MCID: CNG155
MIFTS: 24

Congenital Lactase Deficiency malady

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

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Sources:
47OMIM, 33MalaCards
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MalaCards: Congenital Lactase Deficiency, also known as lactase deficiency, congenital, is related to lactose intolerance and nephrocalcinosis. An important gene associated with Congenital Lactase Deficiency is LCT (lactase). Affiliated tissues include breast.

Description from OMIM:47 223000

Aliases & Classifications for Congenital Lactase Deficiency

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Sources:
20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Gastrointestinal diseases


Characteristics (Orphanet epidemiological data):

49
congenital lactase deficiency:
Inheritance: Autosomal recessive


Aliases & Descriptions:

congenital lactase deficiency 20 22 49 62
lactase deficiency, congenital 47 45


External Ids:

OMIM47 223000
ICD10 via Orphanet26 E73.0
SNOMED-CT via Orphanet59 5388008
UMLS via Orphanet63 C0268179
ICD1025 E73.0

Related Diseases for Congenital Lactase Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Congenital Lactase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

Symptoms for Congenital Lactase Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

223000

Clinical features from OMIM:

223000

Drugs & Therapeutics for Congenital Lactase Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Congenital Lactase Deficiency:

33
Breast

Animal Models for Congenital Lactase Deficiency or affiliated genes

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Publications for Congenital Lactase Deficiency

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52PubMed
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Articles related to Congenital Lactase Deficiency:

(show all 11)
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
Intestinal beta-galactosidases in adult low lactase activity and in congenital lactase deficiency. (4852526)
1974
11
Congenital lactase deficiency. (5946649)
1966

Variations for Congenital Lactase Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
id Gene Name Type Significance SNP ID Assembly Location
1LCTNM_002299.2(LCT): c.4170T> A (p.Tyr1390Ter)single nucleotide variantPathogenicrs121908936GRCh37Chr 2, 136564701: 136564701
2LCTLCT, 4-BP DEL, NT4998deletionPathogenic
3LCTNM_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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Congenital Lactase Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet