MCID: LCT013
MIFTS: 24

Lactase Deficiency, Congenital malady

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

Aliases & Classifications for Lactase Deficiency, Congenital

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Sources:
50OMIM, 12diseasecard, 48Novoseek, 66UMLS, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 28ICD10, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Lactase Deficiency, Congenital:

Name: Lactase Deficiency, Congenital 50 12 48 66
Congenital Lactase Deficiency 23 52 68 25
Disaccharide Intolerance Ii 68
 
Hereditary Alactasia 68
Colacd 68

Characteristics:

Orphanet epidemiological data:

52
congenital lactase deficiency:
Inheritance: Autosomal recessive

HPO:

62
lactase deficiency, congenital:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 223000
Orphanet52 ORPHA53690
ICD10 via Orphanet29 E73.0
UMLS via Orphanet67 C0268179
MedGen35 C0268179
ICD1028 E73.0

Summaries for Lactase Deficiency, Congenital

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UniProtKB/Swiss-Prot:68 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 hypercalcemia and nephrocalcinosis, and has symptoms including metabolic acidosis, dehydration and diarrhea. An important gene associated with Lactase Deficiency, Congenital is LCT (Lactase). Affiliated tissues include breast and colon.

OMIM:50 Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed... (223000) more...

Related Diseases for Lactase Deficiency, Congenital

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

idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia9.9
2nephrocalcinosis9.9
3lactase deficiency, congenital9.5LCT, POMC

Symptoms for Lactase Deficiency, Congenital

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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 metabolic acidosis HP:0001942
2 dehydration HP:0001944
3 diarrhea HP:0002014
4 lactose intolerance HP:0004789

Drugs & Therapeutics for Lactase Deficiency, Congenital

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1COLANutraceutical1824

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

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Genetic tests related to Lactase Deficiency, Congenital:

id Genetic test Affiliating Genes
1 Congenital Lactase Deficiency25 23 LCT

Anatomical Context for Lactase Deficiency, Congenital

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MalaCards organs/tissues related to Lactase Deficiency, Congenital:

34
Breast, Colon

Animal Models for Lactase Deficiency, Congenital or affiliated genes

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Publications for Lactase Deficiency, Congenital

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Variations for Lactase Deficiency, Congenital

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

68
id Symbol AA change Variation ID SNP ID
1LCTp.Gln268HisVAR_026706rs121908937
2LCTp.Gly1363SerVAR_026708rs386833833

Clinvar genetic disease variations for Lactase Deficiency, Congenital:

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

Expression for genes affiliated with Lactase Deficiency, Congenital

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

Pathways for genes affiliated with Lactase Deficiency, Congenital

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GO Terms for genes affiliated with Lactase Deficiency, Congenital

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Sources for Lactase Deficiency, Congenital

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet