COLACD
MCID: LCT013
MIFTS: 22

Lactase Deficiency, Congenital (COLACD) malady

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

Aliases & Classifications for Lactase Deficiency, Congenital

Aliases & Descriptions for Lactase Deficiency, Congenital:

Name: Lactase Deficiency, Congenital 54 13 52 69
Congenital Lactase Deficiency 50 24 56 66 29
Disaccharide Intolerance Ii 66
Hereditary Alactasia 66
Colacd 66

Characteristics:

Orphanet epidemiological data:

56
congenital lactase deficiency
Inheritance: Autosomal recessive;

HPO:

32
lactase deficiency, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 223000
Orphanet 56 ORPHA53690
UMLS via Orphanet 70 C0268179
ICD10 via Orphanet 34 E73.0
MedGen 40 C0268179
ICD10 33 E73.0

Summaries for Lactase Deficiency, Congenital

UniProtKB/Swiss-Prot : 66 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 diarrhea, dehydration and metabolic acidosis. An important gene associated with Lactase Deficiency, Congenital is LCT (Lactase). The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include breast.

OMIM : 54 Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed... (223000) more...

Related Diseases for Lactase Deficiency, Congenital

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

id Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 9.8

Symptoms & Phenotypes for Lactase Deficiency, Congenital

Symptoms by clinical synopsis from OMIM:

223000

Clinical features from OMIM:

223000

Human phenotypes related to Lactase Deficiency, Congenital:

32
id Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 dehydration 32 HP:0001944
3 metabolic acidosis 32 HP:0001942
4 lactose intolerance 32 HP:0004789

Drugs & Therapeutics for Lactase Deficiency, Congenital

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Comparison of the Colonic Metabolism in Patients With Lactose Intolerance and Healthy Controls Completed NCT02171403

Search NIH Clinical Center for Lactase Deficiency, Congenital

Genetic Tests for Lactase Deficiency, Congenital

Genetic tests related to Lactase Deficiency, Congenital:

id Genetic test Affiliating Genes
1 Congenital Lactase Deficiency 29 24 LCT

Anatomical Context for Lactase Deficiency, Congenital

MalaCards organs/tissues related to Lactase Deficiency, Congenital:

39
Breast

Publications for Lactase Deficiency, Congenital

Variations for Lactase Deficiency, Congenital

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 LCT NM_002299.3(LCT): c.4170T> A (p.Tyr1390Ter) single nucleotide variant Pathogenic rs121908936 GRCh37 Chromosome 2, 136564701: 136564701
2 LCT LCT, 4-BP DEL, NT4998 deletion Pathogenic
3 LCT NM_002299.3(LCT): c.804G> C (p.Gln268His) single nucleotide variant Pathogenic rs121908937 GRCh37 Chromosome 2, 136587163: 136587163
4 LCT NM_002299.3(LCT): c.1692_1696delAGTGG (p.Val565Leufs) deletion Likely pathogenic rs386833832 GRCh37 Chromosome 2, 136574922: 136574926
5 LCT NM_002299.3(LCT): c.4087G> A (p.Gly1363Ser) single nucleotide variant Likely pathogenic rs386833833 GRCh37 Chromosome 2, 136564784: 136564784
6 LCT NM_002299.3(LCT): c.4419C> G (p.Tyr1473Ter) single nucleotide variant Likely pathogenic rs386833834 GRCh37 Chromosome 2, 136562382: 136562382
7 LCT NM_002299.3(LCT): c.4834G> T (p.Glu1612Ter) single nucleotide variant Likely pathogenic rs386833835 GRCh37 Chromosome 2, 136558209: 136558209
8 LCT NM_002299.3(LCT): c.4998_5001delTGAG (p.Ser1666Argfs) deletion Likely pathogenic rs386833836 GRCh37 Chromosome 2, 136552321: 136552324
9 LCT NM_002299.3(LCT): c.5387delA (p.Asp1796Alafs) deletion Likely pathogenic rs386833837 GRCh37 Chromosome 2, 136547317: 136547317
10 LCT NM_002299.3(LCT): c.653_654delCT (p.Ser218Cysfs) deletion Likely pathogenic rs386833838 GRCh37 Chromosome 2, 136590747: 136590748

Expression for Lactase Deficiency, Congenital

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

Pathways for Lactase Deficiency, Congenital

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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