MCID: LCT019
MIFTS: 21

Lactase Persistence/nonpersistence

Categories: Genetic diseases

Aliases & Classifications for Lactase Persistence/nonpersistence

MalaCards integrated aliases for Lactase Persistence/nonpersistence:

Name: Lactase Persistence/nonpersistence 54
Hypolactasia, Adult Type 24 52
Lactase Persistence 24 69
Lactose Intolerance, Adult Type 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
lactase persistence/nonpersistence:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 223100

Summaries for Lactase Persistence/nonpersistence

OMIM : 54
In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood (Olds and Sibley, 2003). (223100)

MalaCards based summary : Lactase Persistence/nonpersistence, also known as hypolactasia, adult type, is related to lactase deficiency, congenital and lactose intolerance, and has symptoms including diarrhea, abnormality of metabolism/homeostasis and lactose intolerance. An important gene associated with Lactase Persistence/nonpersistence is MCM6 (Minichromosome Maintenance Complex Component 6). Affiliated tissues include colon and small intestine, and related phenotype is Decreased shRNA abundance.

Wikipedia : 72 Lactase persistence is the continued activity of the lactase enzyme in adulthood. Since lactase\'s only... more...

Related Diseases for Lactase Persistence/nonpersistence

Diseases related to Lactase Persistence/nonpersistence via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 lactase deficiency, congenital 10.9
2 lactose intolerance 10.0
3 obesity 9.8
4 prostate cancer 9.7
5 renal cell carcinoma 9.7
6 cystic fibrosis 9.7
7 bone fracture 9.7
8 trypanosomiasis 9.7
9 prostatitis 9.7
10 duodenitis 9.7
11 irritable bowel syndrome 9.7
12 blind loop syndrome 9.2 LCT MCM6

Graphical network of the top 20 diseases related to Lactase Persistence/nonpersistence:



Diseases related to Lactase Persistence/nonpersistence

Symptoms & Phenotypes for Lactase Persistence/nonpersistence

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
lactase deficiency

Abdomen- Gastroin testinal:
abdominal pain
flatulence
gas bloat
diarrhea


Clinical features from OMIM:

223100

Human phenotypes related to Lactase Persistence/nonpersistence:

32
id Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 lactose intolerance 32 HP:0004789

GenomeRNAi Phenotypes related to Lactase Persistence/nonpersistence according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 LCT MCM6
2 Decreased shRNA abundance GR00251-A-2 9.23 LCT MCM6

Drugs & Therapeutics for Lactase Persistence/nonpersistence

Search Clinical Trials , NIH Clinical Center for Lactase Persistence/nonpersistence

Genetic Tests for Lactase Persistence/nonpersistence

Genetic tests related to Lactase Persistence/nonpersistence:

id Genetic test Affiliating Genes
1 Lactose Intolerance, Adult Type 24 MCM6

Anatomical Context for Lactase Persistence/nonpersistence

MalaCards organs/tissues related to Lactase Persistence/nonpersistence:

39
Colon, Small Intestine

Publications for Lactase Persistence/nonpersistence

Variations for Lactase Persistence/nonpersistence

ClinVar genetic disease variations for Lactase Persistence/nonpersistence:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MCM6 MCM6, EX17, T/C single nucleotide variant Pathogenic

Expression for Lactase Persistence/nonpersistence

Search GEO for disease gene expression data for Lactase Persistence/nonpersistence.

Pathways for Lactase Persistence/nonpersistence

GO Terms for Lactase Persistence/nonpersistence

Molecular functions related to Lactase Persistence/nonpersistence according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.62 LCT MCM6

Sources for Lactase Persistence/nonpersistence

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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