MCID: CNG155
MIFTS: 25

Congenital Lactase Deficiency malady

Genetic diseases, Metabolic diseases, Gastrointestinal diseases, Rare diseases categories
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Summaries for Congenital Lactase Deficiency

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MalaCards based summary: Congenital Lactase Deficiency, also known as lactase deficiency, congenital, is related to hypercalcemia and nephrocalcinosis, and has symptoms including An important gene associated with Congenital Lactase Deficiency is LCT (lactase). Affiliated tissues include breast.

Description from OMIM:46 223000

Aliases & Classifications for Congenital Lactase Deficiency

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Sources:
20GeneTests, 22GTR, 48Orphanet, 62UMLS, 46OMIM, 44Novoseek, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Congenital Lactase Deficiency, Aliases & Descriptions:

Name: Congenital Lactase Deficiency 20 22 48 62
 
Lactase Deficiency, Congenital 46 44


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital lactase deficiency:
Inheritance: Autosomal recessive


External Ids:

OMIM46 223000
ICD10 via Orphanet26 E73.0
UMLS via Orphanet63 C0268179
ICD1025 E73.0

Related Diseases for Congenital Lactase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia10.2
2nephrocalcinosis10.2
3lactose intolerance10.2

Symptoms for Congenital Lactase Deficiency

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Symptoms by clinical synopsis from OMIM:

223000

Clinical features from OMIM:

223000

HPO human phenotypes related to Congenital Lactase Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 metabolic acidosis HP:0001942
3 dehydration HP:0001944
4 diarrhea HP:0002014
5 lactose intolerance HP:0004789

Drugs & Therapeutics for Congenital Lactase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Congenital Lactase Deficiency

Search NIH Clinical Center for Congenital Lactase Deficiency

Genetic Tests for Congenital Lactase Deficiency

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Genetic tests related to Congenital Lactase Deficiency:

id Genetic test Affiliating Genes
1 Congenital Lactase Deficiency20 22 LCT

Anatomical Context for Congenital Lactase Deficiency

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MalaCards organs/tissues related to Congenital Lactase Deficiency:

32
Breast

Animal Models for Congenital Lactase Deficiency or affiliated genes

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Publications for Congenital Lactase Deficiency

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Articles related to Congenital Lactase Deficiency:

(show all 12)
idTitleAuthorsYear
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 Congenital Lactase Deficiency

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

64
id Symbol AA change Variation ID SNP ID
1LCTp.Gln268HisVAR_026706
2LCTp.Gly1363SerVAR_026708

Clinvar genetic disease variations for Congenital Lactase Deficiency:

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

Expression for genes affiliated with Congenital Lactase Deficiency

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Expression patterns in normal tissues for genes affiliated with Congenital Lactase Deficiency

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

Pathways for genes affiliated with Congenital Lactase Deficiency

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Compounds for genes affiliated with Congenital Lactase Deficiency

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GO Terms for genes affiliated with Congenital Lactase Deficiency

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Products for genes affiliated with Congenital Lactase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Lactase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet