Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
GLYS
MCID: RNL024
MIFTS: 53

Renal Glucosuria (GLYS)

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

Aliases & Classifications for Renal Glucosuria

About this section

MalaCards integrated aliases for Renal Glucosuria:

Name: Renal Glucosuria 57 53 75 13
Familial Renal Glucosuria 59 37 29 6 73
Renal Glycosuria 38 12 76 53 15
Glycosuria, Renal 57 44 73
Glucosuria, Renal 75 40
Glys1 57 75
Glys 57 75
Sglt2 Deficiency 59
Renal Diabetes 12
Diabetes Renal 55
Gly 76

Characteristics:

Orphanet epidemiological data:

59
familial renal glucosuria
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

57
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:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare renal diseases
Inborn errors of metabolism


External Ids:

OMIM 57 233100
Disease Ontology 12 DOID:9432
ICD10 33 E74.8
ICD9CM 35 271.4
MeSH 44 D006030
SNOMED-CT 68 1913007
Orphanet 59 ORPHA69076
UMLS via Orphanet 74 C0017980 C3245525
ICD10 via Orphanet 34 E74.8
MedGen 42 C0017980
KEGG 37 H01126
Sources

Summaries for Renal Glucosuria

About this section
NIH Rare Diseases : 53 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.

MalaCards based summary : Renal Glucosuria, also known as familial renal glucosuria, is related to hyperglycemia and maturity-onset diabetes of the young, type 1. 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, kidney and bone, and related phenotypes are polydipsia and polyphagia

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

Sources

Related Diseases for Renal Glucosuria

About this section

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

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 hyperglycemia 29.3 SLC2A1 SLC2A2 SLC5A2
2 maturity-onset diabetes of the young, type 1 28.9 HNF1B SLC2A2 SLC5A2
3 diabetes mellitus, noninsulin-dependent 28.9 HNF1B SLC2A1 SLC2A2 SLC5A2
4 cataract 47 11.9
5 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.1
6 perrault syndrome 1 11.1
7 renal cysts and diabetes syndrome 11.0
8 diabetes insipidus, nephrogenic, autosomal 10.9
9 diabetes insipidus, nephrogenic, x-linked 10.9
10 thalassemia 10.2
11 alpha-thalassemia 10.2
12 pyelonephritis 10.1
13 neuroblastoma 10.1
14 brittle bone disorder 10.1
15 aminoaciduria 10.1
16 fanconi-like syndrome 10.0 ATP6V0A4 SLC5A2
17 glucose metabolism disease 10.0 SLC2A2 SLC5A2
18 beta-thalassemia 10.0
19 hypophosphatemic rickets, x-linked recessive 10.0
20 glucose/galactose malabsorption 10.0
21 cataract 10.0
22 diabetes mellitus 10.0
23 rickets 10.0
24 tetanus 10.0
25 atrophy of prostate 10.0 SLC2A1 SLC2A2
26 acquired metabolic disease 10.0 SLC2A2 SLC5A2
27 alzheimer disease 9.9
28 von willebrand's disease 9.9
29 renal fibrosis 9.9
30 testis seminoma 9.9 SLC2A1 SLC2A2
31 microvascular complications of diabetes 3 9.9
32 microvascular complications of diabetes 4 9.9
33 microvascular complications of diabetes 6 9.9
34 microvascular complications of diabetes 7 9.9
35 hypertension, essential 9.9
36 osteoporosis 9.9
37 pentosuria 9.9
38 osteomalacia 9.9
39 fanconi syndrome 9.9
40 interstitial nephritis 9.9
41 chronic pyelonephritis 9.9
42 nephrotic syndrome 9.9
43 hypercalcemic sarcoidosis 9.9
44 acute pyelonephritis 9.9
45 hypopituitarism 9.9
46 amyotrophic lateral sclerosis 1 9.8
47 alopecia, androgenetic, 1 9.8
48 acute insulin response 9.8
49 alopecia 9.8
50 hemolytic anemia 9.8

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
Sources

Symptoms & Phenotypes for Renal Glucosuria

About this section

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Renal Glucosuria:

32
# Description HPO Frequency HPO Source Accession
1 polydipsia 32 HP:0001959
2 polyphagia 32 HP:0002591
3 enuresis nocturna 32 occasional (7.5%) HP:0010677
4 glycosuria 32 HP:0003076
5 polyuria 32 HP:0000103

MGI Mouse Phenotypes related to Renal Glucosuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 ATP6V0A4 HNF1B SLC2A1 SLC2A2 SLC5A1 SLC5A2
2 homeostasis/metabolism MP:0005376 9.43 ATP6V0A4 HNF1B SLC2A1 SLC2A2 SLC5A1 SLC5A2
3 renal/urinary system MP:0005367 8.92 ATP6V0A4 HNF1B SLC5A1 SLC5A2
Sources

Drugs & Therapeutics for Renal Glucosuria

About this section

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

(show all 15)
# 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 Angiotensin-Converting Enzyme Inhibitors Phase 4
4
Apixaban Approved 503612-47-3 10182969
5
Thrombin Approved, Investigational
6
Rivaroxaban Approved 366789-02-8
7
Serine Approved, Nutraceutical 56-45-1 5951
8 Factor Xa Inhibitors
9 Serine Proteinase Inhibitors
10 HIV Protease Inhibitors
11
protease inhibitors
12 Antithrombin III
13 Antithrombins
14 Anticoagulants
15 Dabigatran

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN) Completed NCT00708981 Phase 4
2 Use of Direct Oral Anticoagulants in UK Completed NCT03119116 Rivaroxaban (Xarelto, BAY59-7939);Dabigatran;Apixaban

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

About this section

MalaCards organs/tissues related to Renal Glucosuria:

41
Kidney, Bone, Brain, Liver, Heart, Thyroid, Bone Marrow
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

About this section

Articles related to Renal Glucosuria:

(show all 40)
# Title Authors Year
1
Renal glucosuria in schoolchildren: Clinical characteristics. ( 29110414 )
2018
2
Genetic analysis and literature review of Chinese patients with familial renal glucosuria: Identification of a novel SLC5A2 mutation. ( 28365451 )
2017
3
Renal glucosuria is not associated with atherosclerotic cardiovascular disease outcome in a general Japanese community. ( 28242048 )
2017
4
Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. ( 27446256 )
2016
5
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. ( 27666404 )
2016
6
Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria. ( 25896487 )
2015
7
Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2. ( 25339128 )
2015
8
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
9
Hypouricaemia and hyperuricosuria in familial renal glucosuria. ( 26064518 )
2013
10
Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene. ( 24255686 )
2013
11
Familial renal glucosuria: a clinicogenetic study of 23 additional cases. ( 22314875 )
2012
12
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. ( 21165652 )
2011
13
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. ( 19965550 )
2010
14
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. ( 18304496 )
2008
15
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
16
Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. ( 16518345 )
2006
17
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. ( 15610225 )
2005
18
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. ( 14614622 )
2004
19
Gene Symbol: SLC55A2. Disease: familial renal glucosuria. ( 15300967 )
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
A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria. ( 15496564 )
2004
23
Molecular analysis of the SGLT2 gene in patients with renal glucosuria. ( 14569097 )
2003
24
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). ( 12436245 )
2002
25
Identification of a novel form of renal glucosuria with overexcretion of arginine, carnosine, and taurine. ( 11325687 )
2001
26
Serum fructosamine measurement: a new diagnostic approach to renal glucosuria in dogs. ( 10607507 )
1999
27
Transient renal glucosuria in patients with tetanus. ( 9807038 )
1998
28
Hypercalciuria in renal glucosuria. ( 8992866 )
1996
29
Physiopathologic mechanism of hypercalciuria in renal glucosuria. ( 8410529 )
1993
30
Type O renal glucosuria. ( 2028783 )
1991
31
Renal glucosuria. ( 3153324 )
1987
32
Complete absence of tubular glucose reabsorption: a new type of renal glucosuria (type 0). ( 3568462 )
1987
33
Kinetics of glucose handling in renal glucosuria during pregnancy. ( 7464008 )
1980
34
Renal glucosuria and aminoaciduria. ( 899885 )
1977
35
Pregnancy associated with renal glucosuria. ( 1246390 )
1976
36
Glucose-galactose malabsorption. Studies on renal glucosuria. ( 5438804 )
1970
37
T-m-limited renal tubular reabsorption and the genetics of renal glucosuria. ( 5961531 )
1966
38
HYPOPHOSPHATEMIC RICKETS WITH RENAL HYPER-GLYCINURIA, RENAL GLUCOSURIA, AND GLYCYL-PROLINURIA. A SYNDROME WITH EVIDENCE FOR RENAL TUBULAR SECRETION OF PHOSPHORUS. ( 14211102 )
1964
39
Diabetes mellitus and preexisting renal glucosuria. ( 13887941 )
1962
40
The mechanisms of renal glucosuria in pregnancy. ( 13784281 )
1960
Sources

Variations for Renal Glucosuria

About this section

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

75
# Symbol AA change Variation ID SNP ID
1 SLC5A2 p.Asn654Ser VAR_019310 rs61742739

