MCID: LCT013
MIFTS: 22

Lactase Deficiency, Congenital malady

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

Aliases & Classifications for Lactase Deficiency, Congenital

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Sources:
12diseasecard, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Lactase Deficiency, Congenital:

Name: Lactase Deficiency, Congenital 51 12 49 67
Congenital Lactase Deficiency 47 24 53 69 26
Disaccharide Intolerance Ii 69
 
Hereditary Alactasia 69
Colacd 69

Characteristics:

Orphanet epidemiological data:

53
congenital lactase deficiency:
Inheritance: Autosomal recessive

HPO:

63
lactase deficiency, congenital:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 223000
Orphanet53 ORPHA53690
UMLS via Orphanet68 C0268179
ICD10 via Orphanet30 E73.0
MedGen36 C0268179
ICD1029 E73.0

Summaries for Lactase Deficiency, Congenital

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UniProtKB/Swiss-Prot:69 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 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:51 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
1nephrocalcinosis9.8

Symptoms for Lactase Deficiency, Congenital

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Symptoms by clinical synopsis from OMIM:

223000

Clinical features from OMIM:

223000

Human phenotypes related to Lactase Deficiency, Congenital:

 63
id Description HPO Frequency HPO Source Accession
1 metabolic acidosis63 HP:0001942
2 dehydration63 HP:0001944
3 diarrhea63 HP:0002014
4 lactose intolerance63 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
1ColaNutraceutical1881

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 Deficiency26 24 LCT

Anatomical Context for Lactase Deficiency, Congenital

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MalaCards organs/tissues related to Lactase Deficiency, Congenital:

35
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:

69
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)SNVLikely pathogenicrs386833833GRCh37Chr 2, 136564784: 136564784
3LCTNM_002299.3(LCT): c.4419C> G (p.Tyr1473Ter)SNVLikely pathogenicrs386833834GRCh37Chr 2, 136562382: 136562382
4LCTNM_002299.3(LCT): c.4834G> T (p.Glu1612Ter)SNVLikely 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)SNVPathogenicrs121908936GRCh37Chr 2, 136564701: 136564701
9LCTLCT, 4-BP DEL, NT4998deletionPathogenicChr na, -1: -1
10LCTNM_002299.3(LCT): c.804G> C (p.Gln268His)SNVPathogenicrs121908937GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet