliflozin and Renal Oxygenation in Healthy Volunteers Recruiting NCT03093103 Phase 2
6 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2
7 A Study to Assess the Pharmacokinetics, Pharmacodynamics, and Safety of Canagliflozin (JNJ-28431754) in Volunteers With Varying Degrees of Kidney Function Completed NCT01759576 Phase 1
8 A Comparison Of Study Drug Blood Levels After One Dose Of GSK189075 In Subjects With Normal And Reduced Kidney Function Completed NCT00501462 Phase 1
9 A First-in-Human Study of JNJ-28431754 in Healthy Male Volunteers Completed NCT01177150 Phase 1
10 A Study to Assess the Pharmacokinetics and Pharmacodynamics of Canagliflozin in Healthy Chinese Volunteers Completed NCT01707316 Phase 1
11 The PK/PD Study of Multiple Dose of SHR3824 in Healthy Volunteers Completed NCT02361138 Phase 1
12 Study to Assess the Pharmacokinetics, Pharmacodynamics, and Safety of Canagliflozin (JNJ-28431754) in Otherwise Healthy Obese Volunteers Completed NCT01756404 Phase 1
13 A Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Canagliflozin in Older Children and Adolescents With Type 2 Diabetes Mellitus Completed NCT02000700 Phase 1
14 Genetics of Response to Canagliflozin Not yet recruiting NCT02891954 Phase 1
15 Renal, Endocrine, and Bone Changes in Response to FTC/TDF in Uninfected Young Men Who Have Sex With Men (YMSM). Completed NCT01769469
16 Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/Action Recruiting NCT01439854
17 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
18 Clinical Evaluation of Fenugreek Seed Extract, a Nutraceutical in Patients With Type- 2 Diabetes Recruiting NCT02693392

Search NIH Clinical Center for Renal Glucosuria

Cochrane evidence based reviews: glycosuria, renal

Genetic Tests for Renal Glucosuria

Genetic tests related to Renal Glucosuria:

id Genetic test Affiliating Genes
1 Familial Renal Glucosuria 29
2 Renal Glucosuria 24 SLC5A2

Anatomical Context for Renal Glucosuria

MalaCards organs/tissues related to Renal Glucosuria:

39
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 Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Renal Glucosuria

Articles related to Renal Glucosuria:

(show all 26)
id Title Authors Year
1
Renal glucosuria is not associated with atherosclerotic cardiovascular disease outcome in a general Japanese community. ( 28242048 )
2017
2
Genetic analysis and literature review of Chinese patients with familial renal glucosuria: Identification of a novel SLC5A2 mutation. ( 28365451 )
2017
3
Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. ( 27446256 )
2016
4
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. ( 27666404 )
2016
5
Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria. ( 25896487 )
2015
6
Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2. ( 25339128 )
2015
7
A novel sodium-glucose co-transporter 2 gene (SGLT2) mutation contributes to the abnormal expression of SGLT2 in renal tissues in familial renal glucosuria. ( 24908283 )
2014
8
Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene. ( 24255686 )
2013
9
Hypouricaemia and hyperuricosuria in familial renal glucosuria. ( 26064518 )
2013
10
Familial renal glucosuria: a clinicogenetic study of 23 additional cases. ( 22314875 )
2012
11
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. ( 21165652 )
2011
12
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. ( 19965550 )
2010
13
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. ( 18304496 )
2008
14
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
15
Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. ( 16518345 )
2006
16
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. ( 15610225 )
2005
17
Gene Symbol: SLC55A2. Disease: familial renal glucosuria. ( 15300967 )
2004
18
A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria. ( 15496564 )
2004
19
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. ( 14614622 )
2004
20
Renal glucosuria due to SGLT2 mutations. ( 15110322 )
2004
21
Long-term outcome of renal glucosuria type 0: the original patient and his natural history. ( 15299100 )
2004
22
Molecular analysis of the SGLT2 gene in patients with renal glucosuria. ( 14569097 )
2003
23
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). ( 12436245 )
2002
24
Identification of a novel form of renal glucosuria with overexcretion of arginine, carnosine, and taurine. ( 11325687 )
2001
25
Renal glucosuria and aminoaciduria. ( 899885 )
1977
26
Glucose-galactose malabsorption. Studies on renal glucosuria. ( 5438804 )
1970

Variations for Renal Glucosuria

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

66
id Symbol AA change Variation ID SNP ID
1 SLC5A2 p.Asn654Ser VAR_019310 rs61742739

ClinVar genetic disease variations for Renal Glucosuria:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC5A2 NM_003041.3(SLC5A2): c.1320G> A (p.Trp440Ter) single nucleotide variant Pathogenic rs121918621 GRCh37 Chromosome 16, 31500240: 31500240
2 SLC5A2 NM_003041.3(SLC5A2): c.1961A> G (p.Asn654Ser) single nucleotide variant Pathogenic rs61742739 GRCh37 Chromosome 16, 31501798: 31501798
3 SLC5A2 NM_003041.3(SLC5A2): c.500delA (p.Gln167Argfs) deletion Pathogenic rs267607067 GRCh37 Chromosome 16, 31497522: 31497522
4 SLC5A2 NM_003041.3(SLC5A2): c.127-16C> A single nucleotide variant Pathogenic rs398122801 GRCh38 Chromosome 16, 31484657: 31484657
5 SLC5A2 NM_003041.3(SLC5A2): c.1435C> G (p.Arg479Gly) single nucleotide variant Pathogenic rs387906682 GRCh37 Chromosome 16, 31500355: 31500355
6 SLC5A2 NM_003041.3(SLC5A2): c.294C> A (p.Phe98Leu) single nucleotide variant Pathogenic rs398122802 GRCh37 Chromosome 16, 31496235: 31496235
7 SLC5A2 NM_003041.3(SLC5A2): c.265G> A (p.Ala89Thr) single nucleotide variant Pathogenic rs886037850 GRCh38 Chromosome 16, 31484885: 31484885

Expression for Renal Glucosuria

Search GEO for disease gene expression data for Renal Glucosuria.

Pathways for Renal Glucosuria

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

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 SLC2A1 SLC2A2 SLC5A1 SLC5A2
2
Show member pathways
12.21 SLC2A1 SLC2A2 SLC5A1 SLC5A2
3 11.96 SLC2A1 SLC5A1 SLC5A2
4 11.68 HNF1B SLC2A2
5
Show member pathways
11.64 HNF1B SLC2A2
6
Show member pathways
11.57 SLC2A1 SLC2A2
7 11.54 SLC2A1 SLC2A2
8
Show member pathways
11.51 HNF1B SLC2A2
9
Show member pathways
11.48 HNF1B SLC2A2
10 11.42 SLC2A1 SLC2A2 SLC5A1 SLC5A2
11 11.31 SLC2A1 SLC5A1
12 11.25 SLC2A1 SLC2A2
13 11.14 SLC2A1 SLC2A2
14 11.01 SLC2A2 SLC5A1
15
Show member pathways
10.92 SLC2A1 SLC2A2 SLC5A1 SLC5A2
16 10.46 SLC2A1 SLC2A2

GO Terms for Renal Glucosuria

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

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.33 SLC2A1 SLC2A2 SLC5A1
2 cell-cell junction GO:0005911 9.13 SLC2A1 SLC2A2 SLC5A1
3 integral component of plasma membrane GO:0005887 9.02 SLC16A12 SLC2A1 SLC2A2 SLC5A1 SLC5A2

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.76 SLC2A1 SLC2A2 SLC5A1 SLC5A2
2 transmembrane transport GO:0055085 9.55 SLC16A12 SLC2A1 SLC2A2 SLC5A1 SLC5A2
3 sodium ion transport GO:0006814 9.43 SLC5A1 SLC5A2
4 glucose transport GO:0015758 9.43 SLC2A1 SLC2A2 SLC5A1
5 regulation of insulin secretion GO:0050796 9.4 SLC2A1 SLC2A2
6 dehydroascorbic acid transport GO:0070837 9.37 SLC2A1 SLC2A2
7 hexose transport GO:0008645 9.32 SLC2A2 SLC5A1
8 carbohydrate transport GO:0008643 9.26 SLC2A1 SLC2A2 SLC5A1 SLC5A2
9 glucose transmembrane transport GO:1904659 8.92 SLC2A1 SLC2A2 SLC5A1 SLC5A2

Molecular functions related to Renal Glucosuria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.43 SLC16A12 SLC5A1 SLC5A2
2 transmembrane transporter activity GO:0022857 9.4 SLC2A1 SLC2A2
3 substrate-specific transmembrane transporter activity GO:0022891 9.37 SLC2A1 SLC2A2
4 glucose transmembrane transporter activity GO:0005355 9.32 SLC2A1 SLC2A2
5 D-glucose transmembrane transporter activity GO:0055056 9.16 SLC2A1 SLC2A2
6 glucose:sodium symporter activity GO:0005412 8.96 SLC5A1 SLC5A2
7 dehydroascorbic acid transporter activity GO:0033300 8.62 SLC2A1 SLC2A2

Sources for Renal Glucosuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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