GGM
MCID: GLC022
MIFTS: 44

Glucose/galactose Malabsorption (GGM)

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

Aliases & Classifications for Glucose/galactose Malabsorption

MalaCards integrated aliases for Glucose/galactose Malabsorption:

Name: Glucose/galactose Malabsorption 57 13
Congenital Glucose-Galactose Malabsorption 43 36 29 6 70
Glucose-Galactose Malabsorption 73 20 43 58
Ggm 57 20 43 72
Monosaccharide Malabsorption 57 20 43
Complex Carbohydrate Intolerance 20 43
Carbohydrate Intolerance 43 70
Carbohydrate Intolerance of Glucose Galactose 20
Glucose Galactose Malabsorption Deficiency 20
Congenital Glucose/galactose Malabsorption 72
Congenital Glucose-Galactose Intolerance 43
Congenital Monosaccharide Malabsorption 70
Monosaccharide Malabsorption; Gm 57
Malabsorption, Glucose-Galactose 39
Sglt1 Deficiency 58
Gm 57

Characteristics:

Orphanet epidemiological data:

58
glucose-galactose malabsorption
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first days of life
diarrhea persists even with vigorous nursing
may be lethal if untreated
patients gradually develop tolerance to carbohydrates over time
dramatic improvement with proper treatment
high incidence among old order amish


HPO:

31
glucose/galactose malabsorption:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Inborn errors of metabolism


Summaries for Glucose/galactose Malabsorption

GARD : 20 Glucose-galactose malabsorption (GGM) is a genetic condition in which the sugars glucose and galactose cannot be properly absorbed by the body. Infants with GGM develop severe diarrhea resulting in life-threatening dehydration, acidosis, and weight loss in the first few weeks of life. GGM is caused by mutations in the SLC5A1 gene and is inherited in an autosomal recessive manner. This gene normally makes a special protein which helps the two sugars cross through the cell membranes of the epithelial cells lining the small intestine and special tubes in the kidneys. When the protein is missing, the cells cannot take in the glucose and galactose needed by the body. Diagnosis of glucose-galactose malabsorption (GGM) is made by the early onset of severe diarrhea, ruling out infections, and the improvement of symptoms when glucose and galactose are avoided. The diagnosis can be confirmed by genetic testing. Treatment involves a fructose based formula and a continued diet low in foods with glucose and galactose. Many children are able to tolerate more glucose and galactose as they near adulthood, although why this happens is not understood. People with GGM (even during infancy and childhood) are at an increased risk of developing kidney stones or more widespread deposits of calcium within the kidneys.

MalaCards based summary : Glucose/galactose Malabsorption, also known as congenital glucose-galactose malabsorption, is related to diarrhea 5, with tufting enteropathy, congenital and diarrhea. An important gene associated with Glucose/galactose Malabsorption is SLC5A1 (Solute Carrier Family 5 Member 1), and among its related pathways/superpathways is Carbohydrate digestion and absorption. The drugs Inositol and Lactulose have been mentioned in the context of this disorder. Affiliated tissues include small intestine, kidney and breast, and related phenotypes are failure to thrive and dehydration

MedlinePlus Genetics : 43 Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea. Beginning in infancy, severe diarrhea results in weight loss and dehydration that can be life-threatening. Small amounts of the simple sugar glucose in the urine (mild glucosuria) may occur in this disorder. Rarely, affected infants develop kidney stones due to deposits of calcium in the kidneys (nephrocalcinosis).The signs and symptoms of glucose-galactose malabsorption appear early in life when affected infants are fed breast milk or regular infant formulas. These foods contain glucose, galactose, and another sugar called lactose that gets broken down into these two sugars. When these sugar-containing foods are ingested by affected individuals, it leads to diarrhea and other health problems. If foods that contain glucose, galactose, and lactose are removed from the diet, the diarrhea stops.

OMIM® : 57 Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by Xin and Wang, 2011). (606824) (Updated 05-Apr-2021)

KEGG : 36 Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder that is due to mutations in the gene coding for the sodium-glucose cotransporter (SGLT1/SLC5A1). GGM is characterized by neonatal onset of watery and acidic diarrhea, which becomes fatal within a few weeks unless glucose and galactose containing nutrients are removed from the diet.

UniProtKB/Swiss-Prot : 72 Congenital glucose/galactose malabsorption: Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet.

Wikipedia : 73 Glucose-galactose malabsorption is a rare condition in which the cells lining the intestine cannot take... more...

Related Diseases for Glucose/galactose Malabsorption

Diseases related to Glucose/galactose Malabsorption via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 diarrhea 5, with tufting enteropathy, congenital 11.3
2 diarrhea 10.7
3 autosomal recessive disease 10.6
4 gestational diabetes 10.5
5 nephrocalcinosis 10.4
6 nephrolithiasis 10.4
7 renal glucosuria 10.3
8 chylomicron retention disease 10.3
9 osmotic diarrhea 10.3
10 renal tubular acidosis 10.2
11 hypoglycemia 10.2
12 lactose intolerance 10.1
13 hyperinsulinism 10.1
14 liver cirrhosis 10.1
15 acute diarrhea 10.1
16 hyperglycemia 10.1
17 diabetes insipidus, nephrogenic, autosomal 10.1
18 hypoascorbemia 10.1
19 metabolic acidosis 10.1
20 congenital diarrhea 10.1
21 glucose intolerance 10.1
22 rickets 10.1
23 gastroenteritis 10.1
24 diabetes insipidus 10.1
25 acrodermatitis enteropathica, zinc-deficiency type 10.0
26 acrodermatitis 10.0
27 enteropathica 10.0
28 hypertriglyceridemia, familial 10.0
29 gonadal dysgenesis 10.0
30 acromegaly 10.0
31 bilirubin metabolic disorder 10.0
32 uremia 10.0
33 fetal macrosomia 10.0
34 overgrowth syndrome 10.0
35 listeriosis 9.9
36 alcohol dependence 9.8
37 amyotrophic lateral sclerosis 1 9.8
38 antipyrine metabolism 9.8
39 type 2 diabetes mellitus 9.8
40 nephrolithiasis, calcium oxalate 9.8
41 pheochromocytoma 9.8
42 fructose intolerance, hereditary 9.8
43 pyruvate kinase deficiency of red cells 9.8
44 werner syndrome 9.8
45 microvascular complications of diabetes 5 9.8
46 adrenal gland pheochromocytoma 9.8
47 withdrawal disorder 9.8
48 short bowel syndrome 9.8
49 tropical sprue 9.8
50 hypoparathyroidism 9.8

Graphical network of the top 20 diseases related to Glucose/galactose Malabsorption:



Diseases related to Glucose/galactose Malabsorption

Symptoms & Phenotypes for Glucose/galactose Malabsorption

Human phenotypes related to Glucose/galactose Malabsorption:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
5 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
6 malnutrition 58 31 frequent (33%) Frequent (79-30%) HP:0004395
7 hypernatremia 58 31 frequent (33%) Frequent (79-30%) HP:0003228
8 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
9 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
10 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
11 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
12 hyperactive bowel sounds 58 31 occasional (7.5%) Occasional (29-5%) HP:0030143
13 fever 58 31 very rare (1%) Very rare (<4-1%) HP:0001945
14 hematuria 58 31 very rare (1%) Very rare (<4-1%) HP:0000790
15 malabsorption 31 HP:0002024
16 chronic diarrhea 31 HP:0002028
17 metabolic acidosis 31 HP:0001942
18 glycosuria 31 HP:0003076
19 abnormal oral glucose tolerance 31 HP:0004924
20 hypertonic dehydration 31 HP:0001986

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen:
distended abdomen

Laboratory Abnormalities:
glucosuria, mild, intermittent
abnormal glucose oral tolerance test
glucose breath hydrogen test shows malabsorption of glucose and galactose

Metabolic Features:
metabolic acidosis
hyperosmolar dehydration

Abdomen Gastrointestinal:
diarrhea, severe, chronic
increased bowel sounds

Clinical features from OMIM®:

606824 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glucose/galactose Malabsorption

Drugs for Glucose/galactose Malabsorption (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Inositol Approved, Investigational, Withdrawn 87-89-8
2
Lactulose Approved 4618-18-2 11333
3
Caffeine Approved 58-08-2 2519
4
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
5 Vitamin B9
6 Trace Elements
7 insulin
8 Nutrients
9 Micronutrients
10 Vitamin B Complex
11 Vitamins
12 Folate
13 Insulin, Globin Zinc
14 Gastrointestinal Agents
15 Pharmaceutical Solutions
16 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Myo-inositol Administration on Insulin Sensitivity in Gestational Diabetes Patients by Continuous Glucose Monitoring System (CGMS) Unknown status NCT00734448
2 Prevalence of Carbohydrate Intolerance in Lean and Obese Children Unknown status NCT00000112
3 Effects of Diet Type Selection Based on Response to a Carbohydrate Intolerance Questionnaire and Genetic Screening on Success to a Weight Loss and Exercise Program Completed NCT03116711
4 Effect of Genetic Variation in Starch-digesting Enzymes on Digestibility and Glycemic Index of Rice Prepared in Different Ways Completed NCT03667963
5 Validation of Carbohydrate Intolerance Questionnaire Completed NCT03138902
6 Measuring the Glycemic Index of Pulse Based Breads Completed NCT03015506
7 Safety of Preoperative Carbohydrate Loading in Diabetic Patients Undergoing General Anesthesia Recruiting NCT04456166
8 Prevalence of Carbohydrate Intolerance in Lean and Overweight/Obese Children Recruiting NCT01967849
9 Validation and Field-applicability of a 13C-Sucrose Breath Test to Assess Carbohydrate Uptake and Utilization in Environmental Enteropathy Among Children in Resource Poor Settings: A Multi-site Prospective Study Not yet recruiting NCT04109352

Search NIH Clinical Center for Glucose/galactose Malabsorption

Genetic Tests for Glucose/galactose Malabsorption

Genetic tests related to Glucose/galactose Malabsorption:

# Genetic test Affiliating Genes
1 Congenital Glucose-Galactose Malabsorption 29 SLC5A1

Anatomical Context for Glucose/galactose Malabsorption

MalaCards organs/tissues related to Glucose/galactose Malabsorption:

40
Small Intestine, Kidney, Breast, Pancreatic Islet

Publications for Glucose/galactose Malabsorption

Articles related to Glucose/galactose Malabsorption:

(show top 50) (show all 141)
# Title Authors PMID Year
1
Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. 61 6 57
20486940 2011
2
Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption. 57 6 61
8844006 1996
3
Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. 61 6 57
2008213 1991
4
SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption. 61 6
28753187 2018
5
Molecular basis for glucose-galactose malabsorption. 6 61
12139397 2002
6
Congenital glucose-galactose malabsorption in Arab children. 61 57
8985845 1996
7
Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. 61 57
8563765 1996
8
Assignment of the human Na+/glucose cotransporter gene SGLT1 to chromosome 22q13.1. 61 57
8244393 1993
9
Familial glucose-galactose malabsorption: remission of glucose intolerance. 61 57
4717580 1973
10
Glucose-galactose malabsorption in an Oriental-Iraqui Jewish family. 61 57
5581590 1971
11
Renal and intestinal hexose transport in familial glucose-galactose malabsorption. 57 61
5415683 1970
12
Glucose-galactose malabsorption. Studies on renal glucosuria. 61 57
5438804 1970
13
Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia. 20 61
24630509 2014
14
Membrane topology motifs in the SGLT cotransporter family. 6
9309206 1997
15
AN INBORN DEFECT OF INTESTINAL ABSORPTION OF CERTAIN MONOSACCHARIDES. 57
14259267 1965
16
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders. 61
33567694 2021
17
Prokaryotic Solute/Sodium Symporters: Versatile Functions and Mechanisms of a Transporter Family. 61
33668649 2021
18
Enteroendocrine Dysfunction in Two Saudi Sisters. 61
33790717 2021
19
Long-Term Dietary Changes in Subjects with Glucose Galactose Malabsorption Secondary to Biallelic Mutations of SLC5A1. 61
33433815 2021
20
Literature review on congenital glucose-galactose malabsorption from 2001 to 2019. 61
32946683 2020
21
Glucose transporters in the small intestine in health and disease. 61
32829466 2020
22
Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease. 61
31286439 2019
23
Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant. 61
31415402 2019
24
A Rare Cause of Intractable Diarrhea of Infancy. 61
31142420 2019
25
Congenital glucose-galactose malabsorption: A rare and severe cause of infant diarrhea. 61
30409526 2019
26
What does sodium-glucose co-transporter 1 inhibition add: Prospects for dual inhibition. 61
31081587 2019
27
Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation. 61
30656007 2019
28
Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk. 61
30286918 2018
29
Development of SGLT1 and SGLT2 inhibitors. 61
30132033 2018
30
Altered pancreatic islet morphology and function in SGLT1 knockout mice on a glucose-deficient, fat-enriched diet. 61
29859847 2018
31
Novel and Unexpected Functions of SGLTs. 61
29021363 2017
32
Congenital Glucose-Galactose Malabsorption: A Case Report. 61
28283348 2017
33
Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3
. 61
28152538 2017
34
Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene. 61
27783308 2017
35
Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities. 61
28712180 2017
36
Congenital glucose-galactose malabsorption diagnosed from macrohematuria in an infant. 61
28008736 2016
37
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe. 61
26215149 2015
38
Congenital diseases of the gastrointestinal tract. 61
24940857 2014
39
Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene. 61
24048166 2014
40
Glucose transport into everted sacs of the small intestine of mice. 61
24292921 2013
41
Five Arab children with glucose-galactose malabsorption. 61
23925285 2013
42
Glucose transport families SLC5 and SLC50. 61
23506865 2013
43
Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene. 61
22843301 2013
44
[Neonatal diarrhea due to congenital glucose-galactose malabsorption: report of seven cases]. 61
23107089 2012
45
Structural insights into genetic variants of Na(+)/glucose cotransporter SGLT1 causing glucose-galactose malabsorption: vSGLT as a model structure. 61
22383112 2012
46
Na(+)-D-glucose cotransporter SGLT1 is pivotal for intestinal glucose absorption and glucose-dependent incretin secretion. 61
22124465 2012
47
Selected disorders of malabsorption. 61
21872088 2011
48
Biology of human sodium glucose transporters. 61
21527736 2011
49
The Na(+)/glucose cotransporters: from genes to therapy. 61
21049241 2010
50
Exploring newer target sodium glucose transporter 2 for the treatment of diabetes mellitus. 61
21034414 2010

Variations for Glucose/galactose Malabsorption

ClinVar genetic disease variations for Glucose/galactose Malabsorption:

6 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC5A1 NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn) SNV Pathogenic 12907 rs121912668 GRCh37: 22:32439350-32439350
GRCh38: 22:32043363-32043363
2 SLC5A1 NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly) SNV Pathogenic 12908 rs121912669 GRCh37: 22:32439351-32439351
GRCh38: 22:32043364-32043364
3 SLC5A1 NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) Deletion Pathogenic 803683 rs1455367784 GRCh37: 22:32500802-32500802
GRCh38: 22:32104815-32104815
4 SLC5A1 NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) SNV Pathogenic 803681 rs779502629 GRCh37: 22:32480560-32480560
GRCh38: 22:32084573-32084573
5 SLC5A1 NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter) SNV Pathogenic 973540 GRCh37: 22:32445981-32445981
GRCh38: 22:32049994-32049994
6 SLC5A1 NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) SNV Pathogenic 992967 GRCh37: 22:32480526-32480526
GRCh38: 22:32084539-32084539
7 SLC5A1 NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) SNV Likely pathogenic 803682 rs774651252 GRCh37: 22:32481008-32481008
GRCh38: 22:32085021-32085021
8 SLC5A1 NM_000343.4(SLC5A1):c.*1408G>A SNV Uncertain significance 899809 GRCh37: 22:32507608-32507608
GRCh38: 22:32111621-32111621
9 SLC5A1 NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr) SNV Uncertain significance 899541 GRCh37: 22:32439389-32439389
GRCh38: 22:32043402-32043402
10 SLC5A1 NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu) SNV Uncertain significance 899542 GRCh37: 22:32445952-32445952
GRCh38: 22:32049965-32049965
11 SLC5A1 NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=) SNV Uncertain significance 899619 GRCh37: 22:32500823-32500823
GRCh38: 22:32104836-32104836
12 SLC5A1 NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala) SNV Uncertain significance 899620 GRCh37: 22:32500837-32500837
GRCh38: 22:32104850-32104850
13 SLC5A1 NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr) SNV Uncertain significance 899621 GRCh37: 22:32505988-32505988
GRCh38: 22:32110001-32110001
14 SLC5A1 NM_000343.4(SLC5A1):c.*1522T>G SNV Uncertain significance 900975 GRCh37: 22:32507722-32507722
GRCh38: 22:32111735-32111735
15 SLC5A1 NM_000343.4(SLC5A1):c.*1595A>C SNV Uncertain significance 900976 GRCh37: 22:32507795-32507795
GRCh38: 22:32111808-32111808
16 SLC5A1 NM_000343.4(SLC5A1):c.*1842C>T SNV Uncertain significance 901536 GRCh37: 22:32508042-32508042
GRCh38: 22:32112055-32112055
17 SLC5A1 NM_000343.4(SLC5A1):c.*1995T>C SNV Uncertain significance 901537 GRCh37: 22:32508195-32508195
GRCh38: 22:32112208-32112208
18 SLC5A1 NM_000343.4(SLC5A1):c.*2201G>A SNV Uncertain significance 901538 GRCh37: 22:32508401-32508401
GRCh38: 22:32112414-32112414
19 SLC5A1 NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp) SNV Uncertain significance 900678 GRCh37: 22:32480939-32480939
GRCh38: 22:32084952-32084952
20 SLC5A1 NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=) SNV Uncertain significance 902359 GRCh37: 22:32482313-32482313
GRCh38: 22:32086326-32086326
21 SLC5A1 NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=) SNV Uncertain significance 341258 rs368853644 GRCh37: 22:32500832-32500832
GRCh38: 22:32104845-32104845
22 SLC5A1 NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg) SNV Uncertain significance 341255 rs886057403 GRCh37: 22:32498009-32498009
GRCh38: 22:32102022-32102022
23 SLC5A1 NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) SNV Uncertain significance 341261 rs200228396 GRCh37: 22:32506014-32506014
GRCh38: 22:32110027-32110027
24 SLC5A1 NM_000343.4(SLC5A1):c.*1312A>G SNV Uncertain significance 341284 rs768251081 GRCh37: 22:32507512-32507512
GRCh38: 22:32111525-32111525
25 SLC5A1 NM_000343.4(SLC5A1):c.*1053G>A SNV Uncertain significance 341281 rs376345201 GRCh37: 22:32507253-32507253
GRCh38: 22:32111266-32111266
26 SLC5A1 NM_000343.4(SLC5A1):c.624G>A (p.Thr208=) SNV Uncertain significance 341241 rs144581584 GRCh37: 22:32479101-32479101
GRCh38: 22:32083114-32083114
27 SLC5A1 NM_000343.4(SLC5A1):c.*649G>A SNV Uncertain significance 341273 rs544819758 GRCh37: 22:32506849-32506849
GRCh38: 22:32110862-32110862
28 SLC5A1 NM_000343.4(SLC5A1):c.-11dup Duplication Uncertain significance 341233 rs541991193 GRCh37: 22:32439256-32439257
GRCh38: 22:32043269-32043270
29 SLC5A1 NM_000343.4(SLC5A1):c.*1744G>A SNV Uncertain significance 341290 rs376602365 GRCh37: 22:32507944-32507944
GRCh38: 22:32111957-32111957
30 SLC5A1 NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) Duplication Uncertain significance 437468 rs775681808 GRCh37: 22:32439274-32439275
GRCh38: 22:32043287-32043288
31 SLC5A1 NM_000343.4(SLC5A1):c.*707G>A SNV Uncertain significance 341276 rs886057409 GRCh37: 22:32506907-32506907
GRCh38: 22:32110920-32110920
32 SLC5A1 NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr) SNV Uncertain significance 341259 rs201862174 GRCh37: 22:32500870-32500870
GRCh38: 22:32104883-32104883
33 SLC5A1 NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) SNV Uncertain significance 341256 rs33975915 GRCh37: 22:32498115-32498115
GRCh38: 22:32102128-32102128
34 SLC5A1 NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile) SNV Uncertain significance 341242 rs777779839 GRCh37: 22:32480531-32480531
GRCh38: 22:32084544-32084544
35 SLC5A1 NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val) SNV Uncertain significance 341245 rs201216997 GRCh37: 22:32481013-32481013
GRCh38: 22:32085026-32085026
36 SLC5A1 NM_000343.4(SLC5A1):c.*1346A>G SNV Uncertain significance 341285 rs886057412 GRCh37: 22:32507546-32507546
GRCh38: 22:32111559-32111559
37 SLC5A1 NM_000343.4(SLC5A1):c.*155C>T SNV Uncertain significance 341268 rs886057405 GRCh37: 22:32506355-32506355
GRCh38: 22:32110368-32110368
38 SLC5A1 NM_000343.4(SLC5A1):c.*1755T>G SNV Uncertain significance 341291 rs886057413 GRCh37: 22:32507955-32507955
GRCh38: 22:32111968-32111968
39 SLC5A1 NM_000343.4(SLC5A1):c.*703C>T SNV Uncertain significance 341274 rs576036983 GRCh37: 22:32506903-32506903
GRCh38: 22:32110916-32110916
40 SLC5A1 NM_000343.4(SLC5A1):c.*2132C>A SNV Uncertain significance 341294 rs541518106 GRCh37: 22:32508332-32508332
GRCh38: 22:32112345-32112345
41 SLC5A1 NM_000343.4(SLC5A1):c.*715del Deletion Uncertain significance 341277 rs777276040 GRCh37: 22:32506913-32506913
GRCh38: 22:32110926-32110926
42 SLC5A1 NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg) SNV Uncertain significance 341254 rs886057402 GRCh37: 22:32495279-32495279
GRCh38: 22:32099292-32099292
43 SLC5A1 NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) SNV Uncertain significance 341243 rs200849778 GRCh37: 22:32480574-32480574
GRCh38: 22:32084587-32084587
44 SLC5A1 NM_000343.4(SLC5A1):c.1772-5C>A SNV Uncertain significance 341260 rs886057404 GRCh37: 22:32505972-32505972
GRCh38: 22:32109985-32109985
45 SLC5A1 NM_000343.4(SLC5A1):c.*1251G>T SNV Uncertain significance 341283 rs886057411 GRCh37: 22:32507451-32507451
GRCh38: 22:32111464-32111464
46 SLC5A1 NM_000343.4(SLC5A1):c.549C>T (p.Leu183=) SNV Uncertain significance 341240 rs376255565 GRCh37: 22:32477924-32477924
GRCh38: 22:32081937-32081937
47 SLC5A1 NM_000343.4(SLC5A1):c.208-13T>A SNV Uncertain significance 341237 rs200261297 GRCh37: 22:32462909-32462909
GRCh38: 22:32066922-32066922
48 SLC5A1 NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr) SNV Uncertain significance 341246 rs774741107 GRCh37: 22:32482213-32482213
GRCh38: 22:32086226-32086226
49 SLC5A1 NM_000343.4(SLC5A1):c.*1559C>T SNV Uncertain significance 341289 rs372572143 GRCh37: 22:32507759-32507759
GRCh38: 22:32111772-32111772
50 SLC5A1 NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp) SNV Uncertain significance 341248 rs200834101 GRCh37: 22:32482311-32482311
GRCh38: 22:32086324-32086324

UniProtKB/Swiss-Prot genetic disease variations for Glucose/galactose Malabsorption:

72
# Symbol AA change Variation ID SNP ID
1 SLC5A1 p.Asp28Asn VAR_007168 rs121912668
2 SLC5A1 p.Asp28Gly VAR_013630 rs121912669
3 SLC5A1 p.Arg135Trp VAR_021502
4 SLC5A1 p.Gly318Arg VAR_021503 rs371505974
5 SLC5A1 p.Ala468Val VAR_021504 rs200406921

Expression for Glucose/galactose Malabsorption

Search GEO for disease gene expression data for Glucose/galactose Malabsorption.

Pathways for Glucose/galactose Malabsorption

Pathways related to Glucose/galactose Malabsorption according to KEGG:

36
# Name Kegg Source Accession
1 Carbohydrate digestion and absorption hsa04973

GO Terms for Glucose/galactose Malabsorption

Sources for Glucose/galactose Malabsorption

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....