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GLYS
MCID: RNL024
MIFTS: 58

Renal Glucosuria (GLYS)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Renal Glucosuria

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MalaCards integrated aliases for Renal Glucosuria:

Name: Renal Glucosuria 56 52 73 13
Familial Renal Glucosuria 58 36 29 6 71
Renal Glycosuria 12 74 52 15 17
Glycosuria, Renal 56 43 71
Glucosuria, Renal 73 39
Glys1 56 73
Glys 56 73
Familial Renal Glycosuria 58
Sglt2 Deficiency 58
Renal Diabetes 12
Diabetes Renal 54
Gly 74

Characteristics:

Orphanet epidemiological data:

58
familial renal glucosuria
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
patients with homozygous or compound heterozygous mutations have more severe renal glucose wasting than those with heterozygous mutations


HPO:

31
renal glucosuria:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9432
OMIM 56 233100
KEGG 36 H01126
ICD9CM 34 271.4
MeSH 43 D006030
SNOMED-CT 67 267430007
ICD10 32 E74.8
ICD10 via Orphanet 33 E74.8
UMLS via Orphanet 72 C0017980 C3245525
Orphanet 58 ORPHA69076
MedGen 41 C0017980
UMLS 71 C0017980 C3245525
Sources

Summaries for Renal Glucosuria

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NIH Rare Diseases : 52 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 delays in growth and maturation during puberty have been reported. When renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be caused by mutations in the SLC5A2 gene . Treatment is not typically needed.

MalaCards based summary : Renal Glucosuria, also known as familial renal glucosuria, is related to fanconi syndrome and fanconi-bickel syndrome. 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 Cephalexin and Insulin glulisine have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and testes, and related phenotypes are enuresis nocturna and polydipsia

OMIM : 56 Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over 150 g/1.73 m(2) per day (Santer and Calado, 2010). (233100)

KEGG : 36 Familial renal glucosuria (FRG) is a rare autosomal recessive disorder of the kidney characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. The vast majority of affected individuals are asymptomatic, but there is a rare propensity to develop hypoglycemia and hypovolemia. FRG is associated with mutations in the SGLT2 gene.

UniProtKB/Swiss-Prot : 73 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 : 74 Renal glycosuria is a rare condition in which the simple sugar glucose is excreted in the urine despite... more...

Sources

Related Diseases for Renal Glucosuria

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

(show top 50) (show all 454)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 30.5 SLC5A4 SLC5A2 SLC2A2
2 fanconi-bickel syndrome 30.3 SLC2A2 INS
3 hyperglycemia 30.2 SLC5A2 SLC5A1 SLC2A2 SLC2A1 INS
4 diabetes mellitus, type i 29.8 SLC5A4 SLC5A2 SLC2A2 INS
5 chronic kidney disease 29.7 SLC5A2 INS HNF1B AQP2
6 pyelitis 29.7 SLC5A4 SLC5A2
7 monogenic diabetes 29.5 INS HNF1B
8 hypoglycemia 29.5 SLC2A2 SLC2A1 INS
9 prediabetes syndrome 29.4 SLC5A4 SLC5A2 INS
10 acute cystitis 29.2 SLC5A4 SLC5A2 SLC5A1 REG1A INS
11 diabetes insipidus 29.1 INS CLCNKA AQP2
12 diabetes mellitus 29.1 SLC5A2 SLC2A2 SLC2A1 REG1A INS HNF1B
13 bartter disease 29.1 CLCNKA AQP2
14 maturity-onset diabetes of the young 28.8 SLC2A2 REG1A INS HNF1B
15 diabetes mellitus, ketosis-prone 28.6 SLC5A4 SLC5A2 SLC5A1 REG1A INS
16 diabetes mellitus, noninsulin-dependent 28.0 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1 REG1A
17 cataract 47 12.2
18 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.3
19 stiff skin syndrome 11.3
20 renal cysts and diabetes syndrome 11.2
21 neuroblastoma 10.8
22 helix syndrome 10.7
23 thalassemia 10.5
24 beta-thalassemia 10.4
25 fanconi-like syndrome 10.4 SLC5A2 SLC5A1
26 rapidly involuting congenital hemangioma 10.3
27 testicular sex cord-stromal neoplasm 10.3 SLC5A4 SLC5A2
28 testicular leydig cell tumor 10.3 SLC5A4 SLC5A2
29 hemoglobinopathy 10.3
30 vulvitis 10.3 SLC5A4 SLC5A2
31 glucose/galactose malabsorption 10.3
32 osmotic diarrhea 10.3 SLC5A1 SLC2A2
33 alpha-thalassemia 10.2
34 hemolytic anemia 10.2
35 renal fibrosis 10.2
36 fanconi renotubular syndrome 2 10.2
37 aminoaciduria 10.2
38 brittle bone disorder 10.2
39 mouth disease 10.2
40 necrobiosis lipoidica 10.2 SLC2A1 INS
41 pyelonephritis 10.2
42 osteogenic sarcoma 10.2
43 pertussis 10.2
44 lateral sclerosis 10.2
45 fibrosarcoma 10.2
46 pancreatic colloid cystadenoma 10.2 SLC5A4 SLC5A2 SLC5A1
47 balanoposthitis 10.2 SLC5A4 SLC5A2 SLC5A1
48 amyotrophic lateral sclerosis 1 10.1
49 diabetes mellitus, permanent neonatal 4 10.1 SLC2A2 INS
50 penile disease 10.1 SLC5A4 SLC5A2

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


Heart Disease

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



Diseases related to Renal Glucosuria
Sources

Symptoms & Phenotypes for Renal Glucosuria

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Human phenotypes related to Renal Glucosuria:

31
# Description HPO Frequency HPO Source Accession
1 enuresis nocturna 31 occasional (7.5%) HP:0010677
2 polydipsia 31 HP:0001959
3 glycosuria 31 HP:0003076
4 polyphagia 31 HP:0002591
5 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
glucosuria
renal glucose wasting
polyuria (in some)

Metabolic Features:
polydipsia (in some)

Cardiovascular Vascular:
extracellular volume depletion (rare, in severe cases only)

Clinical features from OMIM:

233100

MGI Mouse Phenotypes related to Renal Glucosuria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 AQP2 CLCNKA HNF1B INS SLC5A1 SLC5A2
Sources

Drugs & Therapeutics for Renal Glucosuria

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
2
Insulin glulisine Approved Phase 4 207748-29-6
3
Insulin glargine Approved Phase 4 160337-95-1
4
Liraglutide Approved Phase 4 204656-20-2 44147092
5
Zinc Approved, Investigational Phase 4 7440-66-6 32051
6 Anti-Bacterial Agents Phase 4
7 Anti-Infective Agents Phase 4
8 Antibiotics, Antitubercular Phase 4
9 Lactams Phase 4
10 beta-Lactams Phase 4
11 Glucagon-Like Peptide 1 Phase 4
12 Incretins Phase 4
13 Hypoglycemic Agents Phase 4
14 Angiotensin-Converting Enzyme Inhibitors Phase 4
15 Angiotensin Receptor Antagonists Phase 4
16 Insulin, Globin Zinc Phase 4
17 insulin Phase 4
18 Hormone Antagonists Phase 4
19 Hormones Phase 4
20
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
21
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
22
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
23 Fibrinolytic Agents Phase 3
24 Analgesics, Non-Narcotic Phase 3
25 Analgesics Phase 3
26 Cyclooxygenase Inhibitors Phase 3
27 Platelet Aggregation Inhibitors Phase 3
28 Antipyretics Phase 3
29 Antirheumatic Agents Phase 3
30 Anti-Inflammatory Agents, Non-Steroidal Phase 3
31 glucocorticoids Phase 3
32 Antineoplastic Agents, Hormonal Phase 3
33 Anti-Inflammatory Agents Phase 3
34 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
35 Antihypertensive Agents Phase 2, Phase 3
36 diuretics Phase 2, Phase 3
37
Arginine Investigational, Nutraceutical Phase 3 74-79-3 6322
38
Canagliflozin Approved Phase 1 842133-18-0
39
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1 1406-16-2
40 Vitamins Phase 1
41 Mitogens Phase 1
42 Sodium-Glucose Transporter 2 Inhibitors Phase 1
43 Calciferol Phase 1
44
Nitric Oxide Approved 10102-43-9 145068
45
Pancrelipase Approved, Investigational 53608-75-6
46
Lithium carbonate Approved 554-13-2
47
Methylcobalamin Approved, Investigational 13422-55-4
48
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
49
Glucagon Approved 16941-32-5
50
Creatine Approved, Investigational, Nutraceutical 57-00-1 586

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 Impact of Antibiotic Treatment Following Implantation of Cardiac Electronic Device on Patient's Outcome Unknown status NCT03148444 Phase 4 cefalexin 500 mg qid or roxithromycin 150 mg bid
2 Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN) Completed NCT00708981 Phase 4
3 A Randomised, Double-blinded, Cross-over Study Investigating the Short-term Impact of Liraglutide on Kidney Function in Diabetic Patients Completed NCT01664676 Phase 4 Liraglutide;Placebo-liraglutide
4 Glargine Dosing in Hospitalized Patients With Type 2 Diabetes and Renal Insufficiency Completed NCT00911625 Phase 4 0.5 units/kg daily insulin;0.25 units/kg daily insulin
5 Effect of Renal Sympathetic Denervation on Glycemic Status Independent of Blood Pressure-lowering. Withdrawn NCT02081989 Phase 4
6 Effect of Aspirin on Renal Disease Progression in Patients With Type 2 Diabetes: a Multicentre Double-blind, Placebo-controlled, Randomised Trial. The LEDA (renaL disEase Progression by Aspirin in Diabetic pAtients) Study. Unknown status NCT02895113 Phase 3 Aspirin
7 CABG Off or On Pump Revascularization Study (CORONARY) Completed NCT00463294 Phase 3
8 A Double-Blind, Randomized, Pilot Study to Explore Whether Enhancing L-Arginine Bioavailability by Oral Supplementation Increases NO Production and Prevents Peroxynitrite Generation in the Pre-Eclamptic Placenta Completed NCT00157521 Phase 3 L-arginine
9 Oral Steroids in the Treatment of Acute Sciatica A Randomized Controlled Study Completed NCT00317447 Phase 3 Oral Prednisone
10 Pharmacodynamic Evaluation of the ANTICALCIURIC Effect of Hydrochlorothiazide in Dent's Disease Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
11 Acute Effects of Canagliflozin, a Sodium Glucose Co-Transporter 2 (SGLT2) Inhibitor on Bone Metabolism in Healthy Volunteers Completed NCT02404870 Phase 1 Placebo;Canagliflozin
12 Dosing Strategies in Diabetic Patients With End Stage Renal Disease (ESRD) or Hemodialysis (DOSE-HD Study) Unknown status NCT02083133
13 Prospective Controlled Study of Posttransplant Diabetes Unknown status NCT00006331
14 Evaluation of the Impact of a Comprehensive Clinical Management on the Quality of Blood Pressure and Glycemic Control in Diabetic Uremic Patients Unknown status NCT00306436
15 Comprehensive 12-week Lifestyle Change Program in Elderly Patients With Heart Failure Unknown status NCT02303275
16 Pharmacodynamic Comparison of Truncal Blocks in Patients With or Without Metabolic Disease (Kidney Failure, Diabetes) Completed NCT01323075
17 Logistic Regression of Risk Factor for the 5-year Mortality of Aortic Dissection Completed NCT01782534
18 Cocoa, Polyphenols, and the Kidney in Healthy Subjects and in Subjects With Hypertension and Diabetes Mellitus Completed NCT00639665
19 NAFLD: Independent Effects of Western Dietary Pattern Profile and Sedentary Life Completed NCT02670590
20 Screening Protocol for Patients Needing a Kidney, Kidney-Pancreas, or Islet Cell Transplant Completed NCT00001859
21 Non-respiratory Comorbidities Observed in Pulmonary French Transplant Patients With Cystic Fibrosis - Exploratory Study From the French Cohort on 2004-2014. Completed NCT03357913
22 Development of and Feasibility Testing of Decision Support for Patients Who Are Candidates for an Implantable Defibrillator Completed NCT01876173
23 Case-control Study of Pandemic A/H1N1 Influenza Risk Factors In Lebanon Completed NCT01298206
24 A Pilot Trial of Lithium in Inclusion Body Myositis (IBM) Completed NCT00917956
25 The Influence of Lunar Cycle On Hospital Outcomes Following Ascending Aortic Dissection Repair Completed NCT02236923
26 New- Onset Diabetes and Glucose Regulation Are Significant Determinants of Left Ventricular Hypertrophy in Renal Transplant Recipients Completed NCT01976689
27 Prospective Studies of Diabetes Mellitus and Its Complications in the Gila River Indian Community Completed NCT00339482
28 "Outcome of Diabetes Education Among Renal Transplant Recipients With New Onset Diabetes After Transplantation (NODAT)" Completed NCT04030013
29 Evaluation of Holotranscobalamin as an Indicator of Vitamin B12 Absorption Completed NCT00235573
30 Bone Metabolism and Endothelial Function in Patients With Type 2 Diabetes Mellitus and Charcot Foot - an Observational Comparative Study Completed NCT02435329
31 Risk Stratification of Patients Presenting With Cardiac Arrest Completed NCT02738099
32 Human SLC5A2 Deficiency and the Glucagon-Incretin Axis: A Pilot Study Recruiting NCT03965000
33 Randomized Trial to Assess the Efficacy of a High-intensity Physical Activity Program on Renal Function Decline in High Risk Patients With Type 2 Diabetes Recruiting NCT03184662
34 Retrospective Study of Renal Biopsies Indications and Their Results in Patients With Type-2 Diabetes : a Multicenter Study Recruiting NCT04006028
35 Non-invasive Rapid Assessment of Patients With Liver Transplants Using Magnetic Resonance Imaging With LiverMultiScan. Recruiting NCT03165201
36 Intermittent Fasting as a Means to Lose Fluid Overload and Weight in Complicated Obesity: a Pilot Feasibility Study Recruiting NCT04193995
37 The Improving Cancer Aftercare Study. Using Patient and Caregiver Experiences to Assess Treatment Burden and Inform Health Service Design for People After Prostate and Colorectal Cancer. A Qualitative Semi-structured Interview Study. Not yet recruiting NCT04163068
38 The Correlation Between HbA1c and Mean Blood Glucose in Patients With Diabetes and Renal Failure Terminated NCT01937858
39 Changes In Diurnal Blood Pressure Pattern In Obstructive Sleep Apnea (OSA) Patients After CPAP Therapy Terminated NCT01865864

Search NIH Clinical Center for Renal Glucosuria

Cochrane evidence based reviews: glycosuria, renal

Sources

Genetic Tests for Renal Glucosuria

About this section

Genetic tests related to Renal Glucosuria:

# Genetic test Affiliating Genes
1 Familial Renal Glucosuria 29 SLC5A2
Sources

Anatomical Context for Renal Glucosuria

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MalaCards organs/tissues related to Renal Glucosuria:

40
Kidney, Bone, Testes, Liver, Heart, Pancreas, Placenta
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Renal Glucosuria:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Affected by disease, potential therapeutic candidate
Sources

Publications for Renal Glucosuria

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Articles related to Renal Glucosuria:

(show top 50) (show all 324)
# Title Authors PMID Year
1
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria. 6 56 61
26376857 2016
2
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. 6 61 56
21165652 2011
3
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). 6 56 61
12436245 2002
4
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. 61 56
19965550 2010
5
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. 6 61
14614622 2004
6
The human kidney low affinity Na+/glucose cotransporter SGLT2. Delineation of the major renal reabsorptive mechanism for D-glucose. 61 56
8282810 1994
7
Complete absence of tubular glucose reabsorption: a new type of renal glucosuria (type 0). 61 56
3568462 1987
8
Close genetic linkage between HLA and renal glycosuria. 61 56
6524599 1984
9
[Renal glycosuria: dominant or recessive autosome anomaly? Mode of hereditary transmission based on the analysis of a 3-generation family tree]. 61 56
6828258 1983
10
Autosomal recessive inheritance of renal glycosuria. 56 61
5097684 1971
11
Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine. 61 56
5822589 1969
12
THE INHERITANCE OF RENAL GLYCOSURIA. 61 56
14174800 1964
13
[Idiopathic renal glycosuria; 3 generations of a severely handicapped family]. 56 61
13517633 1958
14
Renal and intestinal hexose transport in familial glucose-galactose malabsorption. 56
5415683 1970
15
RENAL DIABETES AS A CONGENITAL TUBULAR DYSPLASIA. 56
14181149 1964
16
Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium-glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene. 61
31584752 2020
17
Nephrological disorders and neurological involvement in pediatric primary Sjogren syndrome:a case report and review of literature. 61
32448292 2020
18
Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children. 61
32034166 2020
19
SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families. 61
32111189 2020
20
Empagliflozin for the Treatment of Nonalcoholic Steatohepatitis in Patients with Type 2 Diabetes Mellitus. 61
30684076 2020
21
Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease. 61
31286439 2019
22
Renal glycosuria as a novel early sign of colistin-induced kidney damage in mice. 61
31591120 2019
23
Sodium-Glucose Cotransporter-2 Inhibitors: Lack of a Complete History Delays Diagnosis. 61
31525753 2019
24
Renal glucosuria is associated with lower body weight and lower rates of elevated systolic blood pressure: results of a nationwide cross-sectional study of 2.5 million adolescents. 61
31554505 2019
25
Sodium-glucose cotransporter 2 inhibition as a potential treatment for idiopathic oedema. 61
31383344 2019
26
A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature. 61
30942416 2019
27
What does sodium-glucose co-transporter 1 inhibition add: Prospects for dual inhibition. 61
31081587 2019
28
Identification of ten novel SLC5A2 mutations and determination of the renal threshold for glucose excretion in Chinese patients with familial renal glucosuria. 61
30593819 2019
29
Basal glucosuria in cats. 61
30375076 2019
30
Acquired renal glucosuria in an undifferentiated connective tissue disease patient with a SLC5A2 heterozygous mutation: A case report. 61
30558067 2018
31
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 61
30899310 2018
32
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. 61
30200082 2018
33
Renal glucosuria in schoolchildren: Clinical characteristics. 61
29110414 2018
34
Novel and Unexpected Functions of SGLTs. 61
29021363 2017
35
Accelerated oligosaccharide absorption and altered serum metabolites during oral glucose tolerance test in young Japanese with impaired glucose tolerance. 61
28766917 2017
36
Protective Role of Apelin Against Cyclosporine-Induced Renal Tubular Injury in Rats. 61
28736029 2017
37
Genetic analysis and literature review of Chinese patients with familial renal glucosuria: Identification of a novel SLC5A2 mutation. 61
28365451 2017
38
Renal glucosuria is not associated with atherosclerotic cardiovascular disease outcome in a general Japanese community. 61
28242048 2017
39
Clinical and Genetic Features of Patients With Type 2 Diabetes and Renal Glycosuria. 61
28324025 2017
40
MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2. 61
27288013 2017
41
A Case of Isolated Glycosuria Mediated by an SLC5A2 Gene Mutation and Characterized by Postprandial Heavy Glycosuria Without Salt Wasting. 61
28275387 2016
42
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. 61
27666404 2016
43
Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. 61
27446256 2016
44
Decreased expression and function of sodium-glucose co-transporter 2 from a novel C-terminal mutation: a case report. 61
27000029 2016
45
Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time. 61
26735923 2016
46
[SGLT2 inhibitor]. 61
26666158 2015
47
[Renal aspects of sodium glucose cotransporter 2 inhibitors]. 61
25898456 2015
48
Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria. 61
25896487 2015
49
Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2. 61
25339128 2015
50
Familial renal glycosuria and modifications of glucose renal excretion. 61
25554066 2014
Sources

Variations for Renal Glucosuria

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ClinVar genetic disease variations for Renal Glucosuria:

6 (show top 50) (show all 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC5A2 NM_003041.3(SLC5A2):c.500delA (p.Gln167Argfs)deletion Pathogenic 12906 rs267607067 16:31497522-31497522 16:31486201-31486201
2 SLC5A2 NM_003041.4(SLC5A2):c.127-16C>ASNV Pathogenic 29880 rs398122801 16:31495978-31495978 16:31484657-31484657
3 SLC5A2 NM_003041.4(SLC5A2):c.1435C>G (p.Arg479Gly)SNV Pathogenic 29881 rs387906682 16:31500355-31500355 16:31489034-31489034
4 SLC5A2 NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu)SNV Pathogenic 29882 rs398122802 16:31496235-31496235 16:31484914-31484914
5 SLC5A2 NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr)SNV Pathogenic 253135 rs886037850 16:31496206-31496206 16:31484885-31484885
6 SLC5A2 NM_003041.4(SLC5A2):c.1291del (p.Val431fs)deletion Pathogenic 522538 rs1555496083 16:31500210-31500210 16:31488889-31488889
7 SLC5A2 NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter)SNV Pathogenic 12904 rs121918621 16:31500240-31500240 16:31488919-31488919
8 SLC5A2 NM_003041.4(SLC5A2):c.885+5G>ASNV Pathogenic/Likely pathogenic 632249 rs200228142 16:31499085-31499085 16:31487764-31487764
9 SLC5A2 NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys)SNV Likely pathogenic 522416 rs773289713 16:31500265-31500265 16:31488944-31488944
10 SLC5A2 NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp)SNV Likely pathogenic 438656 rs1309307492 16:31500445-31500445 16:31489124-31489124
11 SLC5A2 NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs)insertion Likely pathogenic 804477 16:31496235-31496236 16:31484914-31484915
12 SLC5A2 NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val)SNV Conflicting interpretations of pathogenicity 319062 rs150546732 16:31500217-31500217 16:31488896-31488896
13 SLC5A2 NM_003041.4(SLC5A2):c.1449+14G>ASNV Uncertain significance 319064 rs777309894 16:31500383-31500383 16:31489062-31489062
14 SLC5A2 NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=)SNV Uncertain significance 319072 rs767926604 16:31501478-31501478 16:31490157-31490157
15 SLC5A2 NM_003041.4(SLC5A2):c.1792+12T>CSNV Uncertain significance 319074 rs886051963 16:31501563-31501563 16:31490242-31490242
16 SLC5A2 NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser)SNV Uncertain significance 319075 rs201073991 16:31501681-31501681 16:31490360-31490360
17 SLC5A2 NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala)SNV Uncertain significance 319058 rs534057160 16:31499943-31499943 16:31488622-31488622
18 SLC5A2 NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr)SNV Uncertain significance 319060 rs141627694 16:31499958-31499958 16:31488637-31488637
19 SLC5A2 NM_003041.4(SLC5A2):c.1450-14T>CSNV Uncertain significance 319065 rs374122696 16:31500430-31500430 16:31489109-31489109
20 SLC5A2 NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu)SNV Uncertain significance 319076 rs535031004 16:31501714-31501714 16:31490393-31490393
21 SLC5A2 NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)SNV Uncertain significance 522721 rs1378076282 16:31497162-31497162 16:31485841-31485841
22 SLC5A2 NM_003041.4(SLC5A2):c.655+6G>CSNV Uncertain significance 638410 16:31498727-31498727 16:31487406-31487406
23 SLC5A2 NM_003041.4(SLC5A2):c.*70C>GSNV Uncertain significance 885764 16:31501926-31501926 16:31490605-31490605
24 SLC5A2 NM_003041.4(SLC5A2):c.*160C>TSNV Uncertain significance 885765 16:31502016-31502016 16:31490695-31490695
25 SLC5A2 NM_003041.4(SLC5A2):c.1021+14C>TSNV Uncertain significance 887917 16:31499508-31499508 16:31488187-31488187
26 SLC5A2 NM_003041.4(SLC5A2):c.1129+6G>ASNV Uncertain significance 887918 16:31499817-31499817 16:31488496-31488496
27 SLC5A2 NM_003041.4(SLC5A2):c.1449+13C>ASNV Uncertain significance 885710 16:31500382-31500382 16:31489061-31489061
28 SLC5A2 NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)SNV Uncertain significance 12905 rs61742739 16:31501798-31501798 16:31490477-31490477
29 SLC5A2 NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu)SNV Uncertain significance 319053 rs564249983 16:31494483-31494483 16:31483162-31483162
30 SLC5A2 NM_003041.4(SLC5A2):c.568G>A (p.Val190Met)SNV Uncertain significance 319056 rs138803748 16:31497590-31497590 16:31486269-31486269
31 SLC5A2 NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu)SNV Uncertain significance 319057 rs138795531 16:31498899-31498899 16:31487578-31487578
32 SLC5A2 NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala)SNV Uncertain significance 319063 rs886051961 16:31500227-31500227 16:31488906-31488906
33 SLC5A2 NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met)SNV Uncertain significance 319068 rs760834878 16:31500588-31500588 16:31489267-31489267
34 SLC5A2 NM_003041.4(SLC5A2):c.389G>A (p.Arg130His)SNV Uncertain significance 319054 rs886051960 16:31497135-31497135 16:31485814-31485814
35 SLC5A2 NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=)SNV Uncertain significance 319061 rs537643888 16:31500082-31500082 16:31488761-31488761
36 SLC5A2 NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys)SNV Uncertain significance 319082 rs760556743 16:31501770-31501770 16:31490449-31490449
37 SLC5A2 NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn)SNV Uncertain significance 829885 16:31496168-31496168 16:31484847-31484847
38 SLC5A2 NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr)SNV Uncertain significance 886662 16:31494476-31494476 16:31483155-31483155
39 SLC5A2 NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile)SNV Uncertain significance 886663 16:31496019-31496019 16:31484698-31484698
40 SLC5A2 NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu)SNV Uncertain significance 887915 16:31499359-31499359 16:31488038-31488038
41 SLC5A2 NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=)SNV Uncertain significance 887916 16:31499481-31499481 16:31488160-31488160
42 SLC5A2 NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)SNV Uncertain significance 887919 16:31499967-31499967 16:31488646-31488646
43 SLC5A2 NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro)SNV Uncertain significance 884765 16:31500078-31500078 16:31488757-31488757
44 SLC5A2 NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)SNV Uncertain significance 884766 16:31500088-31500088 16:31488767-31488767
45 SLC5A2 NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)SNV Uncertain significance 884767 16:31500286-31500286 16:31488965-31488965
46 SLC5A2 NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)SNV Uncertain significance 884768 16:31500329-31500329 16:31489008-31489008
47 SLC5A2 NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met)SNV Uncertain significance 884769 16:31500337-31500337 16:31489016-31489016
48 SLC5A2 NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)SNV Uncertain significance 885709 16:31500353-31500353 16:31489032-31489032
49 SLC5A2 NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)SNV Uncertain significance 886716 16:31500639-31500639 16:31489318-31489318
50 SLC5A2 NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=)SNV Uncertain significance 886718 16:31501550-31501550 16:31490229-31490229

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

73
# Symbol AA change Variation ID SNP ID
1 SLC5A2 p.Asn654Ser VAR_019310 rs61742739

Sources

Expression for Renal Glucosuria

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Search GEO for disease gene expression data for Renal Glucosuria.
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Pathways for Renal Glucosuria

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 13.04 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1 CLCNKA
2
Glycosaminoglycan metabolism 65
Show member pathways
 12.55 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1
3
Glucose / Energy Metabolism 4
12.21 SLC5A2 SLC5A1 SLC2A1 INS AQP2
4
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 64
11.79 SLC2A2 INS HNF1B
5
Insulin resistance 36
Show member pathways
 11.69 SLC2A2 SLC2A1 INS
6
Hepatic ABC Transporters 63
Show member pathways
 11.65 SLC2A2 INS HNF1B CLCNKA
7
Regulation of beta-cell development 65
Show member pathways
 11.63 SLC2A2 INS HNF1B
8
Type II diabetes mellitus 36 1
Show member pathways
 11.59 SLC2A2 INS HNF1B
9
NRF2 pathway 1
11.52 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1
10
Hexose transport 65
Show member pathways
 11.02 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1
11
Cori Cycle 1
10.54 SLC2A2 SLC2A1 INS
Sources

GO Terms for Renal Glucosuria

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.43 SLC5A1 SLC2A2 SLC2A1 SLC16A12 CLCNKA AQP2
2 cell-cell junction GO:0005911 9.33 SLC5A1 SLC2A2 SLC2A1
3 apical plasma membrane GO:0016324 9.02 TMEM235 SLC5A1 SLC2A2 SLC2A1 AQP2

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

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.65 SLC5A4 SLC5A2 SLC5A1
2 carbohydrate transport GO:0008643 9.56 SLC5A2 SLC5A1 SLC2A2 SLC2A1
3 transmembrane transport GO:0055085 9.56 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1 SLC16A12
4 sodium ion import across plasma membrane GO:0098719 9.46 SLC5A2 SLC5A1
5 hexose transmembrane transport GO:0008645 9.43 SLC5A2 SLC2A2
6 dehydroascorbic acid transport GO:0070837 9.4 SLC2A2 SLC2A1
7 intestinal hexose absorption GO:0106001 9.37 SLC5A1 SLC2A2
8 glucose import across plasma membrane GO:0098708 9.33 SLC5A2 SLC5A1 SLC2A1
9 alpha-glucoside transport GO:0000017 9.32 SLC5A2 SLC5A1
10 glucose transmembrane transport GO:1904659 9.02 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.61 SLC5A2 SLC5A1 SLC16A12
2 transmembrane transporter activity GO:0022857 9.55 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1
3 glucose transmembrane transporter activity GO:0005355 9.43 SLC5A1 SLC2A2 SLC2A1
4 dehydroascorbic acid transmembrane transporter activity GO:0033300 9.4 SLC2A2 SLC2A1
5 water transmembrane transporter activity GO:0005372 9.37 SLC5A1 AQP2
6 alpha-glucoside transmembrane transporter activity GO:0015151 9.32 SLC5A2 SLC5A1
7 glucose:sodium symporter activity GO:0005412 9.13 SLC5A4 SLC5A2 SLC5A1
8 D-glucose transmembrane transporter activity GO:0055056 8.92 SLC5A2 SLC5A1 SLC2A2 SLC2A1
Sources

Sources for Renal Glucosuria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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