MCID: LCT013
MIFTS: 19

Lactase Deficiency, Congenital malady

Genetic diseases, Metabolic diseases, Gastrointestinal diseases, Rare diseases categories

Aliases & Classifications for Lactase Deficiency, Congenital

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Sources:
46OMIM, 9diseasecard, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Aliases & Descriptions for Lactase Deficiency, Congenital:

Name: Lactase Deficiency, Congenital 46 9 20 44 61
 
Congenital Lactase Deficiency 48 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital lactase deficiency:
Inheritance: Autosomal recessive


External Ids:

OMIM46 223000
Orphanet48 53690
ICD10 via Orphanet26 E73.0
UMLS via Orphanet62 C0268179
ICD1025 E73.0

Summaries for Lactase Deficiency, Congenital

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OMIM:46 Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed... (223000) more...

MalaCards based summary: Lactase Deficiency, Congenital, also known as congenital lactase deficiency, is related to lactose intolerance and nephrocalcinosis, and has symptoms including autosomal recessive inheritance, metabolic acidosis and dehydration. An important gene associated with Lactase Deficiency, Congenital is LCT (lactase). Affiliated tissues include breast.

Related Diseases for Lactase Deficiency, Congenital

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

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

Symptoms for Lactase Deficiency, Congenital

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Symptoms by clinical synopsis from OMIM:

223000

Clinical features from OMIM:

223000

HPO human phenotypes related to Lactase Deficiency, Congenital:

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 Lactase Deficiency, Congenital

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Drug clinical trials:

Search ClinicalTrials for Lactase Deficiency, Congenital

Search NIH Clinical Center for Lactase Deficiency, Congenital

Genetic Tests for Lactase Deficiency, Congenital

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Genetic tests related to Lactase Deficiency, Congenital:

id Genetic test Affiliating Genes
1 Congenital Lactase Deficiency20 22 LCT

Anatomical Context for Lactase Deficiency, Congenital

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MalaCards organs/tissues related to Lactase Deficiency, Congenital:

31
Breast

Animal Models for Lactase Deficiency, Congenital or affiliated genes

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Publications for Lactase Deficiency, Congenital

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Variations for Lactase Deficiency, Congenital

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

63
id Symbol AA change Variation ID SNP ID
1LCTp.Gln268HisVAR_026706
2LCTp.Gly1363SerVAR_026708

Clinvar genetic disease variations for Lactase Deficiency, Congenital:

5
id Gene Variation 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 Lactase Deficiency, Congenital

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

Pathways for genes affiliated with Lactase Deficiency, Congenital

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Compounds for genes affiliated with Lactase Deficiency, Congenital

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GO Terms for genes affiliated with Lactase Deficiency, Congenital

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Sources for Lactase Deficiency, Congenital

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet