Details of Disease | DrugMAP

General Information of Disease (ID: DISXVBZL)

Disease Name	Congenital lactase deficiency
Synonyms	Alactasia, congenital; lactase deficiency, congenital; disaccharide intolerance 2; congenital lactase deficiency
Definition	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.
Disease Hierarchy	DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption DISXVBZL: Congenital lactase deficiency
Disease Identifiers	MONDO ID MONDO_0009115 MESH ID C562600 UMLS CUI C0268179 OMIM ID 223000 MedGen ID 120617 Orphanet ID 53690 SNOMED CT ID 5388008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LCT	TTA0OSE	Limited	Biomarker	[1]
LCT	TTA0OSE	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LCT	OT6GAZUG	Strong	Autosomal recessive	[2]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.