GLYS
MCID: RNL024
MIFTS: 60

Renal Glucosuria (GLYS)

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

Aliases & Classifications for Renal Glucosuria

MalaCards integrated aliases for Renal Glucosuria:

Name: Renal Glucosuria 57 20 73 13
Familial Renal Glucosuria 58 36 29 6 71
Renal Glycosuria 12 74 20 15 17
Glycosuria, Renal 57 44 71
Glucosuria, Renal 73 39
Glys1 57 73
Glys 57 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®:

57 (Updated 05-Mar-2021)
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:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9432
OMIM® 57 233100
KEGG 36 H01126
ICD9CM 34 271.4
MeSH 44 D006030
SNOMED-CT 67 190759004
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

Summaries for Renal Glucosuria

GARD : 20 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 renal cysts and diabetes syndrome and aminoaciduria. 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, colon and bone, and related phenotypes are enuresis nocturna and polydipsia

OMIM® : 57 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) (Updated 05-Mar-2021)

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...

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 423)
# Related Disease Score Top Affiliating Genes
1 renal cysts and diabetes syndrome 31.3 HNF1B HNF1A
2 aminoaciduria 30.3 SLC5A2 HNF1A
3 diabetes insipidus 30.2 INS CLCNKA AQP2
4 fanconi-bickel syndrome 30.1 SLC2A2 INS
5 fanconi syndrome 30.0 SLC5A4 SLC5A2 SLC2A2 HNF1A
6 gestational diabetes 29.7 SLC2A1 INS HNF1A
7 hyperglycemia 29.7 SLC5A2 SLC5A1 SLC2A2 SLC2A1 INS HNF1A
8 insulinoma 29.6 SLC2A2 INS HNF1A
9 chronic kidney disease 29.5 SLC5A2 INS HNF1B AQP2
10 acute cystitis 29.5 SLC5A4 SLC5A2 SLC5A1 INS
11 hypoglycemia 29.5 SLC2A2 SLC2A1 INS
12 monogenic diabetes 29.4 INS HNF1B HNF1A
13 type 2 diabetes mellitus 28.9 SLC5A2 SLC2A2 SLC2A1 INS HNF1B HNF1A
14 cataract 47 11.5
15 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.9
16 stiff skin syndrome 10.9
17 diabetes insipidus, nephrogenic, autosomal 10.9
18 diabetes insipidus, nephrogenic, x-linked 10.9
19 helix syndrome 10.7
20 thalassemia 10.5
21 beta-thalassemia 10.3
22 rapidly involuting congenital hemangioma 10.3
23 fanconi-like syndrome 10.3 SLC5A2 SLC5A1
24 testicular sex cord-stromal neoplasm 10.3 SLC5A4 SLC5A2
25 testicular leydig cell tumor 10.3 SLC5A4 SLC5A2
26 hemoglobinopathy 10.3
27 vulvitis 10.3 SLC5A4 SLC5A2
28 osmotic diarrhea 10.2 SLC5A1 SLC2A2
29 glucose/galactose malabsorption 10.2
30 necrobiosis lipoidica 10.2 SLC2A1 INS
31 alpha-thalassemia 10.2
32 hemolytic anemia 10.2
33 brittle bone disorder 10.2
34 lateral sclerosis 10.2
35 pancreatic colloid cystadenoma 10.2 SLC5A4 SLC5A2 SLC5A1
36 balanoposthitis 10.2 SLC5A4 SLC5A2 SLC5A1
37 trigonitis 10.2 SLC5A4 SLC5A2 SLC5A1
38 maturity-onset diabetes of the young, type 10 10.1 INS HNF1B
39 amyotrophic lateral sclerosis 1 10.1
40 pain agnosia 10.1
41 mouth disease 10.1
42 vulvovaginitis 10.1 SLC5A4 SLC5A2 SLC5A1
43 chicken egg allergy 10.1 SLC5A4 SLC5A2 SLC5A1
44 pyelonephritis 10.1
45 idiopathic edema 10.1 INS AQP2
46 osteogenic sarcoma 10.1
47 pertussis 10.1
48 fibrosarcoma 10.1
49 splenic flexure cancer 10.1 SLC5A4 SLC5A2 INS
50 silent myocardial infarction 10.1 SLC5A4 SLC5A2 INS

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

Symptoms & Phenotypes for Renal Glucosuria

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Renal Glucosuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ALPK3 AQP2 CAMKV CLCNKA HNF1A INS
2 growth/size/body region MP:0005378 9.7 ALPK3 AQP2 CLCNKA HNF1A HNF1B INS
3 digestive/alimentary MP:0005381 9.63 CAMKV CLCNKA HNF1A INS SLC5A1 SLC5A2
4 renal/urinary system MP:0005367 9.17 AQP2 CLCNKA HNF1A HNF1B INS SLC5A1

Drugs & Therapeutics for Renal Glucosuria

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

(show top 50) (show all 57)
# 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
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
4
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
5
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
6 Angiotensin-Converting Enzyme Inhibitors Phase 4
7 Angiotensin Receptor Antagonists Phase 4
8 HIV Protease Inhibitors Phase 4
9
protease inhibitors Phase 4
10 Cardiotonic Agents Phase 4
11 Angiotensinogen Phase 4
12 Protective Agents Phase 4
13 Giapreza Phase 4
14 Angiotensin II Type 1 Receptor Blockers Phase 4
15 Antihypertensive Agents Phase 4
16
Cycloserine Approved Phase 2 68-41-7 401 6234
17
Neostigmine Approved, Vet_approved Phase 2 59-99-4 4456
18
Vildagliptin Approved, Investigational Phase 2 274901-16-5 6918537
19
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
20
Aspartic acid Approved, Nutraceutical Phase 2 56-84-8 5960
21 Neurotransmitter Agents Phase 2
22 Antibiotics, Antitubercular Phase 2
23 Anti-Infective Agents Phase 2
24 Antitubercular Agents Phase 2
25 Antimetabolites Phase 2
26 Anti-Bacterial Agents Phase 2
27 N-Methylaspartate Phase 2
28 Anesthetics Phase 2
29 Cholinergic Agents Phase 2
30 Cholinergic Antagonists Phase 2
31 Muscarinic Antagonists Phase 2
32
Glycopyrrolate Phase 2 596-51-0 3494
33 Dipeptidyl-Peptidase IV Inhibitors Phase 2
34 Hypoglycemic Agents Phase 2
35
Mechlorethamine Approved, Investigational Phase 1 51-75-2 4033
36 Cola Phase 1
37 glutamine Phase 1
38 lysine Phase 1
39
Montelukast Approved 158966-92-8 5281040
40
Glucagon Approved 16941-32-5
41
Thrombin Approved, Investigational
42
Protein C Approved
43 Respiratory System Agents
44 Anti-Asthmatic Agents
45 Adrenergic beta-Agonists
46 Hormone Antagonists
47 Hormones
48
Salmeterol xinafoate 94749-08-3 56801
49 Adrenergic Agents
50 Leukotriene Antagonists

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN) Completed NCT00708981 Phase 4
2 Antiproteinuric Effect of Valsartan, Lisinopril and Valsartan Plus Lisinopril in Non-diabetic and Diabetic Renal Disease: a Randomized, Double Blind, Parallel Group, Controlled Trial With 5 Months Follow-up Completed NCT00171574 Phase 4 Valsartan;Valsartan plus HCTZ;Lisinopril
3 A Dose-ranging Study to Evaluate the Safety, Metabolism and Therapeutic Dosing of Three Multiple Dose Levels of GLY-230 in Healthy and Diabetic Subjects Completed NCT00544934 Phase 1, Phase 2 GLY-230
4 N-methyl-D-aspartate Receptor (NMDAR)-Based Pharmacotherapy With D-cycloserine for Treatment-resistant Major Depressive Disorder Completed NCT00408031 Phase 2 D-cycloserine
5 Intranasal Administration of Neostigmine and Glycopyrrolate for Bowel Evacuation Completed NCT00855283 Phase 2 IN NEO;IN NEO;IN NEO;IN NEO + IN Glycopyrrolate;IV Visit
6 Glucose Control in Pre-Diabetic Renal Transplant Patients: Efficacy and Safety of Vildagliptin and Pioglitazone Completed NCT01346254 Phase 2 Vildagliptin;Pioglitazone
7 Phase 1 Study of Anti-glycation Agent GLY-230 Completed NCT00544921 Phase 1 GLY-230
8 Phase IB Study of QRH-882260 Heptapeptide Application in the Colon Terminated NCT03148119 Phase 1 QRH-882260 Heptapeptide
9 Prescribing Asthma Controller Medication According to Gene Status to Improve Quality of Life in Young People With Asthma Completed NCT02758873
10 Human SLC5A2 Deficiency and the Glucagon-Incretin Axis: A Pilot Study Recruiting NCT03965000
11 Coagulation Assays in the Critically Ill Patient: a New Approach Using the Thrombomodulin-modified Thrombin Generation Assay (TGA-TM) Recruiting NCT04356144
12 Digital Adherence Monitoring of Inhalative Therapy in Real- Life Conditions Recruiting NCT04656223 FDC therapy

Search NIH Clinical Center for Renal Glucosuria

Cochrane evidence based reviews: glycosuria, renal

Genetic Tests for Renal Glucosuria

Genetic tests related to Renal Glucosuria:

# Genetic test Affiliating Genes
1 Familial Renal Glucosuria 29 SLC5A2

Anatomical Context for Renal Glucosuria

MalaCards organs/tissues related to Renal Glucosuria:

40
Kidney, Colon, Bone, Spinal Cord, Heart, Pineal, Pituitary
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

Publications for Renal Glucosuria

Articles related to Renal Glucosuria:

(show top 50) (show all 335)
# Title Authors PMID Year
1
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria. 61 57 6
26376857 2016
2
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. 57 6 61
21165652 2011
3
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). 61 6 57
12436245 2002
4
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. 61 57
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. 57 61
8282810 1994
7
Complete absence of tubular glucose reabsorption: a new type of renal glucosuria (type 0). 57 61
3568462 1987
8
Close genetic linkage between HLA and renal glycosuria. 61 57
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 57
6828258 1983
10
Autosomal recessive inheritance of renal glycosuria. 61 57
5097684 1971
11
Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine. 61 57
5822589 1969
12
THE INHERITANCE OF RENAL GLYCOSURIA. 57 61
14174800 1964
13
[Idiopathic renal glycosuria; 3 generations of a severely handicapped family]. 61 57
13517633 1958
14
Renal and intestinal hexose transport in familial glucose-galactose malabsorption. 57
5415683 1970
15
RENAL DIABETES AS A CONGENITAL TUBULAR DYSPLASIA. 57
14181149 1964
16
Clinical and laboratory clues of maturity-onset diabetes of the young and determination of association with molecular diagnosis. 61
32710514 2021
17
Decitabine-induced kidney thrombotic microangiopathy with glomerular crescents formation and tubular necrosis: A case report. 61
33120841 2020
18
Persistently high urine glucose levels caused by familial renal glycosuria. 61
32807621 2020
19
Acquired Fanconi Syndrome in a Patient with Nontyphoidal Salmonella Bacteremia. 61
32999244 2020
20
Urinary Concentration Defect and Renal Glycosuria in Cyclosporine-treated Rats. 61
32655650 2020
21
Nephrological disorders and neurological involvement in pediatric primary Sjogren syndrome:a case report and review of literature. 61
32448292 2020
22
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
23
Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children. 61
32034166 2020
24
Empagliflozin for the Treatment of Nonalcoholic Steatohepatitis in Patients with Type 2 Diabetes Mellitus. 61
30684076 2020
25
SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families. 61
32111189 2020
26
Tubuloglomerular Feedback in Renal Glucosuria: Mimicking Long-term SGLT-2 Inhibitor Therapy. 61
32734228 2020
27
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay. 61
33250922 2020
28
Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease. 61
31286439 2019
29
Renal glycosuria as a novel early sign of colistin-induced kidney damage in mice. 61
31591120 2019
30
Sodium-Glucose Cotransporter-2 Inhibitors: Lack of a Complete History Delays Diagnosis. 61
31525753 2019
31
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
32
Sodium-glucose cotransporter 2 inhibition as a potential treatment for idiopathic oedema. 61
31383344 2019
33
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
34
What does sodium-glucose co-transporter 1 inhibition add: Prospects for dual inhibition. 61
31081587 2019
35
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
36
Basal glucosuria in cats. 61
30375076 2019
37
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 61
30899310 2018
38
Acquired renal glucosuria in an undifferentiated connective tissue disease patient with a SLC5A2 heterozygous mutation: A case report. 61
30558067 2018
39
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. 61
30200082 2018
40
Renal glucosuria in schoolchildren: Clinical characteristics. 61
29110414 2018
41
Novel and Unexpected Functions of SGLTs. 61
29021363 2017
42
Accelerated oligosaccharide absorption and altered serum metabolites during oral glucose tolerance test in young Japanese with impaired glucose tolerance. 61
28766917 2017
43
Protective Role of Apelin Against Cyclosporine-Induced Renal Tubular Injury in Rats. 61
28736029 2017
44
Genetic analysis and literature review of Chinese patients with familial renal glucosuria: Identification of a novel SLC5A2 mutation. 61
28365451 2017
45
Renal glucosuria is not associated with atherosclerotic cardiovascular disease outcome in a general Japanese community. 61
28242048 2017
46
Clinical and Genetic Features of Patients With Type 2 Diabetes and Renal Glycosuria. 61
28324025 2017
47
MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2. 61
27288013 2017
48
A Case of Isolated Glycosuria Mediated by an SLC5A2 Gene Mutation and Characterized by Postprandial Heavy Glycosuria Without Salt Wasting. 61
28275387 2016
49
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. 61
27666404 2016
50
Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. 61
27446256 2016

Variations for Renal Glucosuria

ClinVar genetic disease variations for Renal Glucosuria:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC5A2 NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter) SNV Pathogenic 12904 rs121918621 16:31500240-31500240 16:31488919-31488919
2 SLC5A2 NM_003041.3(SLC5A2):c.500delA (p.Gln167Argfs) Deletion Pathogenic 12906 rs267607067 16:31497522-31497522 16:31486201-31486201
3 SLC5A2 NM_003041.4(SLC5A2):c.127-16C>A SNV Pathogenic 29880 rs398122801 16:31495978-31495978 16:31484657-31484657
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.1435C>G (p.Arg479Gly) SNV Pathogenic 29881 rs387906682 16:31500355-31500355 16:31489034-31489034
7 SLC5A2 NM_003041.4(SLC5A2):c.1291del (p.Val431fs) Deletion Pathogenic 522538 rs1555496083 16:31500210-31500210 16:31488889-31488889
8 SLC5A2 NM_003041.4(SLC5A2):c.885+5G>A SNV Pathogenic/Likely pathogenic 632249 rs200228142 16:31499085-31499085 16:31487764-31487764
9 SLC5A2 NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) Deletion Likely pathogenic 420178 rs770588592 16:31499955-31499966 16:31488634-31488645
10 SLC5A2 NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) Insertion Likely pathogenic 804477 rs770214617 16:31496235-31496236 16:31484914-31484915
11 SLC5A2 NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) SNV Likely pathogenic 438656 rs1309307492 16:31500445-31500445 16:31489124-31489124
12 SLC5A2 NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) SNV Likely pathogenic 522416 rs773289713 16:31500265-31500265 16:31488944-31488944
13 SLC5A2 NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) SNV Uncertain significance 522721 rs1378076282 16:31497162-31497162 16:31485841-31485841
14 SLC5A2 NM_003041.4(SLC5A2):c.655+6G>C SNV Uncertain significance 638410 rs779984246 16:31498727-31498727 16:31487406-31487406
15 SLC5A2 NM_003041.4(SLC5A2):c.1449+14G>A SNV Uncertain significance 319064 rs777309894 16:31500383-31500383 16:31489062-31489062
16 SLC5A2 NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=) SNV Uncertain significance 319061 rs537643888 16:31500082-31500082 16:31488761-31488761
17 RUSF1 NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp) SNV Uncertain significance 319073 rs149525864 16:31501532-31501532 16:31490211-31490211
18 SLC5A2 NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val) SNV Uncertain significance 319069 rs199521654 16:31500597-31500597 16:31489276-31489276
19 SLC5A2 NM_003041.4(SLC5A2):c.1450-4G>A SNV Uncertain significance 319066 rs886051962 16:31500440-31500440 16:31489119-31489119
20 RUSF1 NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser) SNV Uncertain significance 319075 rs201073991 16:31501681-31501681 16:31490360-31490360
21 RUSF1 NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=) SNV Uncertain significance 319072 rs767926604 16:31501478-31501478 16:31490157-31490157
22 SLC5A2 NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala) SNV Uncertain significance 319058 rs534057160 16:31499943-31499943 16:31488622-31488622
23 SLC5A2 NM_003041.4(SLC5A2):c.469-3A>T SNV Uncertain significance 319055 rs369221516 16:31497488-31497488 16:31486167-31486167
24 RUSF1 NM_003041.4(SLC5A2):c.1889_1891AGG[2] (p.Glu632del) Microsatellite Uncertain significance 319078 rs771257793 16:31501726-31501728 16:31490405-31490407
25 SLC5A2 NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=) SNV Uncertain significance 319067 rs201859484 16:31500449-31500449 16:31489128-31489128
26 SLC5A2 NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=) SNV Uncertain significance 319059 rs761863294 16:31499950-31499950 16:31488629-31488629
27 SLC5A2 NM_003041.4(SLC5A2):c.568G>A (p.Val190Met) SNV Uncertain significance 319056 rs138803748 16:31497590-31497590 16:31486269-31486269
28 SLC5A2 NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu) SNV Uncertain significance 319053 rs564249983 16:31494483-31494483 16:31483162-31483162
29 RUSF1 NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala) SNV Uncertain significance 319079 rs753477563 16:31501732-31501732 16:31490411-31490411
30 RUSF1 NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu) SNV Uncertain significance 319076 rs535031004 16:31501714-31501714 16:31490393-31490393
31 RUSF1 NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys) SNV Uncertain significance 319082 rs760556743 16:31501770-31501770 16:31490449-31490449
32 SLC5A2 NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met) SNV Uncertain significance 319068 rs760834878 16:31500588-31500588 16:31489267-31489267
33 SLC5A2 NM_003041.4(SLC5A2):c.1450-14T>C SNV Uncertain significance 319065 rs374122696 16:31500430-31500430 16:31489109-31489109
34 SLC5A2 NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val) SNV Uncertain significance 319062 rs150546732 16:31500217-31500217 16:31488896-31488896
35 RUSF1 NM_003041.4(SLC5A2):c.1792+12T>C SNV Uncertain significance 319074 rs886051963 16:31501563-31501563 16:31490242-31490242
36 RUSF1 NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=) SNV Uncertain significance 319071 rs147697689 16:31501451-31501451 16:31490130-31490130
37 SLC5A2 NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) SNV Uncertain significance 319054 rs886051960 16:31497135-31497135 16:31485814-31485814
38 SLC5A2 NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala) SNV Uncertain significance 319063 rs886051961 16:31500227-31500227 16:31488906-31488906
39 RUSF1 NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr) SNV Uncertain significance 319083 rs775638719 16:31501819-31501819 16:31490498-31490498
40 SLC5A2 NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr) SNV Uncertain significance 319060 rs141627694 16:31499958-31499958 16:31488637-31488637
41 SLC5A2 NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu) SNV Uncertain significance 319057 rs138795531 16:31498899-31498899 16:31487578-31487578
42 RUSF1 NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=) SNV Uncertain significance 319080 rs372404252 16:31501739-31501739 16:31490418-31490418
43 SLC5A2 NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn) SNV Uncertain significance 829885 rs762905275 16:31496168-31496168 16:31484847-31484847
44 SLC5A2 NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro) SNV Uncertain significance 884765 16:31500078-31500078 16:31488757-31488757
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 RUSF1 NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe) SNV Uncertain significance 884835 16:31501849-31501849 16:31490528-31490528
49 RUSF1 NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=) SNV Uncertain significance 884836 16:31501850-31501850 16:31490529-31490529
50 SLC5A2 NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) SNV Uncertain significance 885709 16:31500353-31500353 16:31489032-31489032

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

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

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1 CLCNKA
2
Show member pathways
12.63 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1
3 12.12 SLC5A2 SLC5A1 SLC2A1 INS HNF1A AQP2
4 11.82 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1
5 11.81 SLC2A2 INS HNF1B
6
Show member pathways
11.71 SLC2A2 SLC2A1 INS
7
Show member pathways
11.71 SLC2A2 INS HNF1B HNF1A
8
Show member pathways
11.65 SLC2A2 INS HNF1B HNF1A
9
Show member pathways
11.45 SLC2A2 INS HNF1B HNF1A CLCNKA
10 11.25 SLC2A2 INS HNF1A
11
Show member pathways
11.02 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1
12 10.7 SLC2A2 SLC2A1 INS

GO Terms for Renal Glucosuria

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:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.69 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 insulin secretion GO:0030073 9.55 HNF1B HNF1A
5 pancreas development GO:0031016 9.54 HNF1B HNF1A
6 endocrine pancreas development GO:0031018 9.52 HNF1B HNF1A
7 sodium ion import across plasma membrane GO:0098719 9.49 SLC5A2 SLC5A1
8 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.48 HNF1B HNF1A
9 hexose transmembrane transport GO:0008645 9.46 SLC5A2 SLC2A2
10 dehydroascorbic acid transport GO:0070837 9.43 SLC2A2 SLC2A1
11 intestinal hexose absorption GO:0106001 9.4 SLC5A1 SLC2A2
12 regulation of pronephros size GO:0035565 9.37 HNF1B HNF1A
13 glucose import across plasma membrane GO:0098708 9.33 SLC5A2 SLC5A1 SLC2A1
14 alpha-glucoside transport GO:0000017 9.32 SLC5A2 SLC5A1
15 glucose transmembrane transport GO:1904659 8.92 SLC5A4 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 glucose transmembrane transporter activity GO:0005355 9.43 SLC5A1 SLC2A2 SLC2A1
3 transmembrane transporter activity GO:0022857 9.43 SLC5A4 SLC5A2 SLC5A1 SLC2A2 SLC2A1 SLC16A12
4 dehydroascorbic acid transmembrane transporter activity GO:0033300 9.4 SLC2A2 SLC2A1
5 water transmembrane transporter activity GO:0005372 9.37 SLC5A1 AQP2
6 glucose:sodium symporter activity GO:0005412 9.33 SLC5A4 SLC5A2 SLC5A1
7 alpha-glucoside transmembrane transporter activity GO:0015151 9.32 SLC5A2 SLC5A1
8 D-glucose transmembrane transporter activity GO:0055056 8.92 SLC5A2 SLC5A1 SLC2A2 SLC2A1

Sources for Renal Glucosuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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