MCID: LCT013
MIFTS: 26

Lactase Deficiency, Congenital

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

Aliases & Classifications for Lactase Deficiency, Congenital

MalaCards integrated aliases for Lactase Deficiency, Congenital:

Name: Lactase Deficiency, Congenital 53 13 51 69
Congenital Lactase Deficiency 49 55 71 36 28
Disaccharide Intolerance Ii 53 71
Alactasia, Congenital 53
Hereditary Alactasia 71
Colacd 71

Characteristics:

Orphanet epidemiological data:

55
congenital lactase deficiency
Inheritance: Autosomal recessive;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
lactase deficiency, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 223000
Orphanet 55 ORPHA53690
UMLS via Orphanet 70 C0268179
ICD10 via Orphanet 33 E73.0
MedGen 39 C0268179
KEGG 36 H00116
ICD10 32 E73.0
UMLS 69 C0268179

Summaries for Lactase Deficiency, Congenital

UniProtKB/Swiss-Prot : 71 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 hypercalcemia, infantile, 1, and has symptoms including metabolic acidosis, dehydration and diarrhea. An important gene associated with Lactase Deficiency, Congenital is LCT (Lactase), and among its related pathways/superpathways is Galactose metabolism. Affiliated tissues include breast and small intestine.

OMIM : 53 Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. (223000)

Related Diseases for Lactase Deficiency, Congenital

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

# Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 9.8
2 hypercalcemia, infantile, 1 9.8

Symptoms & Phenotypes for Lactase Deficiency, Congenital

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
neonatal diarrhea

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

Metabolic Features:
dehydration
metabolic acidosis


Clinical features from OMIM:

223000

Human phenotypes related to Lactase Deficiency, Congenital:

31
# Description HPO Frequency HPO Source Accession
1 metabolic acidosis 31 HP:0001942
2 dehydration 31 HP:0001944
3 diarrhea 31 HP:0002014
4 lactose intolerance 31 HP:0004789
5 decreased small intestinal mucosa lactase activity 31 HP:0025130

Drugs & Therapeutics for Lactase Deficiency, Congenital

Search Clinical Trials , NIH Clinical Center for 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

MalaCards organs/tissues related to Lactase Deficiency, Congenital:

38
Breast, Small Intestine

Publications for Lactase Deficiency, Congenital

Articles related to Lactase Deficiency, Congenital:

(show all 12)
# Title Authors Year
1
Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency. ( 22688420 )
2012
2
Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency. ( 19208354 )
2009
3
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). ( 19161632 )
2009
4
[Congenital lactase deficiency--a more common disease than previously thought?]. ( 19432082 )
2009
5
Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia. ( 17345962 )
2007
6
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. ( 16400612 )
2006
7
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. ( 9758622 )
1998
8
Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency. ( 8523189 )
1995
9
Congenital lactase deficiency. A clinical study on 16 patients. ( 6847226 )
1983
10
Use of lactose-hydrolyzed human milk in congenital lactase deficiency. ( 7119963 )
1982
11
Intestinal beta-galactosidases in adult low lactase activity and in congenital lactase deficiency. ( 4852526 )
1974
12
Congenital lactase deficiency. ( 5946649 )
1966

Variations for Lactase Deficiency, Congenital

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

71
# Symbol AA change Variation ID SNP ID
1 LCT p.Gln268His VAR_026706 rs121908937
2 LCT p.Gly1363Ser VAR_026708 rs386833833

ClinVar genetic disease variations for Lactase Deficiency, Congenital:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LCT NM_002299.3(LCT): c.1692_1696delAGTGG (p.Val565Leufs) deletion Likely pathogenic rs386833832 GRCh37 Chromosome 2, 136574922: 136574926
2 LCT NM_002299.3(LCT): c.4087G> A (p.Gly1363Ser) single nucleotide variant Likely pathogenic rs386833833 GRCh37 Chromosome 2, 136564784: 136564784
3 LCT NM_002299.3(LCT): c.4419C> G (p.Tyr1473Ter) single nucleotide variant Likely pathogenic rs386833834 GRCh37 Chromosome 2, 136562382: 136562382
4 LCT NM_002299.3(LCT): c.4834G> T (p.Glu1612Ter) single nucleotide variant Likely pathogenic rs386833835 GRCh37 Chromosome 2, 136558209: 136558209
5 LCT NM_002299.3(LCT): c.4998_5001delTGAG (p.Ser1666Argfs) deletion Likely pathogenic rs386833836 GRCh37 Chromosome 2, 136552321: 136552324
6 LCT NM_002299.3(LCT): c.5387delA (p.Asp1796Alafs) deletion Likely pathogenic rs386833837 GRCh37 Chromosome 2, 136547317: 136547317
7 LCT NM_002299.3(LCT): c.653_654delCT (p.Ser218Cysfs) deletion Likely pathogenic rs386833838 GRCh37 Chromosome 2, 136590747: 136590748
8 LCT NM_002299.3(LCT): c.4170T> A (p.Tyr1390Ter) single nucleotide variant Pathogenic rs121908936 GRCh37 Chromosome 2, 136564701: 136564701
9 LCT LCT, 4-BP DEL, NT4998 deletion Pathogenic
10 LCT NM_002299.3(LCT): c.804G> C (p.Gln268His) single nucleotide variant Pathogenic rs121908937 GRCh37 Chromosome 2, 136587163: 136587163

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 KEGG:

36
# Name Kegg Source Accession
1 Galactose metabolism hsa00052

GO Terms for Lactase Deficiency, Congenital

Sources for Lactase Deficiency, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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