ClinVar genetic disease variations for Renal Glucosuria:

6 (show top 50) (show all 86)
# 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.1320G> A (p.Trp440Ter) single nucleotide variant Pathogenic rs121918621 GRCh38 Chromosome 16, 31488919: 31488919
3 SLC5A2 NM_003041.3(SLC5A2): c.1961A> G (p.Asn654Ser) single nucleotide variant Pathogenic rs61742739 GRCh37 Chromosome 16, 31501798: 31501798
4 SLC5A2 NM_003041.3(SLC5A2): c.1961A> G (p.Asn654Ser) single nucleotide variant Pathogenic rs61742739 GRCh38 Chromosome 16, 31490477: 31490477
5 SLC5A2 NM_003041.3(SLC5A2): c.500delA (p.Gln167Argfs) deletion Pathogenic rs267607067 GRCh37 Chromosome 16, 31497522: 31497522
6 SLC5A2 NM_003041.3(SLC5A2): c.500delA (p.Gln167Argfs) deletion Pathogenic rs267607067 GRCh38 Chromosome 16, 31486201: 31486201
7 SLC5A2 NM_003041.3(SLC5A2): c.127-16C> A single nucleotide variant Pathogenic rs398122801 GRCh37 Chromosome 16, 31495978: 31495978
8 SLC5A2 NM_003041.3(SLC5A2): c.127-16C> A single nucleotide variant Pathogenic rs398122801 GRCh38 Chromosome 16, 31484657: 31484657
9 SLC5A2 NM_003041.3(SLC5A2): c.1435C> G (p.Arg479Gly) single nucleotide variant Pathogenic rs387906682 GRCh37 Chromosome 16, 31500355: 31500355
10 SLC5A2 NM_003041.3(SLC5A2): c.1435C> G (p.Arg479Gly) single nucleotide variant Pathogenic rs387906682 GRCh38 Chromosome 16, 31489034: 31489034
11 SLC5A2 NM_003041.3(SLC5A2): c.294C> A (p.Phe98Leu) single nucleotide variant Pathogenic rs398122802 GRCh37 Chromosome 16, 31496235: 31496235
12 SLC5A2 NM_003041.3(SLC5A2): c.294C> A (p.Phe98Leu) single nucleotide variant Pathogenic rs398122802 GRCh38 Chromosome 16, 31484914: 31484914
13 SLC5A2 NM_003041.3(SLC5A2): c.265G> A (p.Ala89Thr) single nucleotide variant Pathogenic rs886037850 GRCh38 Chromosome 16, 31484885: 31484885
14 SLC5A2 NM_003041.3(SLC5A2): c.265G> A (p.Ala89Thr) single nucleotide variant Pathogenic rs886037850 GRCh37 Chromosome 16, 31496206: 31496206
15 SLC5A2 NM_003041.3(SLC5A2): c.469-3A> T single nucleotide variant Uncertain significance rs369221516 GRCh38 Chromosome 16, 31486167: 31486167
16 SLC5A2 NM_003041.3(SLC5A2): c.469-3A> T single nucleotide variant Uncertain significance rs369221516 GRCh37 Chromosome 16, 31497488: 31497488
17 SLC5A2 NM_003041.3(SLC5A2): c.1137C> T (p.Arg379=) single nucleotide variant Uncertain significance rs761863294 GRCh38 Chromosome 16, 31488629: 31488629
18 SLC5A2 NM_003041.3(SLC5A2): c.1137C> T (p.Arg379=) single nucleotide variant Uncertain significance rs761863294 GRCh37 Chromosome 16, 31499950: 31499950
19 SLC5A2 NM_003041.3(SLC5A2): c.1450-4G> A single nucleotide variant Uncertain significance rs886051962 GRCh38 Chromosome 16, 31489119: 31489119
20 SLC5A2 NM_003041.3(SLC5A2): c.1450-4G> A single nucleotide variant Uncertain significance rs886051962 GRCh37 Chromosome 16, 31500440: 31500440
21 SLC5A2 NM_003041.3(SLC5A2): c.1455C> T (p.Ala485=) single nucleotide variant Uncertain significance rs201859484 GRCh38 Chromosome 16, 31489128: 31489128
22 SLC5A2 NM_003041.3(SLC5A2): c.1455C> T (p.Ala485=) single nucleotide variant Uncertain significance rs201859484 GRCh37 Chromosome 16, 31500449: 31500449
23 SLC5A2 NM_003041.3(SLC5A2): c.1603T> G (p.Phe535Val) single nucleotide variant Uncertain significance rs199521654 GRCh38 Chromosome 16, 31489276: 31489276
24 SLC5A2 NM_003041.3(SLC5A2): c.1603T> G (p.Phe535Val) single nucleotide variant Uncertain significance rs199521654 GRCh37 Chromosome 16, 31500597: 31500597
25 SLC5A2 NM_003041.3(SLC5A2): c.1692G> A (p.Arg564=) single nucleotide variant Uncertain significance rs147697689 GRCh38 Chromosome 16, 31490130: 31490130
26 SLC5A2 NM_003041.3(SLC5A2): c.1692G> A (p.Arg564=) single nucleotide variant Uncertain significance rs147697689 GRCh37 Chromosome 16, 31501451: 31501451
27 SLC5A2 NM_003041.3(SLC5A2): c.1773G> T (p.Glu591Asp) single nucleotide variant Uncertain significance rs149525864 GRCh38 Chromosome 16, 31490211: 31490211
28 SLC5A2 NM_003041.3(SLC5A2): c.1773G> T (p.Glu591Asp) single nucleotide variant Uncertain significance rs149525864 GRCh37 Chromosome 16, 31501532: 31501532
29 SLC5A2 NM_003041.3(SLC5A2): c.1895A> C (p.Glu632Ala) single nucleotide variant Uncertain significance rs753477563 GRCh37 Chromosome 16, 31501732: 31501732
30 SLC5A2 NM_003041.3(SLC5A2): c.1895A> C (p.Glu632Ala) single nucleotide variant Uncertain significance rs753477563 GRCh38 Chromosome 16, 31490411: 31490411
31 SLC5A2 NM_003041.3(SLC5A2): c.1895_1897delAGG (p.Glu632del) deletion Uncertain significance rs886051964 GRCh37 Chromosome 16, 31501732: 31501734
32 SLC5A2 NM_003041.3(SLC5A2): c.1895_1897delAGG (p.Glu632del) deletion Uncertain significance rs886051964 GRCh38 Chromosome 16, 31490411: 31490413
33 SLC5A2 NM_003041.3(SLC5A2): c.1902G> A (p.Ala634=) single nucleotide variant Uncertain significance rs372404252 GRCh37 Chromosome 16, 31501739: 31501739
34 SLC5A2 NM_003041.3(SLC5A2): c.1902G> A (p.Ala634=) single nucleotide variant Uncertain significance rs372404252 GRCh38 Chromosome 16, 31490418: 31490418
35 SLC5A2 NM_003041.3(SLC5A2): c.1982T> C (p.Met661Thr) single nucleotide variant Uncertain significance rs775638719 GRCh37 Chromosome 16, 31501819: 31501819
36 SLC5A2 NM_003041.3(SLC5A2): c.1982T> C (p.Met661Thr) single nucleotide variant Uncertain significance rs775638719 GRCh38 Chromosome 16, 31490498: 31490498
37 SLC5A2 NM_003041.3(SLC5A2): c.*63G> A single nucleotide variant Uncertain significance rs114517938 GRCh37 Chromosome 16, 31501919: 31501919
38 SLC5A2 NM_003041.3(SLC5A2): c.*63G> A single nucleotide variant Uncertain significance rs114517938 GRCh38 Chromosome 16, 31490598: 31490598
39 SLC5A2 NM_003041.3(SLC5A2): c.389G> A (p.Arg130His) single nucleotide variant Uncertain significance rs886051960 GRCh38 Chromosome 16, 31485814: 31485814
40 SLC5A2 NM_003041.3(SLC5A2): c.389G> A (p.Arg130His) single nucleotide variant Uncertain significance rs886051960 GRCh37 Chromosome 16, 31497135: 31497135
41 SLC5A2 NM_003041.3(SLC5A2): c.1269G> T (p.Leu423=) single nucleotide variant Uncertain significance rs537643888 GRCh38 Chromosome 16, 31488761: 31488761
42 SLC5A2 NM_003041.3(SLC5A2): c.1269G> T (p.Leu423=) single nucleotide variant Uncertain significance rs537643888 GRCh37 Chromosome 16, 31500082: 31500082
43 SLC5A2 NM_003041.3(SLC5A2): c.1297A> G (p.Ile433Val) single nucleotide variant Uncertain significance rs150546732 GRCh38 Chromosome 16, 31488896: 31488896
44 SLC5A2 NM_003041.3(SLC5A2): c.1297A> G (p.Ile433Val) single nucleotide variant Uncertain significance rs150546732 GRCh37 Chromosome 16, 31500217: 31500217
45 SLC5A2 NM_003041.3(SLC5A2): c.1449+14G> A single nucleotide variant Uncertain significance rs777309894 GRCh38 Chromosome 16, 31489062: 31489062
46 SLC5A2 NM_003041.3(SLC5A2): c.1449+14G> A single nucleotide variant Uncertain significance rs777309894 GRCh37 Chromosome 16, 31500383: 31500383
47 SLC5A2 NM_003041.3(SLC5A2): c.1719G> T (p.Leu573=) single nucleotide variant Uncertain significance rs767926604 GRCh38 Chromosome 16, 31490157: 31490157
48 SLC5A2 NM_003041.3(SLC5A2): c.1719G> T (p.Leu573=) single nucleotide variant Uncertain significance rs767926604 GRCh37 Chromosome 16, 31501478: 31501478
49 SLC5A2 NM_003041.3(SLC5A2): c.1792+12T> C single nucleotide variant Uncertain significance rs886051963 GRCh37 Chromosome 16, 31501563: 31501563
50 SLC5A2 NM_003041.3(SLC5A2): c.1792+12T> C single nucleotide variant Uncertain significance rs886051963 GRCh38 Chromosome 16, 31490242: 31490242
Sources

Expression for Renal Glucosuria

About this section
Search GEO for disease gene expression data for Renal Glucosuria.
Sources

Pathways for Renal Glucosuria

About this section

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 66
Show member pathways
 12.68 ATP6V0A4 SLC2A1 SLC2A2 SLC5A1 SLC5A2
2
Glycosaminoglycan metabolism 66
Show member pathways
 12.31 SLC2A1 SLC2A2 SLC5A1 SLC5A2
3
Glucose / Energy Metabolism 4
12.03 SLC2A1 SLC5A1 SLC5A2
4
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.68 HNF1B SLC2A2
5
Hepatic ABC Transporters 64
Show member pathways
 11.64 HNF1B SLC2A2
6
Insulin resistance 37
Show member pathways
 11.57 SLC2A1 SLC2A2
7
Glucagon signaling pathway 37
11.54 SLC2A1 SLC2A2
8
Regulation of beta-cell development 66
Show member pathways
 11.51 HNF1B SLC2A2
9
Type II diabetes mellitus 37 1
Show member pathways
 11.48 HNF1B SLC2A2
10
NRF2 pathway 1
11.42 SLC2A1 SLC2A2 SLC5A1 SLC5A2
11
Bile secretion 37
11.33 SLC2A1 SLC5A1
12
Central carbon metabolism in cancer 37
11.27 SLC2A1 SLC2A2
13
HIF1Alpha Pathway 64
11.17 SLC2A1 SLC2A2
14
Carbohydrate digestion and absorption 37
11.05 SLC2A2 SLC5A1
15
Hexose transport 66
Show member pathways
 10.92 SLC2A1 SLC2A2 SLC5A1 SLC5A2
16
Cori Cycle 1
10.53 SLC2A1 SLC2A2
Sources

GO Terms for Renal Glucosuria

About this section

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 9.46 SLC16A12 SLC2A1 SLC2A2 SLC5A1
2 brush border GO:0005903 8.96 ATP6V0A4 SLC2A2
3 apical plasma membrane GO:0016324 8.8 ATP6V0A4 SLC2A1 SLC2A2

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.55 SLC16A12 SLC2A1 SLC2A2 SLC5A1 SLC5A2
2 regulation of insulin secretion GO:0050796 9.4 SLC2A1 SLC2A2
3 hexose transmembrane transport GO:0008645 9.37 SLC2A2 SLC5A2
4 dehydroascorbic acid transport GO:0070837 9.32 SLC2A1 SLC2A2
5 intestinal hexose absorption GO:0106001 9.26 SLC2A2 SLC5A1
6 carbohydrate transport GO:0008643 9.26 SLC2A1 SLC2A2 SLC5A1 SLC5A2
7 glucose transmembrane transport GO:1904659 8.92 SLC2A1 SLC2A2 SLC5A1 SLC5A2

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.5 SLC16A12 SLC5A1 SLC5A2
2 glucose transmembrane transporter activity GO:0005355 9.37 SLC2A1 SLC2A2
3 D-glucose transmembrane transporter activity GO:0055056 9.26 SLC2A1 SLC2A2
4 dehydroascorbic acid transmembrane transporter activity GO:0033300 9.16 SLC2A1 SLC2A2
5 glucose:sodium symporter activity GO:0005412 8.96 SLC5A1 SLC5A2
6 transmembrane transporter activity GO:0022857 8.92 SLC2A1 SLC2A2 SLC5A1 SLC5A2
Sources

Sources for Renal Glucosuria

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
Content
Loading form....