MCID: RNL024
MIFTS: 50

Renal Glucosuria

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

Aliases & Classifications for Renal Glucosuria

MalaCards integrated aliases for Renal Glucosuria:

Name: Renal Glucosuria 53 49 71 13
Renal Glycosuria 37 12 72 49 14
Familial Renal Glucosuria 55 36 28 69
Glycosuria, Renal 53 41 69
Glys1 53 71
Glys 53 71
Glucosuria, Renal 71
Sglt2 Deficiency 55
Renal Diabetes 12
Diabetes Renal 51
Gly 72

Characteristics:

Orphanet epidemiological data:

55
familial renal glucosuria
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

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:



External Ids:

OMIM 53 233100
Disease Ontology 12 DOID:9432
ICD10 32 E74.8
ICD9CM 34 271.4
MeSH 41 D006030
Orphanet 55 ORPHA69076
UMLS via Orphanet 70 C0017980 C3245525
ICD10 via Orphanet 33 E74.8
MedGen 39 C0017980
KEGG 36 H01126

Summaries for Renal Glucosuria

NIH Rare Diseases : 49 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 hyperglycemia and cataract 47, 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 : 53 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 : 71 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 : 72 Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar... 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 116)
# Related Disease Score Top Affiliating Genes
1 hyperglycemia 28.4 SLC2A1 SLC2A2 SLC5A2
2 cataract 47 11.7
3 renal cysts and diabetes syndrome 10.9
4 diabetes insipidus, nephrogenic, autosomal 10.8
5 diabetes insipidus, nephrogenic, x-linked 10.8
6 angel-shaped phalangoepiphyseal dysplasia 10.5
7 neuroblastoma 10.4
8 diabetes mellitus 10.2
9 cataract 32, multiple types 10.1
10 pyelonephritis 10.0
11 aminoaciduria 10.0
12 thalassemia 10.0
13 brittle bone disorder 10.0
14 blood group, i system 9.9
15 alpha-thalassemia 9.9
16 endotheliitis 9.9
17 glucose/galactose malabsorption 9.9
18 cataract 9.9
19 hypercholesterolemia, autosomal dominant, 3 9.8
20 beta-thalassemia 9.8
21 von willebrand's disease 9.8
22 neuronitis 9.8
23 hypertension, essential 9.8
24 osteoporosis 9.8
25 aging 9.8
26 osteomalacia 9.8
27 fanconi syndrome 9.8
28 interstitial nephritis 9.8
29 nephrotic syndrome 9.8
30 acute pyelonephritis 9.8
31 alzheimer disease 9.7
32 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.7
33 acute insulin response 9.7
34 hepatitis 9.7
35 thrombosis 9.7
36 polyneuropathy 9.7
37 melanoma 9.7
38 hemophilia 9.7
39 primary hypomagnesemia 9.7 SLC2A2 SLC5A1
40 atrophy of prostate 9.7 SLC2A1 SLC2A2
41 glucose metabolism disease 9.6 SLC2A2 SLC5A2
42 neonatal diabetes mellitus 9.6 HNF1B SLC2A2
43 achondroplasia 9.6
44 amyotrophic lateral sclerosis 1 9.6
45 arteries, anomalies of 9.6
46 blood group--diego system 9.6
47 colorectal cancer 9.6
48 echo virus 11 sensitivity 9.6
49 fibrosis of extraocular muscles, congenital, 1 9.6
50 hypercholesterolemia, familial 9.6

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 via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
extracellular volume depletion (rare, in severe cases only)

Metabolic Features:
polydipsia (in some)

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


Clinical features from OMIM:

233100

Human phenotypes related to Renal Glucosuria:

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

Drugs & Therapeutics for Renal Glucosuria

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


# 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

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

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 28 SLC5A2

Anatomical Context for Renal Glucosuria

MalaCards organs/tissues related to Renal Glucosuria:

38
Kidney
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 Potential therapeutic candidate, affected by disease

Publications for Renal Glucosuria

Articles related to Renal Glucosuria:

(show top 50) (show all 95)
# 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
Clinical and Genetic Features of Patients With Type 2 Diabetes and Renal Glycosuria. ( 28324025 )
2017
4
Renal glucosuria is not associated with atherosclerotic cardiovascular disease outcome in a general Japanese community. ( 28242048 )
2017
5
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. ( 27666404 )
2016
6
Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time. ( 26735923 )
2016
7
Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues. ( 27446256 )
2016
8
Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria. ( 25896487 )
2015
9
Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2. ( 25339128 )
2015
10
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
11
Familial renal glycosuria and modifications of glucose renal excretion. ( 25554066 )
2014
12
Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene. ( 24255686 )
2013
13
Hypouricaemia and hyperuricosuria in familial renal glucosuria. ( 26064518 )
2013
14
Pregnancy-associated polyuria in familial renal glycosuria. ( 23871407 )
2013
15
Reversible renal glycosuria in acute interstitial nephritis. ( 22929613 )
2012
16
Familial renal glucosuria: a clinicogenetic study of 23 additional cases. ( 22314875 )
2012
17
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. ( 21165652 )
2011
18
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. ( 19965550 )
2010
19
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. ( 18304496 )
2008
20
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
21
Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. ( 16518345 )
2006
22
Renal glycosuria: occurrence in two siblings and a review of the literature. ( 16291355 )
2005
23
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. ( 15610225 )
2005
24
Gene Symbol: SLC55A2. Disease: familial renal glucosuria. ( 15300967 )
2004
25
Long-term outcome of renal glucosuria type 0: the original patient and his natural history. ( 15299100 )
2004
26
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. ( 14614622 )
2004
27
A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria. ( 15496564 )
2004
28
Renal glucosuria due to SGLT2 mutations. ( 15110322 )
2004
29
Molecular analysis of the SGLT2 gene in patients with renal glucosuria. ( 14569097 )
2003
30
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). ( 12436245 )
2002
31
Transient renal glycosuria in a patient with acute pyelonephritis. ( 11446678 )
2001
32
Identification of a novel form of renal glucosuria with overexcretion of arginine, carnosine, and taurine. ( 11325687 )
2001
33
Renal glycosuria treated as diabetes mellitus: case report. ( 9557451 )
1997
34
Abnormal blood glucose and insulin response during oral glucose tolerance test in familial renal glycosuria. ( 9399067 )
1997
35
Renal glycosuria in two siblings. ( 1601482 )
1992
36
Hypercalciuria in children with renal glycosuria: evidence of dual renal tubular reabsorptive defects. ( 1432419 )
1992
37
Renal glycosuria in pyelonephritis. ( 2928025 )
1989
38
Renal diabetes (primary renal glycosuria): a short overview. ( 3327302 )
1987
39
Renal glycosuria (a family study). ( 6491338 )
1984
40
Renal glycosuria in renal homograft recipients. ( 6387265 )
1984
41
Close genetic linkage between HLA and renal glycosuria. ( 6524599 )
1984
42
Immunological characterization of renal glycosuria patients. ( 6547376 )
1984
43
Renal glycosuria in patients with the nephrotic syndrome. ( 6482310 )
1984
44
Is renal glycosuria a benign condition? ( 6657688 )
1983
45
Renal glycosuria and azotemia after enalapril maleate (MK-421) ( 6124829 )
1982
46
Familial renal glycosuria. ( 634421 )
1978
47
Renal glycosuria (a case report with a family study). ( 730745 )
1978
48
Renal glucosuria and aminoaciduria. ( 899885 )
1977
49
Renal glycosuria due to gentamicin in rabbits. ( 972262 )
1976
50
Micropuncture studies of glucose transport in the dog: mechanism of renal glycosuria. ( 961899 )
1976

Variations for Renal Glucosuria

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

71
# Symbol AA change Variation ID SNP ID
1 SLC5A2 p.Asn654Ser VAR_019310 rs61742739

ClinVar genetic disease variations for Renal Glucosuria:

6
# 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
8 SLC5A2 NM_003041.3(SLC5A2): c.1451G> A (p.Gly484Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 31489124: 31489124

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)
# 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 11.98 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:

# Name GO ID Score Top Affiliating Genes
1 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:

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.78 SLC2A1 SLC2A2 SLC5A1 SLC5A2
2 transmembrane transport GO:0055085 9.65 SLC16A12 SLC2A1 SLC2A2 SLC5A1 SLC5A2
3 sodium ion transport GO:0006814 9.46 SLC5A1 SLC5A2
4 regulation of insulin secretion GO:0050796 9.43 SLC2A1 SLC2A2
5 hexose transport GO:0008645 9.4 SLC2A2 SLC5A2
6 dehydroascorbic acid transport GO:0070837 9.37 SLC2A1 SLC2A2
7 glucose transport GO:0015758 9.33 SLC2A1 SLC2A2 SLC5A1
8 intestinal hexose absorption GO:0106001 9.32 SLC2A2 SLC5A1
9 carbohydrate transport GO:0008643 9.26 SLC2A1 SLC2A2 SLC5A1 SLC5A2
10 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 transporter activity GO:0005215 9.4 SLC2A1 SLC5A1
2 transmembrane transporter activity GO:0022857 9.37 SLC2A1 SLC2A2
3 symporter activity GO:0015293 9.33 SLC16A12 SLC5A1 SLC5A2
4 glucose transmembrane transporter activity GO:0005355 9.32 SLC2A1 SLC2A2
5 D-glucose transmembrane transporter activity GO:0055056 9.26 SLC2A1 SLC2A2
6 glucose:sodium symporter activity GO:0005412 8.96 SLC5A1 SLC5A2
7 dehydroascorbic acid transmembrane 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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