MCID: LCT013
MIFTS: 22

Lactase Deficiency, Congenital malady

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

Aliases & Classifications for Lactase Deficiency, Congenital

About this section
Sources:
12diseasecard, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Lactase Deficiency, Congenital:

Name: Lactase Deficiency, Congenital 52 12 50 68
Congenital Lactase Deficiency 48 24 54 70 27
Disaccharide Intolerance Ii 70
 
Hereditary Alactasia 70
Colacd 70

Characteristics:

Orphanet epidemiological data:

54
congenital lactase deficiency:
Inheritance: Autosomal recessive

HPO:

64
lactase deficiency, congenital:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 223000
Orphanet54 ORPHA53690
UMLS via Orphanet69 C0268179
ICD10 via Orphanet31 E73.0
MedGen37 C0268179
ICD1030 E73.0

Summaries for Lactase Deficiency, Congenital

About this section
UniProtKB/Swiss-Prot:70 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:52 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:

idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis9.8

Symptoms & Phenotypes for Lactase Deficiency, Congenital

About this section

Symptoms by clinical synopsis from OMIM:

223000

Clinical features from OMIM:

223000

Human phenotypes related to Lactase Deficiency, Congenital:

 64
id Description HPO Frequency HPO Source Accession
1 metabolic acidosis64 HP:0001942
2 dehydration64 HP:0001944
3 diarrhea64 HP:0002014
4 lactose intolerance64 HP:0004789

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
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

About this section

Genetic tests related to Lactase Deficiency, Congenital:

id Genetic test Affiliating Genes
1 Congenital Lactase Deficiency27 24 LCT

Anatomical Context for Lactase Deficiency, Congenital

About this section

MalaCards organs/tissues related to Lactase Deficiency, Congenital:

36
Breast, Colon

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:

70
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

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet