MCID: LCT013
MIFTS: 25

Lactase Deficiency, Congenital malady

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

Aliases & Classifications for Lactase Deficiency, Congenital

About this section
Sources:
49OMIM, 11diseasecard, 47Novoseek, 65UMLS, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Lactase Deficiency, Congenital:

Name: Lactase Deficiency, Congenital 49 11 47 65
Congenital Lactase Deficiency 45 22 51 67 24
Disaccharide Intolerance Ii 67
 
Hereditary Alactasia 67
Colacd 67

Characteristics:

Orphanet epidemiological data:

51
congenital lactase deficiency:
Inheritance: Autosomal recessive

HPO:

61
lactase deficiency, congenital:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 223000
Orphanet51 53690
ICD10 via Orphanet28 E73.0
UMLS via Orphanet66 C0268179
MedGen34 C0268179
ICD1027 E73.0
UMLS65 C0268179

Summaries for Lactase Deficiency, Congenital

About this section
UniProtKB/Swiss-Prot:67 Congenital lactase deficiency: 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 schizophrenia and hepatocellular carcinoma, and has symptoms including lactose intolerance, diarrhea and dehydration. An important gene associated with Lactase Deficiency, Congenital is LCT (Lactase). Affiliated tissues include breast and colon.

OMIM:49 Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed... (223000) more...

Related Diseases for Lactase Deficiency, Congenital

About this section

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1schizophrenia10.1
2hepatocellular carcinoma10.1
3inhalation anthrax10.1
4adenocarcinoma10.1
5gingivitis10.1
6mood disorder10.1
7periodontal disease10.1
8pituitary adenoma10.1
9apocrine adenocarcinoma10.1
10aortic disease10.1
11adenoma10.1
12periodontitis10.1

Graphical network of diseases related to Lactase Deficiency, Congenital:



Diseases related to lactase deficiency, congenital

Symptoms for Lactase Deficiency, Congenital

About this section

Symptoms by clinical synopsis from OMIM:

223000

Clinical features from OMIM:

223000

HPO human phenotypes related to Lactase Deficiency, Congenital:

id Description Frequency HPO Source Accession
1 lactose intolerance HP:0004789
2 diarrhea HP:0002014
3 dehydration HP:0001944
4 metabolic acidosis HP:0001942

Drugs & Therapeutics for Lactase Deficiency, Congenital

About this section

Drugs for Lactase Deficiency, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1ColaNutraceutical1768

Interventional clinical trials:

idNameStatusNCT IDPhase
1Comparison of the Colonic Metabolism in Patients With Lactose Intolerance and Healthy ControlsCompletedNCT02171403

Search NIH Clinical Center for Lactase Deficiency, Congenital

Genetic Tests for Lactase Deficiency, Congenital

About this section

Genetic tests related to Lactase Deficiency, Congenital:

id Genetic test Affiliating Genes
1 Congenital Lactase Deficiency22 LCT

Anatomical Context for Lactase Deficiency, Congenital

About this section

MalaCards organs/tissues related to Lactase Deficiency, Congenital:

33
Breast, Colon

Animal Models for Lactase Deficiency, Congenital or affiliated genes

About this section

Publications for Lactase Deficiency, Congenital

About this section

Variations for Lactase Deficiency, Congenital

About this section

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

67
id Symbol AA change Variation ID SNP ID
1LCTp.Gln268HisVAR_026706
2LCTp.Gly1363SerVAR_026708

Clinvar genetic disease variations for Lactase Deficiency, Congenital:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LCTNM_002299.2(LCT): c.1692_1696delAGTGG (p.Val565Leufs)deletionLikely pathogenicrs386833832GRCh37Chr 2, 136574922: 136574926
2LCTNM_002299.2(LCT): c.4087G> A (p.Gly1363Ser)single nucleotide variantLikely pathogenicrs386833833GRCh37Chr 2, 136564784: 136564784
3LCTNM_002299.2(LCT): c.4419C> G (p.Tyr1473Ter)single nucleotide variantLikely pathogenicrs386833834GRCh37Chr 2, 136562382: 136562382
4LCTNM_002299.2(LCT): c.4834G> T (p.Glu1612Ter)single nucleotide variantLikely pathogenicrs386833835GRCh37Chr 2, 136558209: 136558209
5LCTNM_002299.2(LCT): c.4998_5001delTGAG (p.Ser1666Argfs)deletionLikely pathogenicrs386833836GRCh37Chr 2, 136552321: 136552324
6LCTNM_002299.2(LCT): c.5387delA (p.Asp1796Alafs)deletionLikely pathogenicrs386833837GRCh37Chr 2, 136547317: 136547317
7LCTNM_002299.2(LCT): c.653_654delCT (p.Ser218Cysfs)deletionLikely pathogenicrs386833838GRCh37Chr 2, 136590747: 136590748
8LCTNM_002299.2(LCT): c.4170T> A (p.Tyr1390Ter)single nucleotide variantPathogenicrs121908936GRCh37Chr 2, 136564701: 136564701
9LCTLCT, 4-BP DEL, NT4998deletionPathogenic
10LCTNM_002299.2(LCT): c.804G> C (p.Gln268His)single nucleotide variantPathogenicrs121908937GRCh37Chr 2, 136587163: 136587163

Expression for genes affiliated with Lactase Deficiency, Congenital

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

Pathways for genes affiliated with Lactase Deficiency, Congenital

About this section

GO Terms for genes affiliated with Lactase Deficiency, Congenital

About this section

Sources for Lactase Deficiency, Congenital

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet