MCID: LCT011
MIFTS: 23

Lactose Intolerance, Adult Type

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Lactose Intolerance, Adult Type

MalaCards integrated aliases for Lactose Intolerance, Adult Type:

Name: Lactose Intolerance, Adult Type 57 73
Disaccharide Intolerance Iii 57 76
Hypolactasia, Adult Type 57 55
Lactase Persistence/nonpersistence 57
Adult Lactase Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
lactose intolerance, adult type:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 223100
MedGen 42 C0268181
UMLS 73 C0268181

Summaries for Lactose Intolerance, Adult Type

OMIM : 57 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 diarrhea

Wikipedia : 76 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 9.0 LCT MCM6

Symptoms & Phenotypes for Lactose Intolerance, Adult Type

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
diarrhea
gas bloat
flatulence
abdominal pain

Laboratory Abnormalities:
lactase deficiency


Clinical features from OMIM:

223100

Human phenotypes related to Lactose Intolerance, Adult Type:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 diarrhea 32 HP:0002014
3 abdominal pain 32 HP:0002027
4 lactose intolerance 32 HP:0004789
5 decreased small intestinal mucosa lactase activity 32 HP:0025130

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:

26
# 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 Nutraceutical

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:

41
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

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....