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congenital lactase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital lactase deficiency

MONDO:0009115

Also known as:Alactasia, congenitaldisaccharide intolerance 2lactase deficiency, congenital

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Overview

Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.

GeneticsAutosomal recessive · LCT (chr 2)

OnsetCONGENITAL

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration, and Metabolic acidosis and 1 more.

Organ System	Phenotype Count	Example Features
Digestive system	2	Diarrhea, Decreased small intestinal mucosa lactase level

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LCT encodes lactase (1,927 aa). Broad specificity glycosidase of the intestinal brush border membrane that hydrolyzes lactose, the main sugar in mammalian milk, to produce D-glucose and D-galactose. Highest expression in Small Intestine Terminal Ileum (1.1 TPM) and Testis (0.3 TPM).

Congenital lactase deficiency is associated with mutations in the LCT gene on chromosome 2.

The LCT protein participates in Defective LCT does not hydrolyze Lac and Intestinal saccharidase deficiencies pathways.

LCT is classified as a druggable target (Druggable Genome and Enzyme categories) with score 104.4.

Diagnosis

Genetic testing for LCT is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital lactase deficiency has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include drug therapy and other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

44 publications have been identified in PubMed for congenital lactase deficiency. Research spans Basic Science / Preclinical (30%), Clinical Trial Publication (23%), and Diagnostic / Biomarker (20%).

Research Type	Count	% of Total
Laboratory research	13

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 3:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:223000

Orphanet

European rare disease database

Orphanet:53690

GARD

Genetic and Rare Diseases Info Center

GARD:12311

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital lactase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital lactase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications