MCID: LCT011
MIFTS: 24

Lactose Intolerance, Adult Type

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Lactose Intolerance, Adult Type

MalaCards integrated aliases for Lactose Intolerance, Adult Type:

Name: Lactose Intolerance, Adult Type 58 74
Disaccharide Intolerance Iii 58 77
Hypolactasia, Adult Type 58 56
Lactase Persistence/nonpersistence 58
Lactose Intolerance Adult Type 17
Adult Lactase Deficiency 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
lactose intolerance, adult type:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Lactose Intolerance, Adult Type

OMIM : 58 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 : Lactose Intolerance, Adult Type, also known as disaccharide intolerance iii, is related to lactose intolerance, and has symptoms including abdominal pain, diarrhea and flatulence. An important gene associated with Lactose Intolerance, Adult Type is MCM6 (Minichromosome Maintenance Complex Component 6). The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include small intestine and colon, and related phenotypes are abnormality of metabolism/homeostasis and abdominal pain

Wikipedia : 77 Disaccharidases are glycoside hydrolases, enzymes that break down certain types of sugars called... more...

Related Diseases for Lactose Intolerance, Adult Type

Diseases in the Lactose Intolerance family:

Lactose Intolerance, Adult Type

Diseases related to Lactose Intolerance, Adult Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lactose intolerance 9.5 LCT MCM6

Symptoms & Phenotypes for Lactose Intolerance, Adult Type

Human phenotypes related to Lactose Intolerance, Adult Type:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 abdominal pain 33 HP:0002027
3 diarrhea 33 HP:0002014
4 lactose intolerance 33 HP:0004789
5 decreased small intestinal mucosa lactase activity 33 HP:0025130

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
abdominal pain
diarrhea
flatulence
gas bloat

Laboratory Abnormalities:
lactase deficiency

Clinical features from OMIM:

223100

UMLS symptoms related to Lactose Intolerance, Adult Type:


abdominal pain, diarrhea, flatulence, gas bloat

GenomeRNAi Phenotypes related to Lactose Intolerance, Adult Type according to GeneCards Suite gene sharing:

27
# 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 Lactose Intolerance, Adult Type

Drugs for Lactose Intolerance, Adult Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of the Colonic Metabolism in Patients With Lactose Intolerance and Healthy Controls Completed NCT02171403

Search NIH Clinical Center for Lactose Intolerance, Adult Type

Genetic Tests for Lactose Intolerance, Adult Type

Anatomical Context for Lactose Intolerance, Adult Type

MalaCards organs/tissues related to Lactose Intolerance, Adult Type:

42
Small Intestine, Colon

Publications for Lactose Intolerance, Adult Type

Articles related to Lactose Intolerance, Adult Type:

# Title Authors Year
1
Immunocytochemical heterogeneity of lactase-phlorizin hydrolase in adult lactase deficiency. ( 8514062 )
1993

Variations for Lactose Intolerance, Adult Type

ClinVar genetic disease variations for Lactose Intolerance, Adult Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MCM6 NM_005915.5(MCM6): c.1654A> G (p.Ile552Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 136610458: 136610458
2 MCM6 NM_005915.5(MCM6): c.1654A> G (p.Ile552Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 135852888: 135852888
3 MCM6 NM_005915.5(MCM6): c.1402C> T (p.Arg468Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 136615535: 136615535
4 MCM6 NM_005915.5(MCM6): c.1402C> T (p.Arg468Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 135857965: 135857965

Expression for Lactose Intolerance, Adult Type

Search GEO for disease gene expression data for Lactose Intolerance, Adult Type.

Pathways for Lactose Intolerance, Adult Type

GO Terms for Lactose Intolerance, Adult Type

Molecular functions related to Lactose Intolerance, Adult Type according to GeneCards Suite gene sharing:

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

Sources for Lactose Intolerance, Adult Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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