Congenital lactase deficiency

Description

lactose intolerance: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.

Data source
FinnGen phenocode E4_LACTOCON
Hospital Discharge registry ICD-10: E730
Cause of Death registry ICD-10: E730
Level in the ICD-hierarchy 4
First defined in version DF2
Ontology
DOID 10604
GWAS catalog 1000062
MESH D007787
SNOMED CT 267425008

Key figures

Sex All Female Male
Number of individuals 24 17 7
Unadjusted prevalence (%) 0.01 0.02 0.01
Mean age at first event (years) 36.77 37.75 34.41
Case fatality at 5-years (%) 0.0 0.0 0.0

Longitudinal metrics

Sex All Female Male
Median nb. of events per indiv. 1 1 1
Recurrence at 6 months (%) 12.5 11.76 14.29

Associations

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