LACTOSE INTOLERANCE, ADULT TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: DISACCHARIDE INTOLERANCE III LACTASE PERSISTENCE, INCLUDED
HYPOLACTASIA, ADULT TYPE
ADULT LACTASE DEFICIENCY
Number of Symptoms 7
OrphanetNr:
OMIM Id: 223100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004789) Lactose intolerance 2 / 7739
2
(HPO:0002014) Diarrhea 225 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Milk intolerance 1 / 7739
6
(OMIM) Disaccharice intolerance 1 / 7739
7
(MedDRA:10023648) Lactase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Montgomery et al. (1991) stated that in those humans who have low lactase activity as adults, the decline occurs at approximately 3 to 5 years of age. They suggested that the developmental pattern of lactase expression is probably ...
Molecular genetics OMIM Before the studies by Wang et al. (1995), it had not been clear whether the sequence differences responsible for lactase persistence/nonpersistence reside within or adjacent to the lactase gene itself (603202) or in a trans-acting factor. Wang et ...
Population genetics OMIM Cuatrecasas et al. (1965) found that 3 of 19 whites and 11 of 42 blacks had deficient absorption of lactose.

Studies in groups around had world confirmed that adult lactase deficiency is a racial characteristic (Bayless ...