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MCID: LCT002
MIFTS: 51

Lactose Intolerance

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic 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 43 54 6 42 44 15 62 39 17 70 32
Lm - Lactose Malabsorption 12
Dairy Product Intolerance 43
Milk Sugar Intolerance 43
Lactose Malabsorption 43
Hypolactasia 43
Alactasia 43

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:10604
MeSH 44 D007787
NCIt 50 C3154
SNOMED-CT 67 267497007
ICD10 32 E73 E73.9
UMLS 70 C0022951
Sources

Summaries for Lactose Intolerance

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MedlinePlus Genetics : 43 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.Congenital lactase deficiency, also called congenital alactasia, is a disorder in which infants are unable to break down lactose in breast milk or formula. This form of lactose intolerance results in severe diarrhea. If affected infants are not given a lactose-free infant formula, they may develop severe dehydration and weight loss.Lactose intolerance in adulthood is caused by reduced production of lactase after infancy (lactase nonpersistence). If individuals with lactose intolerance consume lactose-containing dairy products, they may experience abdominal pain, bloating, flatulence, nausea, and diarrhea beginning 30 minutes to 2 hours later.Most people with lactase nonpersistence retain some lactase activity and can include varying amounts of lactose in their diets without experiencing symptoms. Often, affected individuals have difficulty digesting fresh milk but can eat certain dairy products such as cheese or yogurt without discomfort. These foods are made using fermentation processes that break down much of the lactose in milk.

MalaCards based summary : Lactose Intolerance, also known as lm - lactose malabsorption, is related to lactose intolerance, adult type and diarrhea, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Lactose Intolerance is LCT (Lactase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Galactose metabolism. The drugs Caseins and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and skin, and related phenotypes are Reduced mammosphere formation and endocrine/exocrine gland

Disease Ontology : 12 A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose.

MedlinePlus : 42 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

PubMed Health : 62 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.

Wikipedia : 73 Lactose intolerance is a common condition caused by a decreased ability to digest lactose, a sugar found... more...

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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 top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 lactose intolerance, adult type 32.9 MCM6 LCT
2 diarrhea 31.3 TGM2 SI LCT IL10 ALB
3 functional diarrhea 30.7 LCT ATP4A ATP12A
4 irritable bowel syndrome 30.6 TGM2 IL10 CRP
5 milk allergy 30.2 LALBA IL10 CSN2 CSN1S1
6 blind loop syndrome 30.0 ATP4A ATP12A ALB
7 food allergy 29.9 IL10 CSN1S1 ALB
8 gastroenteritis 29.9 IL10 CRP ANPEP ALB
9 peptic ulcer disease 29.8 IL10 ATP4A ATP12A
10 nutritional deficiency disease 29.7 SI CRP ALB
11 thyroiditis 29.6 INS IL10 CRP
12 kwashiorkor 29.6 LALBA INS CRP ALB
13 dental caries 29.6 CSN1S1 CRP ALB
14 constipation 29.5 PTH INS CRP ATP4A ATP12A ALB
15 giardiasis 29.2 TOR1A TGM2 LCT IL10 ATP4A ATP12A
16 otitis media 29.1 IL10 CRP ALB
17 dysentery 29.1 IL10 CRP ATP4A ATP12A ALB
18 osteoporosis 29.0 TGM2 PTH LCT INS IL10 CRP
19 deficiency anemia 28.5 TOR1A PTH INS CRP ATP4A ATP12A
20 celiac disease 1 28.2 TOR1A TGM2 PTH LCT LALBA INS
21 lactase deficiency, congenital 11.5
22 congenital short bowel syndrome 11.1
23 osmotic diarrhea 11.1
24 short bowel syndrome 11.1
25 streptococcal group a invasive disease 11.1
26 overgrowth syndrome 10.5
27 bone mineral density quantitative trait locus 8 10.4
28 bone mineral density quantitative trait locus 15 10.4
29 ulcerative colitis 10.4
30 vagus nerve disease 10.4 ATP4A ATP12A
31 scalp dermatosis 10.4 ATP4A ATP12A
32 hemangioma of intra-abdominal structure 10.4 ATP4A ATP12A
33 acquired gastric outlet stenosis 10.4 ATP4A ATP12A
34 lingual goiter 10.4 ATP4A ATP12A
35 displacement of cardia through esophageal hiatus 10.4 ATP4A ATP12A
36 bacterial esophagitis 10.4 ATP4A ATP12A
37 cascade stomach 10.4 ATP4A ATP12A
38 cervix erosion 10.3 ATP4A ATP12A
39 angiodysplasia of intestine 10.3 ATP4A ATP12A
40 granulomatous gastritis 10.3 ATP4A ATP12A
41 laryngeal tuberculosis 10.3 ATP4A ATP12A
42 fungal esophagitis 10.3 ATP4A ATP12A
43 dieulafoy lesion 10.3 ATP4A ATP12A
44 esophagus melanoma 10.3 ATP4A ATP12A
45 cefuroxime allergy 10.3 ATP4A ATP12A
46 gastric gastrinoma 10.3 ATP4A ATP12A
47 chronic laryngitis 10.3 ATP4A ATP12A
48 gastroduodenal crohn's disease 10.3 ATP4A ATP12A
49 central nervous system origin vertigo 10.3 ATP4A ATP12A
50 rumination disorder 10.3 ATP4A ATP12A

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:


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

GenomeRNAi Phenotypes related to Lactose Intolerance according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 ALB ATP4A GLB1 LALBA MCM6 RECK

MGI Mouse Phenotypes related to Lactose Intolerance:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.32 ALB ANPEP ATP4A CSN2 IL10 INS
Sources

Drugs & Therapeutics for Lactose Intolerance

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Caseins Phase 4
2
Sorbitol Approved 50-70-4 5780
3
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
4 Retinol palmitate
5 retinol
6 Calcium, Dietary
7 Chelating Agents
8 insulin
9 Insulin, Globin Zinc
10 Antiparasitic Agents
11 Antimalarials
12 Antiprotozoal Agents
13 Anti-Infective Agents
14 Sulfalene
15 Soy Bean
16 Pharmaceutical Solutions
17 Cola
18 Acidophilus
19
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Impact of LacTEST on Diagnostic Thinking and on Patient Management, and of the Reproducibility (Test-Retest), 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 Comparative Effects of Milk With A2 Type Beta Casein Versus Milk With A1 and A2 Beta Casein Proteins on Gastrointestinal Physiology, Symptoms and Cognitive Behavior for the Health People Who Are Intolerant to Traditional Cow Milk Completed NCT02406469 Phase 4
4 A Phase III, Non-Inferiority, Randomized, Double-Blind, Parallel-Group, Multicentre, Single-Dose, Comparative Clinical Study of Lactase Eurofarma (Test Drug) and Lactaid® (Comparative Drug), Assessing the Efficacy and Safety in the Treatment of Patients With Lactose Intolerance (Hypolactasia) Completed NCT01145339 Phase 3 Lactase
5 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy, Durability, Safety, and Tolerability of RP-G28 in Patients With Lactose Intolerance Completed NCT03597516 Phase 3 RP-G28;Placebos
6 A Phase III, Non-Inferiority, Randomized, Blind, Parallel-Group, Multicentre, Multiple-Dose, Comparative Clinical Study of Lactase Eurofarma and Lactaid®, Assessing the Efficacy and Safety in the Treatment of Patients With Lactose Intolerance" Completed NCT01145586 Phase 3 Lactase Oral Tablets
7 A Phase 2b/3, Multicenter, Randomized, Double-Blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy, Safety, and Tolerability of Two Doses of RP-G28 in Subjects With Lactose Intolerance Completed NCT02673749 Phase 2, Phase 3 RP-G28
8 Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Effectiveness, Safety and Tolerability of RP-G28 in Subjects With Symptoms Associated With Lactose Intolerance Completed NCT01113619 Phase 2 RP-G28 or placebo;RP-G28 or placebo
9 Prospective, Open-Label, Randomized, Two-Period, Two-Sequence, Crossover Study Comparing RP-G28 Administered in the Fasted State and the Effect of a Standard Meal on the Pharmacokinetic Profile of RP-G28 in Healthy Volunteers Completed NCT03563846 Phase 1 RP-G28
10 The Effects of Lactose Intolerance on Gastrointestinal Function and Symptoms in a Chinese Population Unknown status NCT01286597
11 Effect of Whole Milk Intake on the Cardio-metabolic Risk Factors of Healthy Person With or Without Lactose Maldigestion Unknown status NCT02798718
12 A Combination of Yoghurt Bacteria and Acid Lactase From Aspergillus Oryzae Improves Lactose Digestion in Lactose Malabsorbers More Reliably Than Preparations Containing Acid Lactase or Yoghurt Bacteria Alone Completed NCT01593631
13 Lactose Intolerance and Cow's Milk Protein Allergy in Non-celiac Wheat Sensitivity Patients Completed NCT03008252
14 Differential Biologic Impact of Lactose Consumption in Lactase Persistent and Non-persistent Populations: Evaluation of Microflora and Insulin/Glycemic Response Completed NCT00599859
15 The Effect of Probiotics on Lactose Intolerance Completed NCT01593800
16 β-galactosidase Producing Probiotic Strains to Improve Lactose Digestion: Probiotic and Lactose Intolerance Completed NCT02518295
17 Comparison of Raw Milk Consumption vs. Other Milk Sources on Lactose Digestion in Healthy Individuals With Self-reported Lactose Intolerance Completed NCT01129791
18 Efficacy of Probiotic I31 on Symptomatic Improvement in Patients With Lactose Intolerance Completed NCT04164394
19 A Randomized, Controlled, Double-blind, Cross-over, Single-centre Study to Investigate the Effect of a Fermented Infant Formula on Lactose Digestion in Lactose Intolerant Adults Completed NCT02703987
20 Effect of Probiotic Supplementation on Lactose Maldigestion Induced by Lactose Solution: Randomized, Double-blind, Placebo-controlled, Positive-controlled, Three-way Crossover, Acute Lactose Challenge Completed NCT03814668
21 Understanding Perceived Lactose Intolerance in White, Black, and Hispanic Adults Completed NCT01331265
22 Modulation of Lactase Expression by a New Synthetic PPARgamma Ligand in Ex-vivo Cultures of Duodenal Biopsies Completed NCT02902016 GED
23 A Study to Determine the Threshold of Lactose Ingestion That Provokes Symptoms in Lactose Intolerant People. Completed NCT00395954
24 Comparison of the Colonic Metabolism in Patients With Lactose Intolerance and Healthy Controls Completed NCT02171403
25 A Study to Determine the Threshold of Lactose Ingestion That Provokes Symptoms in Lactose Intolerant People Who Also Have Ulcerative Colitis Completed NCT00403923
26 Secondary Lactose Intolerance Due to Chronic Norovirus Infection in Renal Transplant Recipients Completed NCT01840891
27 Comparison of Two Extensively Hydrolyzed Formulas for the Treatment of Children With Cow's Milk Intolerance Completed NCT01727115
28 Clinical Utility of Carbohydrate Breath Tests in Unexplained GI Symptoms Completed NCT03261856
29 Effects of A2 Milk on Gastrointestinal Function of Volunteers Affected by Non-lactose Milk Intolerance Completed NCT03060395
30 Does Daily Supplementation of Lactobacillus Acidophilus MPH734 (Lacto-FreedomTM, or LF), for One Week, Affects Acute (Immediate), Subacute (7 Days), and Post-treatment Discontinuation (30-, 60-, and 90- Day) Lactose Metabolism, Gastrointestinal Symptoms, and Clinical Markers of Inflammation and Safety Compared to a Placebo? Recruiting NCT04531033
31 Association Between Lactase Deficiency, Symptoms of Lactose Intolerance, and the Small Intestinal Microbiome in Adults Recruiting NCT03860051
32 Fructose and Lactose Intolerance and Malabsorption: the Relationship Between Metabolism and Symptoms in Functional Gastrointestinal Disorders Recruiting NCT02085889
33 Personalized Nutrition & Citizen Science: A Healthy Diet Through Algorithms Recruiting NCT03848299
34 Evaluation of GIMate Handheld Hydrogen Breath Monitor for Diagnosis of Lactose Malabsorption Not yet recruiting NCT04754724
35 Effect of the Consumption of a Probiotic (B. Bifidum 900791)-Containing Ice-cream in Adult With Hypolactasia and Lactose Intolerance Not yet recruiting NCT03952988
36 Prevalence of Lactose Intolerance Following Stem Cell Transplantation in Pediatric Patients. Terminated NCT00247806
37 A Study to Validate a Home-screening Test for Lactose Intolerant People Withdrawn NCT00844766

Search NIH Clinical Center for Lactose Intolerance

Cochrane evidence based reviews: lactose intolerance

Sources

Genetic Tests for Lactose Intolerance

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Sources

Anatomical Context for Lactose Intolerance

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MalaCards organs/tissues related to Lactose Intolerance:

40
Bone, Liver, Skin, Small Intestine, Colon, Whole Blood, Heart
Sources

Publications for Lactose Intolerance

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Articles related to Lactose Intolerance:

(show top 50) (show all 1395)
# Title Authors PMID Year
1
The Effect of Self-Reported Lactose Intolerance and Dairy Consumption on Bone Mineral Density Among American Hip Arthroplasty Patients: A Cross-Sectional Study. 42 61
33008062 2020
2
Effects of Prebiotic and Probiotic Supplementation on Lactase Deficiency and Lactose Intolerance: A Systematic Review of Controlled Trials. 61 42
32443748 2020
3
Methane breath tests and blood sugar tests in children with suspected carbohydrate malabsorption. 42
33149229 2020
4
Effects of the lactase 13910 C/T and calcium-sensor receptor A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian population. 54 61
18980667 2008
5
Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia. 54 61
17651714 2007
6
Hydrogen breath testing versus LCT genotyping for the diagnosis of lactose intolerance: a matter of age? 54 61
17574225 2007
7
Hypolactasia as a molecular basis of lactose intolerance. 61 54
17133732 2006
8
Molecular cloning of a novel cDNA from Mus muscular BALB/c mice encoding glycosyl hydrolase family 1: a homolog of human lactase-phlorizin hydrolase. 54 61
17190185 2006
9
T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. 54 61
16301215 2005
10
The C/C(-13910) and G/G(-22018) genotypes for adult-type hypolactasia are not associated with inflammatory bowel disease. 54 61
12795467 2003
11
Identification of a variant associated with adult-type hypolactasia. 54 61
11788828 2002
12
Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase. 54 61
11332711 2001
13
Biogenesis of intestinal lactase-phlorizin hydrolase in adults with lactose intolerance. Evidence for reduced biosynthesis and slowed-down maturation in enterocytes. 54 61
1976654 1990
14
Lactose Sensitivity and Lactose Malabsorption: The 2 Faces of Lactose Intolerance. 61
33361550 2021
15
Irritable bowel syndrome and lactose intolerance: the importance of differential diagnosis. A monocentric study. 61
32623873 2021
16
The effect of yogurt fortified with Lactobacillus acidophilus and Bifidobacterium sp. probiotic in patients with lactose intolerance. 61
33747481 2021
17
Irritable bowel syndrome and lactose intolerance: a challenging overlap. 61
33016665 2021
18
Probiotic lactobacilli: Can be a remediating supplement for pandemic COVID-19. A review. 61
33519144 2021
19
Hydrogen Breath Tests: Are They Really Useful in the Nutritional Management of Digestive Disease? 61
33802839 2021
20
Current trends in non-dairy based synbiotics. 61
33749462 2021
21
Generation of Lactose- and Protease-Positive Probiotic Lacticaseibacillus rhamnosus GG by Conjugation with Lactococcus lactis NCDO 712. 61
33419737 2021
22
Effects of Consumption of Coconut and Cow's Milk on the Metabolic Profile of Wistar Rats Fed a Hyperprotein Diet. 61
32544020 2021
23
Low-fat, lactose-free and leucine-enriched chocolate cow milk prototype: A preliminary study on sensorial acceptability and gastrointestinal complaints following exhaustive exercise. 61
33568169 2021
24
High prevalence of food intolerances among US internet users. 61
32924902 2021
25
Lactose intolerance in patients with inflammatory bowel diseases and dietary management in prevention of osteoporosis. 61
33316755 2021
26
Ganglioneuroblastoma u dziecka z przewlekÅ‚ym bólem brzucha ‒ opis przypadku. 61
33745248 2021
27
Milk consumption and multiple health outcomes: umbrella review of systematic reviews and meta-analyses in humans. 61
33413488 2021
28
Non-responsive celiac disease may coincide with additional food intolerance/malabsorption, including histamine intolerance. 61
33268003 2021
29
L-T4 Therapy in Enteric Malabsorptive Disorders. 61
33708175 2021
30
The self-management work of food hypersensitivity. 61
33667275 2021
31
Effects of therapeutic probiotics on modulation of microRNAs. 61
33430873 2021
32
Association of calcium intake, lactose intolerance and physical activity with bone health assessed via quantitative ultrasound among young adults of a Malaysian university. 61
33452644 2021
33
Effect of lactase on symptoms and hydrogen breath levels in lactose intolerance: A crossover placebo-controlled study. 61
33490624 2021
34
Characterization of crystalline forms of gaxilose, a diagnostic drug. 61
33472139 2021
35
Comparing Response of Sheep and Cow Milk on Acute Digestive Comfort and Lactose Malabsorption: A Randomized Controlled Trial in Female Dairy Avoiders. 61
33659266 2021
36
Milk Alternatives and Non-Dairy Fermented Products: Trends and Challenges. 61
33494460 2021
37
Evaluation of the probiotic and postbiotic potential of lactic acid bacteria from artisanal dairy products against pathogens. 61
33571152 2021
38
COVID-19: Cytokine storm modulation/blockade with oral polyvalent immunoglobulins (PVIG, KMP01D): A potential and safe therapeutic agent (Primum nil nocere). 61
33141018 2020
39
Effect of Green Banana (Musa paradisiaca) on Recovery in Children With Acute Watery Diarrhea With No Dehydration : A Randomized Controlled Trial. 61
32893836 2020
40
Milk Containing A2 β-Casein ONLY, as a Single Meal, Causes Fewer Symptoms of Lactose Intolerance than Milk Containing A1 and A2 β-Caseins in Subjects with Lactose Maldigestion and Intolerance: A Randomized, Double-Blind, Crossover Trial. 61
33348621 2020
41
Lactose after Roux-en-Y gastric bypass for morbid obesity, is it a problem? 61
33096008 2020
42
Conduct disorder and somatic health in children: a nationwide genetically sensitive study. 61
33334305 2020
43
Potential of probiotics from fermented cereal-based beverages in improving health of poor people in Africa. 61
33071315 2020
44
Can pseudocereals modulate microbiota by functioning as probiotics or prebiotics? 61
33190507 2020
45
Increasing Expiratory Hydrogen in Lactose Intolerance Is Associated with Additional Food Intolerance/Malabsorption. 61
33265924 2020
46
Cellulose nanocrystals incorporated β-chitosan nanoparticles to enhance the stability and in vitro release of β-galactosidase. 61
33233082 2020
47
Technical opinion of the Asociación Mexicana de Gastroenterología on soy plant-based beverages. 61
32863095 2020
48
Non-enzymatic and highly sensitive lactose detection utilizing graphene field-effect transistors. 61
32729537 2020
49
Milk allergy most burdensome in multi-food allergic children. 61
32413203 2020
50
Methods and Findings on Diet and Lifestyle Used to Support Estimation of Radiation Doses from Radioactive Fallout from the Trinity Nuclear Test. 61
32881737 2020
Sources

Variations for Lactose Intolerance

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ClinVar genetic disease variations for Lactose Intolerance:

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LCT NM_002299.4(LCT):c.2760C>T (p.Gly920=) SNV Uncertain significance 331194 rs200579267 GRCh37: 2:136567157-136567157
GRCh38: 2:135809587-135809587
2 LCT NM_002299.4(LCT):c.5771T>C (p.Val1924Ala) SNV Uncertain significance 331161 rs886054861 GRCh37: 2:136545907-136545907
GRCh38: 2:135788337-135788337
3 LCT NM_002299.4(LCT):c.2763G>A (p.Ala921=) SNV Uncertain significance 331193 rs116951780 GRCh37: 2:136567154-136567154
GRCh38: 2:135809584-135809584
4 LCT NM_002299.4(LCT):c.54G>C (p.Trp18Cys) SNV Uncertain significance 331214 rs886054870 GRCh37: 2:136594686-136594686
GRCh38: 2:135837116-135837116
5 LCT NM_002299.4(LCT):c.4434T>C (p.Asp1478=) SNV Uncertain significance 331174 rs778761405 GRCh37: 2:136562367-136562367
GRCh38: 2:135804797-135804797
6 LCT NM_002299.4(LCT):c.*251G>A SNV Uncertain significance 331157 rs886054860 GRCh37: 2:136545643-136545643
GRCh38: 2:135788073-135788073
7 LCT NM_002299.4(LCT):c.5493C>T (p.Tyr1831=) SNV Uncertain significance 331166 rs369410973 GRCh37: 2:136547211-136547211
GRCh38: 2:135789641-135789641
8 LCT NM_002299.4(LCT):c.2457C>T (p.His819=) SNV Uncertain significance 331196 rs149425549 GRCh37: 2:136567460-136567460
GRCh38: 2:135809890-135809890
9 LCT NM_002299.4(LCT):c.621C>T (p.His207=) SNV Uncertain significance 331209 rs369174474 GRCh37: 2:136594119-136594119
GRCh38: 2:135836549-135836549
10 LCT NM_002299.4(LCT):c.4922T>C (p.Val1641Ala) SNV Uncertain significance 331167 rs557029000 GRCh37: 2:136555653-136555653
GRCh38: 2:135798083-135798083
11 LCT NM_002299.4(LCT):c.2177G>A (p.Arg726His) SNV Uncertain significance 331197 rs886054866 GRCh37: 2:136570057-136570057
GRCh38: 2:135812487-135812487
12 LCT NM_002299.4(LCT):c.319G>A (p.Glu107Lys) SNV Uncertain significance 331212 rs761296720 GRCh37: 2:136594421-136594421
GRCh38: 2:135836851-135836851
13 LCT NM_002299.4(LCT):c.4122C>T (p.Tyr1374=) SNV Uncertain significance 331179 rs557321611 GRCh37: 2:136564749-136564749
GRCh38: 2:135807179-135807179
14 LCT NM_002299.4(LCT):c.*10A>C SNV Uncertain significance 331160 rs200994158 GRCh37: 2:136545884-136545884
GRCh38: 2:135788314-135788314
15 LCT NM_002299.4(LCT):c.2883C>T (p.Ala961=) SNV Uncertain significance 331192 rs140994860 GRCh37: 2:136567034-136567034
GRCh38: 2:135809464-135809464
16 LCT NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) SNV Uncertain significance 331203 rs377102890 GRCh37: 2:136575222-136575222
GRCh38: 2:135817652-135817652
17 LCT NM_002299.4(LCT):c.4576C>T (p.Leu1526=) SNV Uncertain significance 331173 rs140074771 GRCh37: 2:136561587-136561587
GRCh38: 2:135804017-135804017
18 LCT NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) SNV Uncertain significance 331163 rs376732886 GRCh37: 2:136546022-136546022
GRCh38: 2:135788452-135788452
19 LCT NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr) SNV Uncertain significance 331185 rs886054863 GRCh37: 2:136566322-136566322
GRCh38: 2:135808752-135808752
20 LCT NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) SNV Uncertain significance 331170 rs886054862 GRCh37: 2:136558348-136558348
GRCh38: 2:135800778-135800778
21 LCT NM_002299.4(LCT):c.3759G>A (p.Thr1253=) SNV Uncertain significance 331183 rs764860323 GRCh37: 2:136566158-136566158
GRCh38: 2:135808588-135808588
22 LCT NM_002299.4(LCT):c.*230T>C SNV Uncertain significance 331158 rs749324196 GRCh37: 2:136545664-136545664
GRCh38: 2:135788094-135788094
23 LCT NM_002299.4(LCT):c.*325G>C SNV Uncertain significance 331156 rs62170085 GRCh37: 2:136545569-136545569
GRCh38: 2:135787999-135787999
24 LCT NM_002299.4(LCT):c.4173+6_4173+8del Microsatellite Uncertain significance 331178 rs375300532 GRCh37: 2:136564690-136564692
GRCh38: 2:135807120-135807122
25 LCT NM_002299.4(LCT):c.3532C>T (p.Leu1178=) SNV Uncertain significance 331186 rs886054864 GRCh37: 2:136566385-136566385
GRCh38: 2:135808815-135808815
26 LCT NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) SNV Uncertain significance 331199 rs886054867 GRCh37: 2:136570454-136570454
GRCh38: 2:135812884-135812884
27 LCT NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr) SNV Uncertain significance 331189 rs146467199 GRCh37: 2:136566631-136566631
GRCh38: 2:135809061-135809061
28 LCT NM_002299.4(LCT):c.1902C>T (p.Pro634=) SNV Uncertain significance 331198 rs202014246 GRCh37: 2:136570332-136570332
GRCh38: 2:135812762-135812762
29 LCT NM_002299.4(LCT):c.3986C>T (p.Thr1329Met) SNV Uncertain significance 331181 rs555708380 GRCh37: 2:136564885-136564885
GRCh38: 2:135807315-135807315
30 LCT NM_002299.4(LCT):c.3006G>A (p.Arg1002=) SNV Uncertain significance 331191 rs114815229 GRCh37: 2:136566911-136566911
GRCh38: 2:135809341-135809341
31 LCT NM_002299.4(LCT):c.3848C>T (p.Thr1283Met) SNV Uncertain significance 331182 rs147755711 GRCh37: 2:136566069-136566069
GRCh38: 2:135808499-135808499
32 LCT NM_002299.4(LCT):c.5529C>T (p.Pro1843=) SNV Uncertain significance 331165 rs761696901 GRCh37: 2:136547175-136547175
GRCh38: 2:135789605-135789605
33 LCT NM_002299.4(LCT):c.3390G>A (p.Glu1130=) SNV Uncertain significance 331187 rs886054865 GRCh37: 2:136566527-136566527
GRCh38: 2:135808957-135808957
34 LCT NM_002299.4(LCT):c.643G>A (p.Gly215Arg) SNV Uncertain significance 331208 rs886054869 GRCh37: 2:136590758-136590758
GRCh38: 2:135833188-135833188
35 LCT NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) SNV Uncertain significance 331184 rs148317168 GRCh37: 2:136566318-136566318
GRCh38: 2:135808748-135808748
36 LCT NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) SNV Uncertain significance 331205 rs886054868 GRCh37: 2:136575573-136575573
GRCh38: 2:135818003-135818003
37 LCT NM_002299.4(LCT):c.4347T>C (p.Phe1449=) SNV Uncertain significance 331175 rs17699796 GRCh37: 2:136562454-136562454
GRCh38: 2:135804884-135804884
38 LCT NM_002299.4(LCT):c.3285C>T (p.His1095=) SNV Uncertain significance 331190 rs372534937 GRCh37: 2:136566632-136566632
GRCh38: 2:135809062-135809062
39 LCT NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg) SNV Uncertain significance 331188 rs148838160 GRCh37: 2:136566576-136566576
GRCh38: 2:135809006-135809006
40 LCT NM_002299.4(LCT):c.4239A>G (p.Pro1413=) SNV Uncertain significance 331177 rs752925060 GRCh37: 2:136562562-136562562
GRCh38: 2:135804992-135804992
41 LCT NM_002299.4(LCT):c.4026G>A (p.Thr1342=) SNV Uncertain significance 331180 rs150640616 GRCh37: 2:136564845-136564845
GRCh38: 2:135807275-135807275
42 LCT NM_002299.4(LCT):c.1461G>A (p.Ala487=) SNV Uncertain significance 331201 rs146206234 GRCh37: 2:136575157-136575157
GRCh38: 2:135817587-135817587
43 LCT NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys) SNV Uncertain significance 331171 rs147495948 GRCh37: 2:136561517-136561517
GRCh38: 2:135803947-135803947
44 LCT NM_002299.4(LCT):c.454G>A (p.Ala152Thr) SNV Likely benign 331211 rs114525655 GRCh37: 2:136594286-136594286
GRCh38: 2:135836716-135836716
45 LCT NM_002299.4(LCT):c.*442_*443GT[1] Microsatellite Likely benign 331154 rs140433552 GRCh37: 2:136545449-136545450
GRCh38: 2:135787879-135787880
46 LCT NM_002299.4(LCT):c.*429A>C SNV Likely benign 331155 rs77631953 GRCh37: 2:136545465-136545465
GRCh38: 2:135787895-135787895
47 LCT NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) SNV Likely benign 331195 rs115690016 GRCh37: 2:136567203-136567203
GRCh38: 2:135809633-135809633
48 LCT NM_002299.4(LCT):c.729C>G (p.Val243=) SNV Likely benign 331206 rs3816088 GRCh37: 2:136587238-136587238
GRCh38: 2:135829668-135829668
49 LCT NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) SNV Likely benign 331162 rs114828879 GRCh37: 2:136545910-136545910
GRCh38: 2:135788340-135788340
50 LCT NM_002299.4(LCT):c.1650C>G (p.Gly550=) SNV Likely benign 331200 rs35093754 GRCh37: 2:136574968-136574968
GRCh38: 2:135817398-135817398
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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
Glycosaminoglycan metabolism 65
Show member pathways
 12.41 SLC2A5 SI LCT LALBA GLB1
2
Galactose metabolism 36 23
Show member pathways
 11.01 SI LCT LALBA GLB1
3
Carbohydrate digestion and absorption 36
10.8 SLC2A5 SI LCT
4
Digestion of dietary carbohydrate 65
10.11 SI LCT
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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 region GO:0005576 9.65 RECK PTH LALBA INS IL10 GLB1
2 extracellular space GO:0005615 9.36 PTH LALBA INS IL10 GLB1 CSN2

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

# Name GO ID Score Top Affiliating Genes
1 sodium ion export across plasma membrane GO:0036376 9.32 ATP4A ATP12A
2 cellular potassium ion homeostasis GO:0030007 9.26 ATP4A ATP12A
3 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.16 ATP4A ATP12A
4 carbohydrate metabolic process GO:0005975 9.02 SLC2A5 SI LCT INS GLB1
5 polysaccharide digestion GO:0044245 8.96 SI LCT

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 SI LCT GLB1
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP4A ATP12A
3 potassium-transporting ATPase activity GO:0008556 9.16 ATP4A ATP12A
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 SI LCT GLB1
5 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A
Sources

Sources for Lactose Intolerance

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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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