MCID: CNG155
MIFTS: 21

Congenital Lactase Deficiency malady

Metabolic diseases, Gastrointestinal diseases categories

Summaries for Congenital Lactase Deficiency

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Sources:
46OMIM, 32MalaCards
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MalaCards: Congenital Lactase Deficiency, also known as lactase deficiency, congenital, is related to nephrocalcinosis and hypercalcemia. 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, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Gastrointestinal diseases


Characteristics (Orphanet epidemiological data):

48
congenital lactase deficiency:
Inheritance: Autosomal recessive


Aliases & Descriptions:

congenital lactase deficiency 20 22 48 60
lactase deficiency, congenital 46 44


External Ids:

OMIM46 223000
ICD10 via Orphanet26 E73.0
SNOMED-CT via Orphanet57 5388008
UMLS via Orphanet61 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
1nephrocalcinosis10.1
2hypercalcemia10.1

Clinical Features for Congenital Lactase Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

223000

Clinical synopsis from OMIM:

223000

Drugs & Therapeutics for Congenital Lactase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Lactase Deficiency

Drug clinical trials:

Search ClinicalTrials for Congenital Lactase Deficiency

Search NIH Clinical Center for Congenital Lactase Deficiency

Search CenterWatch for Congenital Lactase Deficiency

Genetic Tests for Congenital Lactase Deficiency

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Sources:
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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Sources:
32MalaCards
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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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Genetic Variations for Congenital Lactase Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Lactase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1LCTp.Gln268HisVAR_026706
2LCTp.Gly1363SerVAR_026708

Expression for genes affiliated with Congenital Lactase Deficiency

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Sources:
1BioGPS, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet