COLACD
MCID: LCT013
MIFTS: 45

Lactase Deficiency, Congenital (COLACD)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Lactase Deficiency, Congenital

MalaCards integrated aliases for Lactase Deficiency, Congenital:

Name: Lactase Deficiency, Congenital 57 12 53 43 38 71
Congenital Lactase Deficiency 11 58 73 28 5 14 31 33
Disaccharide Intolerance Ii 57 11 73
Congenital Lactose Malabsorption 11 33
Congenital Lactose Intolerance 11 33
Congenital Alactasia Syndrome 11 33
Congenital Alactasia 11 33
Hereditary Alactasia 73 33
Cld - [congenital Lactase Deficiency] 33
Disaccharide Intolerance Type 2 33
Lactose Intolerance of Newborn 33
Hereditary Lactase Deficiency 33
Disaccharide Intolerance 2 33
Alactasia, Congenital 57
Colacd 73
Cld 11

Characteristics:


Inheritance:

Lactase Deficiency, Congenital: Autosomal recessive 57
Congenital Lactase Deficiency: Autosomal recessive 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
increased frequency in finland (incidence 1:60,000 finnish newborns)
onset day of life 1-10 in infants fed lactose-containing milk


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0111646
OMIM® 57 223000
MeSH 43 C562600
SNOMED-CT 68 5388008
ICD10 31 E73.0
ICD10 via Orphanet 32 E73.0
UMLS via Orphanet 72 C0268179
Orphanet 58 ORPHA53690
MedGen 40 C0268179
ICD11 33 2109252471
UMLS 71 C0268179

Summaries for Lactase Deficiency, Congenital

UniProtKB/Swiss-Prot: 73 Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down- regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.

MalaCards based summary: Lactase Deficiency, Congenital, also known as congenital lactase deficiency, is related to lactose intolerance and chylomicron retention disease. An important gene associated with Lactase Deficiency, Congenital is LCT (Lactase), and among its related pathways/superpathways are Disorders of transmembrane transporters and Proximal tubule transport. Affiliated tissues include breast and thyroid, and related phenotypes are dehydration and metabolic acidosis

Disease Ontology: 11 A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has material basis in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3.

Orphanet: 58 Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.

OMIM®: 57 Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. (223000) (Updated 08-Dec-2022)

Related Diseases for Lactase Deficiency, Congenital

Diseases related to Lactase Deficiency, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 lactose intolerance 30.0 SLC5A1 SLC2A5 MCM6 LCT GLB1
2 chylomicron retention disease 29.9 SLC5A1 LCT
3 sucrase-isomaltase deficiency, congenital 29.7 TREH SLC5A1 SLC2A5 MGAM LCT
4 diarrhea 28.7 TMPRSS15 SPINT2 SLC5A1 SLC26A3 MYO5B MGAM
5 lipase deficiency, combined 11.1
6 congenital chloride diarrhea 11.0
7 diarrhea 1, secretory chloride, congenital 11.0
8 hyperlipoproteinemia, type i 10.5
9 hypolipoproteinemia 10.4
10 ceroid lipofuscinosis, neuronal, 5 10.3
11 gastrointestinal system disease 10.3
12 familial hyperlipidemia 10.3
13 liver disease 10.2
14 lung disease 10.2
15 hepatic encephalopathy 10.2
16 familial lipoprotein lipase deficiency 10.2
17 lactose intolerance, adult type 10.2 MCM6 LCT
18 metabolic acidosis 10.1
19 nephrocalcinosis 10.1
20 biliary atresia, extrahepatic 10.1
21 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1
22 crigler-najjar syndrome, type i 10.1
23 wilson disease 10.1
24 portal hypertension 10.1
25 portal vein thrombosis 10.1
26 hepatorenal syndrome 10.1
27 biliary atresia 10.1
28 peritonitis 10.1
29 hepatopulmonary syndrome 10.1
30 cholangitis 10.1
31 encephalopathy 10.1
32 pulmonary arterial hypertension associated with portal hypertension 10.1
33 nutritional deficiency disease 10.0
34 cataract 10.0
35 hypertriglyceridemia 1 10.0
36 alcoholic liver cirrhosis 10.0
37 glucose/galactose malabsorption 10.0
38 disorder of galactose metabolism 10.0
39 diabetes mellitus, ketosis-prone 10.0 SLC5A1 MGAM
40 renal glucosuria 10.0 SLC5A1 SLC2A2
41 covid-19 10.0
42 severe acute respiratory syndrome 10.0
43 viral infectious disease 10.0
44 fructosuria, essential 10.0 SLC2A5 SLC2A2
45 krabbe disease 9.9 MGAM GLB1
46 diarrhea 4, malabsorptive, congenital 9.9 SPINT2 MYO5B
47 alcohol dependence 9.9
48 rhabdomyosarcoma 2 9.9
49 pendred syndrome 9.9
50 hepatitis c virus 9.9

Graphical network of the top 20 diseases related to Lactase Deficiency, Congenital:



Diseases related to Lactase Deficiency, Congenital

Symptoms & Phenotypes for Lactase Deficiency, Congenital

Human phenotypes related to Lactase Deficiency, Congenital:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dehydration 30 HP:0001944
2 metabolic acidosis 30 HP:0001942
3 diarrhea 30 HP:0002014
4 lactose intolerance 30 HP:0004789
5 decreased small intestinal mucosa lactase level 30 HP:0025130

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Metabolic Features:
dehydration
metabolic acidosis

Laboratory Abnormalities:
decreased-absent intestinal mucosa lactase activity
normal maltase, isomaltase, and sucrase activity

Abdomen Gastrointestinal:
neonatal diarrhea

Clinical features from OMIM®:

223000 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lactase Deficiency, Congenital:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.32 GLB1 MCM6 MYO5B RPS21 SLC26A3 SLC2A2

Drugs & Therapeutics for Lactase Deficiency, Congenital

Search Clinical Trials, NIH Clinical Center for Lactase Deficiency, Congenital

Cochrane evidence based reviews: lactase deficiency, congenital

Genetic Tests for Lactase Deficiency, Congenital

Genetic tests related to Lactase Deficiency, Congenital:

# Genetic test Affiliating Genes
1 Congenital Lactase Deficiency 28 LCT

Anatomical Context for Lactase Deficiency, Congenital

Organs/tissues related to Lactase Deficiency, Congenital:

MalaCards : Breast, Thyroid

Publications for Lactase Deficiency, Congenital

Articles related to Lactase Deficiency, Congenital:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. 53 62 57 5
16400612 2006
2
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. 62 57
9758622 1998
3
Congenital lactase deficiency. A clinical study on 16 patients. 62 57
6847226 1983
4
Congenital lactose intolerance of gastrogen origin associated with cataracts. 62 57
4209121 1974
5
Congenital lactose malabsorption. 62 57
5419986 1970
6
Identification of a variant associated with adult-type hypolactasia. 57
11788828 2002
7
High frequency of lactose absorbers among adults with idiopathic senile and presenile cataract in a population with a high prevalence of primary adult lactose malabsorption. 57
6141422 1984
8
Severe lactose intolerance with lactosuria and vomiting. 57
7416780 1980
9
Lactose intolerance associated with cataracts. 57
759181 1979
10
Severe familial lactose intolerance--a gastrogen disorder? 57
5365173 1969
11
Specificity of the human intestinal disaccharidases and implications for hereditary disaccharide intolerance. 57
13883118 1962
12
Lactosuria and amino-aciduria in infancy. A new inborn error of metabolism? 57
13814131 1960
13
Defective lactose absorption causing malnutrition in infancy. 57
13665980 1959
14
[Idiopathic lactosuria in a patient of chronic diarrhea and acidosis]. 57
13565838 1958
15
[Congenital lactase deficiency--a more common disease than previously thought?]. 53 62
19432082 2009
16
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). 53 62
19161632 2009
17
Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia. 53 62
17345962 2007
18
Sequence, structural, functional, and phylogenetic analyses of three glycosidase families. 53 62
9779294 1998
19
Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD. 62
36167617 2022
20
Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive. 62
35007711 2022
21
The Impact of Charlson Comorbidity Index on Mortality From SARS-CoV-2 Virus Infection. 62
34976530 2021
22
A Novel Prediction Model of COVID-19 Progression: A Retrospective Cohort Study. 62
34128189 2021
23
The impact of charlson comorbidity index on mortality from SARS-CoV-2 virus infection and A novel COVID-19 mortality index: CoLACD. 62
33237615 2021
24
Human Health Effects of Lactose Consumption as a Food and Drug Ingredient. 62
32048961 2020
25
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives. 62
30813293 2019
26
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe. 62
26215149 2015
27
[Congenital lactase deficiency: Identification of a new mutation]. 62
25468453 2015
28
Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene. 62
25881162 2015
29
Lactose intolerance. 62
26715083 2015
30
Association between celiac disease and primary lactase deficiency. 62
23211657 2012
31
Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency. 62
22688420 2012
32
Selected disorders of malabsorption. 62
21872088 2011
33
Soy infant formula: is it that bad? 62
20860705 2011
34
Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency. 62
19208354 2009
35
Infant formula. 62
19378873 2009
36
Molecular genetics of human lactase deficiencies. 62
19639477 2009
37
Lactose malabsorption. 62
21063860 2008
38
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. 62
17666782 2007
39
Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies. 62
12394387 2002
40
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. 62
12014995 2002
41
[Intestinal microbiocenosis in children with intestinal enzymopathy]. 62
11550576 2001
42
Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase. 62
11332711 2001
43
Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency. 62
8523189 1995
44
Clinical picture of hypolactasia and lactose intolerance. 62
8042017 1994
45
Clinical significance of enzymatic deficiencies in the gastrointestinal tract with particular reference to lactase deficiency. 62
6439079 1984
46
Use of lactose-hydrolyzed human milk in congenital lactase deficiency. 62
7119963 1982
47
Morphometric study of the jejunal mucosa in various childhood enteropathies with special reference to intraepithelial lymphocytes. 62
7186067 1982
48
Protein patterns of brush-border fragments in congenital lactose malabsorption and in specific hypolactasia of the adult. 62
1256511 1976
49
Thyrotoxicosis in a neonate of a mother with no history of thyroid disease. 62
1275545 1976
50
[Hereditary congenital lactose malabsorption]. 62
1145887 1975

Variations for Lactase Deficiency, Congenital

ClinVar genetic disease variations for Lactase Deficiency, Congenital:

5 (show top 50) (show all 125)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LCT NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter) SNV Pathogenic
6586 rs121908936 GRCh37: 2:136564701-136564701
GRCh38: 2:135807131-135807131
2 LCT NM_002299.4(LCT):c.804G>C (p.Gln268His) SNV Pathogenic
6588 rs121908937 GRCh37: 2:136587163-136587163
GRCh38: 2:135829593-135829593
3 LCT NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) DEL Pathogenic/Likely Pathogenic
56391 rs386833836 GRCh37: 2:136552321-136552324
GRCh38: 2:135794751-135794754
4 LCT NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg) SNV Likely Pathogenic
982390 rs1312031160 GRCh37: 2:136555625-136555625
GRCh38: 2:135798055-135798055
5 LCT NM_002299.4(LCT):c.1692_1696del (p.Val565fs) DEL Likely Pathogenic
56387 rs386833832 GRCh37: 2:136574922-136574926
GRCh38: 2:135817352-135817356
6 LCT NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) SNV Likely Pathogenic
56388 rs386833833 GRCh37: 2:136564784-136564784
GRCh38: 2:135807214-135807214
7 LCT NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) SNV Likely Pathogenic
56389 rs386833834 GRCh37: 2:136562382-136562382
GRCh38: 2:135804812-135804812
8 LCT NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter) SNV Likely Pathogenic
56390 rs386833835 GRCh37: 2:136558209-136558209
GRCh38: 2:135800639-135800639
9 LCT NM_002299.4(LCT):c.5387del (p.Asp1796fs) DEL Likely Pathogenic
56392 rs386833837 GRCh37: 2:136547317-136547317
GRCh38: 2:135789747-135789747
10 LCT NM_002299.4(LCT):c.653_654del (p.Ser218fs) MICROSAT Likely Pathogenic
56393 rs386833838 GRCh37: 2:136590747-136590748
GRCh38: 2:135833177-135833178
11 LCT NM_002299.4(LCT):c.3986C>T (p.Thr1329Met) SNV Uncertain Significance
331181 rs555708380 GRCh37: 2:136564885-136564885
GRCh38: 2:135807315-135807315
12 LCT NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) SNV Uncertain Significance
331203 rs377102890 GRCh37: 2:136575222-136575222
GRCh38: 2:135817652-135817652
13 LCT NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) SNV Uncertain Significance
331163 rs376732886 GRCh37: 2:136546022-136546022
GRCh38: 2:135788452-135788452
14 LCT NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) SNV Uncertain Significance
331184 rs148317168 GRCh37: 2:136566318-136566318
GRCh38: 2:135808748-135808748
15 LCT NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr) SNV Uncertain Significance
331189 rs146467199 GRCh37: 2:136566631-136566631
GRCh38: 2:135809061-135809061
16 LCT NM_002299.4(LCT):c.4239A>G (p.Pro1413=) SNV Uncertain Significance
331177 rs752925060 GRCh37: 2:136562562-136562562
GRCh38: 2:135804992-135804992
17 LCT NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) SNV Uncertain Significance
331199 rs886054867 GRCh37: 2:136570454-136570454
GRCh38: 2:135812884-135812884
18 LCT NM_002299.4(LCT):c.3848C>T (p.Thr1283Met) SNV Uncertain Significance
331182 rs147755711 GRCh37: 2:136566069-136566069
GRCh38: 2:135808499-135808499
19 LCT NM_002299.4(LCT):c.5529C>T (p.Pro1843=) SNV Uncertain Significance
331165 rs761696901 GRCh37: 2:136547175-136547175
GRCh38: 2:135789605-135789605
20 LCT NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) SNV Uncertain Significance
331205 rs886054868 GRCh37: 2:136575573-136575573
GRCh38: 2:135818003-135818003
21 LCT NM_002299.4(LCT):c.621C>T (p.His207=) SNV Uncertain Significance
331209 rs369174474 GRCh37: 2:136594119-136594119
GRCh38: 2:135836549-135836549
22 LCT NM_002299.4(LCT):c.643G>A (p.Gly215Arg) SNV Uncertain Significance
331208 rs886054869 GRCh37: 2:136590758-136590758
GRCh38: 2:135833188-135833188
23 LCT NM_002299.4(LCT):c.319G>A (p.Glu107Lys) SNV Uncertain Significance
331212 rs761296720 GRCh37: 2:136594421-136594421
GRCh38: 2:135836851-135836851
24 LCT NM_002299.4(LCT):c.5771T>C (p.Val1924Ala) SNV Uncertain Significance
331161 rs886054861 GRCh37: 2:136545907-136545907
GRCh38: 2:135788337-135788337
25 LCT NM_002299.4(LCT):c.54G>C (p.Trp18Cys) SNV Uncertain Significance
331214 rs886054870 GRCh37: 2:136594686-136594686
GRCh38: 2:135837116-135837116
26 LCT NM_002299.4(LCT):c.2177G>A (p.Arg726His) SNV Uncertain Significance
331197 rs886054866 GRCh37: 2:136570057-136570057
GRCh38: 2:135812487-135812487
27 LCT NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr) SNV Uncertain Significance
331185 rs886054863 GRCh37: 2:136566322-136566322
GRCh38: 2:135808752-135808752
28 LCT NM_002299.4(LCT):c.4434T>C (p.Asp1478=) SNV Uncertain Significance
331174 rs778761405 GRCh37: 2:136562367-136562367
GRCh38: 2:135804797-135804797
29 LCT NM_002299.4(LCT):c.*251G>A SNV Uncertain Significance
331157 rs886054860 GRCh37: 2:136545643-136545643
GRCh38: 2:135788073-135788073
30 LCT NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) SNV Uncertain Significance
331170 rs886054862 GRCh37: 2:136558348-136558348
GRCh38: 2:135800778-135800778
31 LCT NM_002299.4(LCT):c.*10A>C SNV Uncertain Significance
331160 rs200994158 GRCh37: 2:136545884-136545884
GRCh38: 2:135788314-135788314
32 LCT NM_002299.4(LCT):c.*230T>C SNV Uncertain Significance
331158 rs749324196 GRCh37: 2:136545664-136545664
GRCh38: 2:135788094-135788094
33 LCT NM_002299.4(LCT):c.4760G>A (p.Arg1587His) SNV Uncertain Significance
631827 rs146614143 GRCh37: 2:136558283-136558283
GRCh38: 2:135800713-135800713
34 LCT NM_002299.4(LCT):c.5391T>C (p.Asn1797=) SNV Uncertain Significance
892984 rs145827881 GRCh37: 2:136547313-136547313
GRCh38: 2:135789743-135789743
35 LCT NM_002299.4(LCT):c.5335+5G>A SNV Uncertain Significance
892985 rs747065034 GRCh37: 2:136548223-136548223
GRCh38: 2:135790653-135790653
36 LCT NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala) SNV Uncertain Significance
893033 rs138785223 GRCh37: 2:136566262-136566262
GRCh38: 2:135808692-135808692
37 LCT NM_002299.4(LCT):c.3450C>T (p.Ser1150=) SNV Uncertain Significance
893035 rs777067647 GRCh37: 2:136566467-136566467
GRCh38: 2:135808897-135808897
38 LCT NM_002299.4(LCT):c.1116G>A (p.Ala372=) SNV Uncertain Significance
893077 rs200277615 GRCh37: 2:136575502-136575502
GRCh38: 2:135817932-135817932
39 LCT NM_002299.4(LCT):c.4664-10A>G SNV Uncertain Significance
893215 rs1575334525 GRCh37: 2:136558389-136558389
GRCh38: 2:135800819-135800819
40 LCT NM_002299.4(LCT):c.2983C>T (p.His995Tyr) SNV Uncertain Significance
893249 rs1261476069 GRCh37: 2:136566934-136566934
GRCh38: 2:135809364-135809364
41 LCT NM_002299.4(LCT):c.2969G>T (p.Ser990Ile) SNV Uncertain Significance
893250 rs201881537 GRCh37: 2:136566948-136566948
GRCh38: 2:135809378-135809378
42 LCT NM_002299.4(LCT):c.1004C>G (p.Thr335Ser) SNV Uncertain Significance
893283 rs1428765941 GRCh37: 2:136575614-136575614
GRCh38: 2:135818044-135818044
43 LCT NM_002299.4(LCT):c.725C>T (p.Thr242Met) SNV Uncertain Significance
893285 rs757179373 GRCh37: 2:136587242-136587242
GRCh38: 2:135829672-135829672
44 LCT NM_002299.4(LCT):c.677T>C (p.Ile226Thr) SNV Uncertain Significance
893286 rs747805112 GRCh37: 2:136590724-136590724
GRCh38: 2:135833154-135833154
45 LCT NM_002299.4(LCT):c.*275A>G SNV Uncertain Significance
894022 rs1008625417 GRCh37: 2:136545619-136545619
GRCh38: 2:135788049-135788049
46 LCT NM_002299.4(LCT):c.*239C>T SNV Uncertain Significance
894023 rs16832012 GRCh37: 2:136545655-136545655
GRCh38: 2:135788085-135788085
47 LCT NM_002299.4(LCT):c.5723G>A (p.Arg1908His) SNV Uncertain Significance
1032814 rs577825311 GRCh37: 2:136545955-136545955
GRCh38: 2:135788385-135788385
48 LCT NM_002299.4(LCT):c.4576C>T (p.Leu1526=) SNV Uncertain Significance
331173 rs140074771 GRCh37: 2:136561587-136561587
GRCh38: 2:135804017-135804017
49 LCT NM_002299.4(LCT):c.3759G>A (p.Thr1253=) SNV Uncertain Significance
331183 rs764860323 GRCh37: 2:136566158-136566158
GRCh38: 2:135808588-135808588
50 LCT NM_002299.4(LCT):c.*193C>T SNV Uncertain Significance
894025 rs1189424123 GRCh37: 2:136545701-136545701
GRCh38: 2:135788131-135788131

UniProtKB/Swiss-Prot genetic disease variations for Lactase Deficiency, Congenital:

73
# Symbol AA change Variation ID SNP ID
1 LCT p.Gln268His VAR_026706 rs121908937
2 LCT p.Gly1363Ser VAR_026708 rs386833833

Expression for Lactase Deficiency, Congenital

Search GEO for disease gene expression data for Lactase Deficiency, Congenital.

Pathways for Lactase Deficiency, Congenital

Pathways related to Lactase Deficiency, Congenital according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.94 SLC5A1 SLC2A2 SLC26A3
2 11.19 SLC5A1 SLC2A2
3 11.14 SLC2A5 SLC2A2
4
Show member pathways
11.1 LCT GLB1
5
Show member pathways
11 TREH SLC5A1 SLC2A5 SLC2A2 MGAM LCT
6
Show member pathways
10.81 SLC5A1 SLC2A2
7
Show member pathways
10.52 SLC5A1 SLC2A2
8
Show member pathways
10.21 SLC5A1 SLC2A2

GO Terms for Lactase Deficiency, Congenital

Cellular components related to Lactase Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.36 SLC5A1 SLC2A5 SLC2A2 SLC26A3 MGAM LCT

Biological processes related to Lactase Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monosaccharide transmembrane transport GO:0015749 9.73 SLC2A5 SLC2A2
2 fructose transmembrane transport GO:0015755 9.71 SLC2A5 SLC2A2
3 galactose transmembrane transport GO:0015757 9.67 SLC5A1 SLC2A2
4 metabolic process GO:0008152 9.56 TREH MGAM LCT GLB1
5 carbohydrate transport GO:0008643 9.5 SLC5A1 SLC2A5 SLC2A2
6 intestinal hexose absorption GO:0106001 9.46 SLC5A1 SLC2A5
7 glucose transmembrane transport GO:1904659 9.43 SLC5A1 SLC2A5 SLC2A2
8 carbohydrate metabolic process GO:0005975 9.23 TREH SLC2A5 SLC2A2 MGAM LCT GLB1

Molecular functions related to Lactase Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 TREH TMPRSS15 MGAM MCM6 LCT GLB1
2 D-glucose transmembrane transporter activity GO:0055056 9.71 SLC5A1 SLC2A2
3 hexose transmembrane transporter activity GO:0015149 9.67 SLC2A5 SLC2A2
4 fructose transmembrane transporter activity GO:0005353 9.62 SLC2A5 SLC2A2
5 galactose transmembrane transporter activity GO:0005354 9.56 SLC5A1 SLC2A2
6 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.46 MGAM LCT GLB1
7 glucose transmembrane transporter activity GO:0005355 9.43 SLC5A1 SLC2A5 SLC2A2
8 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 TREH MGAM LCT GLB1

Sources for Lactase Deficiency, Congenital

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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