Congenital lactase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: DISACCHARIDE INTOLERANCE II
ALACTASIA, CONGENITAL
Number of Symptoms 8
OrphanetNr: 53690
OMIM Id: 223000
ICD-10: E73.0
UMLs: C0268179
MeSH:
MedDRA:
Snomed: 5388008

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal disease due to an enzymatic defect
 -Rare gastroenterologic disease
 -Rare genetic disease
Disorder of carbohydrate absorption and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0004789) Lactose intolerance 2 / 7739
2
(HPO:0002014) Diarrhea 225 / 7739
3
(HPO:0001944) Dehydration 59 / 7739
4
(HPO:0001942) Metabolic acidosis 81 / 7739
5
(OMIM) Neonatal diarrhea 1 / 7739
6
(OMIM) Normal maltase, isomaltase, and sucrase activity 1 / 7739
7
(OMIM) Decreased-absent intestinal mucosa lactase activity 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas.
Clinical Description OMIM In disaccharide intolerance II, cellobiose intolerance would be expected as well as that for lactose. Sucrose, maltose, and starch are well tolerated. In a breastfed infant who developed watery diarrhea on the third day of life, Levin et ...
Molecular genetics OMIM Poggi and Sebastio (1991) sequenced the exons, the exon-intron boundaries, and the promoter region of the lactase gene of a Finnish patient with congenital lactase deficiency. No mutation leading to a missense, frameshift, or other change in amino ...