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MCID: LCT002
MIFTS: 47

Lactose Intolerance

Categories: Metabolic diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Lactose Intolerance

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MalaCards integrated aliases for Lactose Intolerance:

Name: Lactose Intolerance 12 25 55 6 43 44 15 63 40 73
Lm - Lactose Malabsorption 12
Dairy Product Intolerance 25
Milk Sugar Intolerance 25
Lactose Malabsorption 25
Hypolactasia 25
Alactasia 25

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:10604
ICD10 33 E73 E73.9
MeSH 44 D007787
NCIt 50 C3154
UMLS 73 C0022951
Sources

Summaries for Lactose Intolerance

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PubMed Health : 63 About lactose intolerance: Stomach ache, bloating, "gas" and diarrhea are all typical digestive symptoms that some people have after eating or drinking dairy products. People who have difficulty digesting dairy products may only tolerate small amounts of lactose (a sugar found in milk and other dairy products). This is called lactose intolerance.But some people who are sensitive to milk might actually have a different problem. It is important to get the diagnosis right before deciding to make major changes to your diet, especially in children, teenagers and people who need more calcium.Lactose intolerance is not an allergy. This is an important difference. People who have a true milk allergy can react to even a tiny amount of dairy foods or milk. But people who are lactose intolerant can sometimes consume quite a lot of these products without having any major problems.

MalaCards based summary : Lactose Intolerance, also known as lm - lactose malabsorption, is related to lactose intolerance, adult type and osmotic diarrhea, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Lactose Intolerance is LCT (Lactase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Caseins and Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, small intestine and kidney.

MedlinePlus : 43 Lactose intolerance means that you cannot digest foods with lactose in them. Lactose is the sugar found in milk and foods made with milk. After eating foods with lactose in them, you may feel sick to your stomach. You may also have Gas Diarrhea Swelling in your stomach Your doctor may do a blood, breath or stool test to find out if your problems are due to lactose intolerance. Lactose intolerance is not serious. Eating less food with lactose, or using pills or drops to help you digest lactose usually helps. You may need to take a calcium supplement if you don't get enough of it from your diet, since milk and foods made with milk are the most common source of calcium for most people. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Genetics Home Reference : 25 Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine.

Wikipedia : 76 Lactose intolerance is a condition in which people have symptoms due to the decreased ability to digest... more...

Sources

Related Diseases for Lactose Intolerance

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Diseases in the Lactose Intolerance family:

Lactose Intolerance, Adult Type

Diseases related to Lactose Intolerance via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 lactose intolerance, adult type 33.6 LCT MCM6
2 osmotic diarrhea 30.7 LCT SLC5A1
3 diarrhea 30.7 LCT SI SLC5A1
4 congenital sucrase-isomaltase deficiency with starch and lactose intolerance 12.3
5 lactase deficiency, congenital 11.4
6 congenital short bowel syndrome 11.0
7 short bowel syndrome 11.0
8 streptococcal group a invasive disease 11.0
9 irritable bowel syndrome 10.4
10 aging 10.3
11 osteoporosis 10.1
12 celiac disease 1 10.1
13 ulcerative colitis 10.1
14 colitis 10.1
15 milk allergy 10.1
16 duodenitis 10.1
17 colorectal cancer 10.0
18 ovarian cancer 10.0
19 acrodermatitis enteropathica, zinc-deficiency type 10.0
20 cataract 10.0
21 inflammatory bowel disease 10.0
22 protein-energy malnutrition 10.0
23 gastroenteritis 10.0
24 acrodermatitis 10.0
25 enteropathica 10.0
26 arteries, anomalies of 9.8
27 prostate cancer 9.8
28 urticaria, aquagenic 9.8
29 enterocolitis 9.8
30 anxiety 9.8
31 beta-thalassemia 9.8
32 bone fracture 9.8
33 burns 9.8
34 coronary artery anomaly 9.8
35 crohn's disease 9.8
36 thalassemia 9.8
37 immunoglobulin alpha deficiency 9.8
38 mucositis 9.8
39 steatorrhea 9.8
40 giardiasis 9.8
41 dysentery 9.8
42 hyperparathyroidism 9.8
43 prostatitis 9.8
44 urticaria 9.8
45 dyspepsia 9.8
46 dermatitis 9.8
47 thyroiditis 9.8
48 gastrointestinal system disease 9.8
49 measles 9.8
50 carbohydrate metabolic disorder 9.6 ALDOB LCT

Graphical network of the top 20 diseases related to Lactose Intolerance:



Diseases related to Lactose Intolerance
Sources

Symptoms & Phenotypes for Lactose Intolerance

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UMLS symptoms related to Lactose Intolerance:


abdominal pain, constipation, diarrhea, dyspepsia, heartburn, icterus, nausea and vomiting, gastrointestinal gas
Sources

Drugs & Therapeutics for Lactose Intolerance

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Drugs for Lactose Intolerance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Caseins Phase 4,Phase 2
2 Chelating Agents Phase 4
3 Bifidobacterium Nutraceutical Phase 4,Not Applicable
4 Linoleate Nutraceutical Phase 1, Phase 2
5
Sorbitol Approved Not Applicable 50-70-4 5780
6
Menthol Approved Not Applicable 2216-51-5 16666
7
Chromium Approved 7440-47-3 27668
8
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 11103-57-4, 68-26-8 445354
9 Retinol palmitate Not Applicable
10 Calcium, Dietary ,Not Applicable
11 Anti-Infective Agents Not Applicable
12 Antimalarials Not Applicable
13 Antiparasitic Agents Not Applicable
14 Antiprotozoal Agents Not Applicable
15 Renal Agents Not Applicable
16 Sulfalene Not Applicable
17 insulin Not Applicable
18 Insulin, Globin Zinc Not Applicable
19
Bilirubin Not Applicable 635-65-4 5280352
20 Bone Density Conservation Agents Not Applicable
21 retinol Nutraceutical Not Applicable
22 Cola Nutraceutical ,Not Applicable
23 Soy Bean Nutraceutical Not Applicable
24 alanine Nutraceutical Not Applicable

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Evaluation of LacTEST for the Diagnosis of Hypolactasia in Adults and Elderly Patients Presenting With Clinical Symptoms of Lactose Intolerance Completed NCT02636413 Phase 4 gaxilose
2 Incidence of Lactose Intolerance Among Self-reported Lactose Intolerant People Completed NCT02878876 Phase 4
3 Effects Comparison of A1 and A2 Milk on Gastrointestinal Physiology, Symptoms and Cognitive Behavior Completed NCT02406469 Phase 4
4 NEOBIFI: Clinical Trial for the Prevention and/or Reduction of the Incidence of Colics in Infants Completed NCT03219931 Phase 4 Bifidobacterium breve BR03 and Bifidobacterium breve B632;Placebos
5 Effects of Mesalamine and Amitriptyline on Irritable Bowel Syndrome Withdrawn NCT02190526 Phase 4 Mesalazine(asacol 800 mg);Amitriptyline;placebo like asacol;placebo like amitriptyline
6 Efficacy, Safety, and Tolerability Study of RP-G28 in Subjects With Lactose Intolerance Completed NCT02673749 Phase 2, Phase 3 RP-G28
7 A Non-inferiority, Multicenter and Randomized, Multiple-Dose Study About a Treatment to Hypolactasia Completed NCT01145586 Phase 3 Lactase Oral Tablets
8 A Non-inferiority, Multicenter and Randomized, Single-Dose Study About a Treatment to Hypolactasia (LAILAI) Completed NCT01145339 Phase 3 Lactase
9 Evaluation of the Efficacy of a New Infant Formula in Subjects With Cow's Milk Allergy Unknown status NCT02149134 Phase 2
10 Effectiveness, Safety and Tolerability Study of RP-G28 for Symptoms Associated With Lactose Intolerance Completed NCT01113619 Phase 2 RP-G28 or placebo;RP-G28 or placebo
11 Cheese Intake,CLA and Hypercholesterolemia Completed NCT01561846 Phase 1, Phase 2
12 Effect of a Standard Meal on the Pharmacokinetic Profile of RP-G28 in Healthy Adult Male and Female Subjects Completed NCT03563846 Phase 1 RP-G28
13 The Effects of Lactose Intolerance on Gastrointestinal Function and Symptoms in a Chinese Population Unknown status NCT01286597 Not Applicable
14 Whole Milk Intake and Cardio-metabolic Risk Factors Unknown status NCT02798718 Not Applicable
15 Perceived Lactose Intolerance Completed NCT01331265
16 Comparison of the Colonic Metabolism in Patients With Lactose Intolerance and Healthy Controls Completed NCT02171403
17 Secondary Lactose Intolerance Due to Chronic Norovirus Infection Completed NCT01840891 Not Applicable
18 The Effect of Probiotics on Lactose Intolerance Completed NCT01593800 Not Applicable
19 β-galactosidase Producing Probiotic Strains to Improve Lactose Digestion Completed NCT02518295 Not Applicable
20 Amount of Lactose Causing Symptoms in People With Lactose Intolerance and Ulcerative Colitis Completed NCT00403923
21 Effects of Raw Versus Other Milk Sources on Lactose Digestion Completed NCT01129791 Not Applicable
22 Amount of Lactose Causing Symptoms in Lactose Intolerant People Completed NCT00395954
23 Althera® Versus Nutramigen / Cow's Milk Intolerance Completed NCT01727115 Not Applicable
24 Acid Lactase in Combination With Yoghurt Bacteria for Improvement of Lactose Digestion in Lactose Malabsorbers Completed NCT01593631 Not Applicable
25 HYBRID: Hydrogen Breath Test in Lactose Digestion Completed NCT02703987 Not Applicable
26 Effects of Lactose on Fecal Microflora Completed NCT00599859 Not Applicable
27 Calcium Absorption in Postmenopausal Thai Women Completed NCT02291315
28 Colonization and Persistence of Bifidobacterium Longum Completed NCT01650753 Not Applicable
29 Endomicroscopy, IBS and Food Intolerance Completed NCT01692613
30 Effect of Fructose on Colonic Microflora Completed NCT00775567 Not Applicable
31 Post-exercise Recovery After Dietary Protein Ingestion in Healthy Young Men (Meat-Milk Study) Completed NCT01578590 Not Applicable
32 Observational Study With PASCALLERG ® in Patients With Hay Fever Completed NCT01660737
33 "Functional Bowel Disorder. Investigation in General Practice" Completed NCT01153295 Not Applicable
34 Improving Bone Health in Adolescence Through Targeted Behavioral Intervention Completed NCT02202889 Not Applicable
35 Lactose Intolerance and Cow's Milk Protein Allergy in Non-celiac Wheat Sensitivity Patients Recruiting NCT03008252
36 Effects of A2 Milk on Gastrointestinal Function in Non-lactose Milk Intolerance Recruiting NCT03060395 Not Applicable
37 Modulation of Lactase Expression by a New PPARgamma Ligand in Duodenal Biopsies Recruiting NCT02902016 Not Applicable GED
38 Fructose and Lactose Intolerance and Malabsorption in Functional Gastrointestinal Disorders Active, not recruiting NCT02085889
39 Clinical Utility of Breath Tests in GI Not yet recruiting NCT03261856
40 Validation of a Home-Screening Test for Lactose Intolerance Suspended NCT00844766
41 Prevalence of Lactose Intolerance Following Stem Cell Transplantation Terminated NCT00247806
42 Evaluation of Fecal Calprotectin Screening and a Gastroenterology Questionnaire for Triaging Children With Chronic Abdominal Pain and/or Diarrhea Referred to a Pediatric Gastroenterology Service Terminated NCT01866774 Not Applicable

Search NIH Clinical Center for Lactose Intolerance

Cochrane evidence based reviews: lactose intolerance

Sources

Genetic Tests for Lactose Intolerance

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Anatomical Context for Lactose Intolerance

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MalaCards organs/tissues related to Lactose Intolerance:

41
Testes, Small Intestine, Kidney, Colon, Bone, Prostate, Thyroid
Sources

Publications for Lactose Intolerance

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Articles related to Lactose Intolerance:

(show top 50) (show all 444)
# Title Authors Year
1
One-third of children with lactose intolerance managed to achieve a regular diet at the three-year follow-up point. ( 29505134 )
2018
2
Prevalence, cause and diagnosis of lactose intolerance in children aged 1-5 years: a systematic review of 1995-2015 literature. ( 29222879 )
2018
3
Managing acute pain in patients who report lactose intolerance: the safety of an old excipient re-examined. ( 29796247 )
2018
4
The effects of probiotics in lactose intolerance: A systematic review. ( 29425071 )
2018
5
Lactose Intolerance (LCT-13910C>T) Genotype Is Associated with Plasma 25-Hydroxyvitamin D Concentrations in Caucasians: A Mendelian Randomization Study. ( 28446633 )
2017
6
Genetic predictors of celiac disease, lactose intolerance, and vitamin D function and presence of peptide morphins in urine of children with neurodevelopmental disorders. ( 28738753 )
2017
7
Lactase Non-persistence and Lactose Intolerance. ( 28421381 )
2017
8
Lactose intolerance and gastrointestinal cow's milk allergy in infants and children - common misconceptions revisited. ( 29270244 )
2017
9
Prevalence of lactose intolerance in patients with diarrhea-predominant irritable bowel syndrome: data from a tertiary center in southern China. ( 29157302 )
2017
10
Successful Treatment With Phenobarbital Following Lactase Supplementation in an Infant With Lactose Intolerance. ( 28821216 )
2017
11
Diagnosis of genetic predisposition for lactose intolerance by high resolution melting analysis. ( 28132945 )
2017
12
Comparison of an increased waist circumference with a positive hydrogen breath test as a clinical predictor of lactose intolerance. ( 28318180 )
2017
13
Lactose Intolerance and Colorectal Cancer. ( 29159160 )
2017
14
ORAL ADMINISTRATION OF EXOGENOUS LACTASE IN TABLETS FOR PATIENTS DIAGNOSED WITH LACTOSE INTOLERANCE DUE TO PRIMARY HYPOLACTASIA. ( 27706451 )
2016
15
Perception of lactose intolerance impairs health-related quality of life. ( 27188918 )
2016
16
Prevalence and Symptom Correlation of Lactose Intolerance in the North East Part of Bangladesh. ( 26931253 )
2016
17
The incidence of infants with rotavirus enteritis combined with lactose intolerance. ( 27005498 )
2016
18
A relationship between vitamin D, parathyroid hormone, calcium levels and lactose intolerance in type 2 diabetic patients and healthy subjects: Vitamin D in type 2 diabetic patients. ( 27642086 )
2016
19
Differentiating milk allergy (IgE and non-IgE mediated) from lactose intolerance: understanding the underlying mechanisms and presentations. ( 27481986 )
2016
20
Diagnosis of lactose intolerance. ( 28038856 )
2016
21
Patients with lactose intolerance absorb liquid levothyroxine better than tablet levothyroxine. ( 27577569 )
2016
22
Lactase persistence versus lactose intolerance: Is there an intermediate phenotype? ( 26601570 )
2016
23
The effects of the DDS-1 strain of lactobacillus on symptomatic relief for lactose intolerance - a randomized, double-blind, placebo-controlled, crossover clinical trial. ( 27207411 )
2016
24
Clinical evaluation, biochemistry and genetic polymorphism analysis for the diagnosis of lactose intolerance in a population from northeastern Brazil. ( 26934237 )
2016
25
Do patients with lactose intolerance exhibit more frequent comorbidities than patients without lactose intolerance? An analysis of routine data from German medical practices. ( 27065730 )
2016
26
The management of lactose intolerance among primary care physicians and its correlation with management by gastroenterologists: the SEPD-SEMG national survey. ( 26334462 )
2015
27
Lactose intolerance in Indonesian children. ( 26715082 )
2015
28
Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene. ( 25881162 )
2015
29
Lactose intolerance. ( 26715083 )
2015
30
Self-reported lactose intolerance in clinic patients with functional gastrointestinal symptoms: prevalence, risk factors, and impact on food choices. ( 26095206 )
2015
31
Lactose Intolerance in Adults: Biological Mechanism and Dietary Management. ( 26393648 )
2015
32
P543. Assessment of lactose intolerance in ulcerative colitis patients on remission. ( 25718041 )
2015
33
Recent Advances on Lactose Intolerance: Tolerance Thresholds and Currently Available Solutions. ( 26713460 )
2015
34
Prevalence of Lactose Malabsorption and Lactose Intolerance in Pediatric Patients with Selected Gastrointestinal Diseases. ( 26768639 )
2015
35
Contribution of Colonic Fermentation and Fecal Water Toxicity to the Pathophysiology of Lactose-Intolerance. ( 26371036 )
2015
36
The Diverse Forms of Lactose Intolerance and the Putative Linkage to Several Cancers. ( 26343715 )
2015
37
Probiotics for lactose intolerance and irritable bowel syndrome. ( 26087202 )
2015
38
The management of lactose intolerance among primary care physicians and its correlation with management by gastroenterologists: The SEPD-SEMG national survey. ( 26198877 )
2015
39
The Interrelationships between Lactose Intolerance and the Modern Dairy Industry: Global Perspectives in Evolutional and Historical Backgrounds. ( 26404364 )
2015
40
Effect of raw milk on lactose intolerance: a randomized controlled pilot study. ( 24615309 )
2014
41
An association between lactose intolerance and anthropometric variables in the Sudanese Shagia tribe (East Africa). ( 24502673 )
2014
42
Lactose intolerance genetic testing: Is it useful as routine screening? Results on 1426 south-central Italy patients. ( 25281930 )
2014
43
Lactose intolerance and risk of lung, breast and ovarian cancers: aetiological clues from a population-based study in Sweden. ( 25314053 )
2014
44
Prevalence of lactose intolerance in chile: a double-blind placebo study. ( 25096822 )
2014
45
Lactose intolerance and other disaccharidase deficiency. ( 24596060 )
2014
46
Novel epoxy activated hydrogels for solving lactose intolerance. ( 25013804 )
2014
47
Lactose intolerance in irritable bowel syndrome patients with diarrhoea: the roles of anxiety, activation of the innate mucosal immune system and visceral sensitivity. ( 24308871 )
2014
48
I recently had a lactose breath test to check for lactose intolerance. I'm not lactose intolerant, but now my doctor has ordered a lactulose breath test. Why do I need two tests? ( 24818298 )
2014
49
The differences between lactose intolerance and cow's milk protein allergy. ( 24665517 )
2014
50
Perception of lactose intolerance in irritable bowel syndrome patients. ( 25089542 )
2014
Sources

Variations for Lactose Intolerance

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ClinVar genetic disease variations for Lactose Intolerance:

6
(show top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 LCT NM_002299.3(LCT): c.*444_*445delGT deletion Likely benign rs140433552 GRCh38 Chromosome 2, 135787879: 135787880
2 LCT NM_002299.3(LCT): c.*444_*445delGT deletion Likely benign rs140433552 GRCh37 Chromosome 2, 136545449: 136545450
3 LCT NM_002299.3(LCT): c.*50G> C single nucleotide variant Benign rs1042712 GRCh38 Chromosome 2, 135788274: 135788274
4 LCT NM_002299.3(LCT): c.*50G> C single nucleotide variant Benign rs1042712 GRCh37 Chromosome 2, 136545844: 136545844
5 LCT NM_002299.3(LCT): c.5529C> T (p.Pro1843=) single nucleotide variant Uncertain significance rs761696901 GRCh38 Chromosome 2, 135789605: 135789605
6 LCT NM_002299.3(LCT): c.5529C> T (p.Pro1843=) single nucleotide variant Uncertain significance rs761696901 GRCh37 Chromosome 2, 136547175: 136547175
7 LCT NM_002299.3(LCT): c.4922T> C (p.Val1641Ala) single nucleotide variant Uncertain significance rs557029000 GRCh38 Chromosome 2, 135798083: 135798083
8 LCT NM_002299.3(LCT): c.4922T> C (p.Val1641Ala) single nucleotide variant Uncertain significance rs557029000 GRCh37 Chromosome 2, 136555653: 136555653
9 LCT NM_002299.3(LCT): c.4777G> A (p.Val1593Met) single nucleotide variant Likely benign rs35891837 GRCh38 Chromosome 2, 135800696: 135800696
10 LCT NM_002299.3(LCT): c.4777G> A (p.Val1593Met) single nucleotide variant Likely benign rs35891837 GRCh37 Chromosome 2, 136558266: 136558266
11 LCT NM_002299.3(LCT): c.4695C> T (p.Tyr1565=) single nucleotide variant Uncertain significance rs886054862 GRCh38 Chromosome 2, 135800778: 135800778
12 LCT NM_002299.3(LCT): c.4695C> T (p.Tyr1565=) single nucleotide variant Uncertain significance rs886054862 GRCh37 Chromosome 2, 136558348: 136558348
13 LCT NM_002299.3(LCT): c.4606C> T (p.Leu1536=) single nucleotide variant Benign rs2304371 GRCh38 Chromosome 2, 135803987: 135803987
14 LCT NM_002299.3(LCT): c.4606C> T (p.Leu1536=) single nucleotide variant Benign rs2304371 GRCh37 Chromosome 2, 136561557: 136561557
15 LCT NM_002299.3(LCT): c.4347T> C (p.Phe1449=) single nucleotide variant Uncertain significance rs17699796 GRCh38 Chromosome 2, 135804884: 135804884
16 LCT NM_002299.3(LCT): c.4347T> C (p.Phe1449=) single nucleotide variant Uncertain significance rs17699796 GRCh37 Chromosome 2, 136562454: 136562454
17 LCT NM_002299.3(LCT): c.4173+6_4173+8delGAG deletion Uncertain significance rs375300532 GRCh38 Chromosome 2, 135807120: 135807122
18 LCT NM_002299.3(LCT): c.4173+6_4173+8delGAG deletion Uncertain significance rs375300532 GRCh37 Chromosome 2, 136564690: 136564692
19 LCT NM_002299.3(LCT): c.3286G> A (p.Ala1096Thr) single nucleotide variant Uncertain significance rs146467199 GRCh38 Chromosome 2, 135809061: 135809061
20 LCT NM_002299.3(LCT): c.3286G> A (p.Ala1096Thr) single nucleotide variant Uncertain significance rs146467199 GRCh37 Chromosome 2, 136566631: 136566631
21 LCT NM_002299.3(LCT): c.3285C> T (p.His1095=) single nucleotide variant Uncertain significance rs372534937 GRCh38 Chromosome 2, 135809062: 135809062
22 LCT NM_002299.3(LCT): c.3285C> T (p.His1095=) single nucleotide variant Uncertain significance rs372534937 GRCh37 Chromosome 2, 136566632: 136566632
23 LCT NM_002299.3(LCT): c.3006G> A (p.Arg1002=) single nucleotide variant Uncertain significance rs114815229 GRCh38 Chromosome 2, 135809341: 135809341
24 LCT NM_002299.3(LCT): c.3006G> A (p.Arg1002=) single nucleotide variant Uncertain significance rs114815229 GRCh37 Chromosome 2, 136566911: 136566911
25 LCT NM_002299.3(LCT): c.2883C> T (p.Ala961=) single nucleotide variant Uncertain significance rs140994860 GRCh38 Chromosome 2, 135809464: 135809464
26 LCT NM_002299.3(LCT): c.2883C> T (p.Ala961=) single nucleotide variant Uncertain significance rs140994860 GRCh37 Chromosome 2, 136567034: 136567034
27 LCT NM_002299.3(LCT): c.2763G> A (p.Ala921=) single nucleotide variant Uncertain significance rs116951780 GRCh38 Chromosome 2, 135809584: 135809584
28 LCT NM_002299.3(LCT): c.2763G> A (p.Ala921=) single nucleotide variant Uncertain significance rs116951780 GRCh37 Chromosome 2, 136567154: 136567154
29 LCT NM_002299.3(LCT): c.1461G> A (p.Ala487=) single nucleotide variant Uncertain significance rs146206234 GRCh38 Chromosome 2, 135817587: 135817587
30 LCT NM_002299.3(LCT): c.1461G> A (p.Ala487=) single nucleotide variant Uncertain significance rs146206234 GRCh37 Chromosome 2, 136575157: 136575157
31 LCT NM_002299.3(LCT): c.655G> A (p.Val219Ile) single nucleotide variant Benign rs3754689 GRCh38 Chromosome 2, 135833176: 135833176
32 LCT NM_002299.3(LCT): c.655G> A (p.Val219Ile) single nucleotide variant Benign rs3754689 GRCh37 Chromosome 2, 136590746: 136590746
33 LCT NM_002299.3(LCT): c.643G> A (p.Gly215Arg) single nucleotide variant Uncertain significance rs886054869 GRCh38 Chromosome 2, 135833188: 135833188
34 LCT NM_002299.3(LCT): c.643G> A (p.Gly215Arg) single nucleotide variant Uncertain significance rs886054869 GRCh37 Chromosome 2, 136590758: 136590758
35 LCT NM_002299.3(LCT): c.582C> T (p.Thr194=) single nucleotide variant Benign rs2236783 GRCh38 Chromosome 2, 135836588: 135836588
36 LCT NM_002299.3(LCT): c.582C> T (p.Thr194=) single nucleotide variant Benign rs2236783 GRCh37 Chromosome 2, 136594158: 136594158
37 LCT NM_002299.3(LCT): c.*429A> C single nucleotide variant Likely benign rs77631953 GRCh37 Chromosome 2, 136545465: 136545465
38 LCT NM_002299.3(LCT): c.*429A> C single nucleotide variant Likely benign rs77631953 GRCh38 Chromosome 2, 135787895: 135787895
39 LCT NM_002299.3(LCT): c.*325G> C single nucleotide variant Uncertain significance rs62170085 GRCh38 Chromosome 2, 135787999: 135787999
40 LCT NM_002299.3(LCT): c.*325G> C single nucleotide variant Uncertain significance rs62170085 GRCh37 Chromosome 2, 136545569: 136545569
41 LCT NM_002299.3(LCT): c.5768C> A (p.Pro1923Gln) single nucleotide variant Likely benign rs114828879 GRCh38 Chromosome 2, 135788340: 135788340
42 LCT NM_002299.3(LCT): c.5768C> A (p.Pro1923Gln) single nucleotide variant Likely benign rs114828879 GRCh37 Chromosome 2, 136545910: 136545910
43 LCT NM_002299.3(LCT): c.4916A> G (p.Asn1639Ser) single nucleotide variant Benign rs2322659 GRCh38 Chromosome 2, 135798089: 135798089
44 LCT NM_002299.3(LCT): c.4916A> G (p.Asn1639Ser) single nucleotide variant Benign rs2322659 GRCh37 Chromosome 2, 136555659: 136555659
45 LCT NM_002299.3(LCT): c.4576C> T (p.Leu1526=) single nucleotide variant Uncertain significance rs140074771 GRCh37 Chromosome 2, 136561587: 136561587
46 LCT NM_002299.3(LCT): c.4576C> T (p.Leu1526=) single nucleotide variant Uncertain significance rs140074771 GRCh38 Chromosome 2, 135804017: 135804017
47 LCT NM_002299.3(LCT): c.4434T> C (p.Asp1478=) single nucleotide variant Uncertain significance rs778761405 GRCh38 Chromosome 2, 135804797: 135804797
48 LCT NM_002299.3(LCT): c.4434T> C (p.Asp1478=) single nucleotide variant Uncertain significance rs778761405 GRCh37 Chromosome 2, 136562367: 136562367
49 LCT NM_002299.3(LCT): c.3848C> T (p.Thr1283Met) single nucleotide variant Uncertain significance rs147755711 GRCh38 Chromosome 2, 135808499: 135808499
50 LCT NM_002299.3(LCT): c.3848C> T (p.Thr1283Met) single nucleotide variant Uncertain significance rs147755711 GRCh37 Chromosome 2, 136566069: 136566069
Sources

Expression for Lactose Intolerance

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Search GEO for disease gene expression data for Lactose Intolerance.
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Pathways for Lactose Intolerance

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Pathways related to Lactose Intolerance according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.43 ALDOB ANPEP LCT SI SLC5A1 TREH
2
Glycosaminoglycan metabolism 66
Show member pathways
 12.3 ALDOB LCT SI SLC5A1 TREH
3
Galactose metabolism 37 22
Show member pathways
 11.52 LCT SI TREH
4
Carbohydrate digestion and absorption 37
10.78 LCT SI SLC5A1
5
Digestion of dietary carbohydrate 66
9.75 LCT SI TREH
Sources

GO Terms for Lactose Intolerance

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Cellular components related to Lactose Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.02 ALDOB ANPEP SI SLC5A1 TREH

Biological processes related to Lactose Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.13 LCT SI TREH
2 polysaccharide digestion GO:0044245 8.62 LCT SI

Molecular functions related to Lactose Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.55 ANPEP LCT MCM6 SI TREH
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.96 LCT SI
3 hydrolase activity, acting on glycosyl bonds GO:0016798 8.8 LCT SI TREH
Sources

Sources for Lactose Intolerance

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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
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