MCID: INT043
MIFTS: 25

Intestinal Disaccharidase Deficiency

Categories: Gastrointestinal diseases, Metabolic diseases

Aliases & Classifications for Intestinal Disaccharidase Deficiency

MalaCards integrated aliases for Intestinal Disaccharidase Deficiency:

Name: Intestinal Disaccharidase Deficiency 12 15
Disaccharidase Deficiency 70

Classifications:



External Ids:

Disease Ontology 12 DOID:9868
ICD9CM 34 271.3
NCIt 50 C34731
UMLS 70 C0021830 C0699848

Summaries for Intestinal Disaccharidase Deficiency

MalaCards based summary : Intestinal Disaccharidase Deficiency, also known as disaccharidase deficiency, is related to glycogen storage disease iii and celiac disease 1. An important gene associated with Intestinal Disaccharidase Deficiency is MGAM (Maltase-Glucoamylase), and among its related pathways/superpathways are Glucose metabolism and Glycosaminoglycan metabolism. Affiliated tissues include small intestine, and related phenotype is Reduced mammosphere formation.

Wikipedia : 73 Disaccharidases are glycoside hydrolases, enzymes that break down certain types of sugars called... more...

Related Diseases for Intestinal Disaccharidase Deficiency

Diseases related to Intestinal Disaccharidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease iii 10.1 MGAM GBE1
2 celiac disease 1 10.0
3 acquired immunodeficiency syndrome 10.0
4 retinitis pigmentosa 18 10.0 MGAM GAPDH
5 carbohydrate metabolic disorder 10.0 MGAM GBE1
6 endocarditis 9.9 TPI1 GAPDH
7 mucopolysaccharidosis, type ii 9.8 MGAM FMR1
8 schistosomiasis 9.8 TPI1 GAPDH
9 kaufman oculocerebrofacial syndrome 9.7 GAPDH FMR1
10 kagami-ogata syndrome 9.6 GAPDH FMR1
11 x-linked monogenic disease 9.5 GAPDH FMR1
12 amyotrophic lateral sclerosis 1 9.2 TPI1 GBE1 GAPDH FMR1

Graphical network of the top 20 diseases related to Intestinal Disaccharidase Deficiency:



Diseases related to Intestinal Disaccharidase Deficiency

Symptoms & Phenotypes for Intestinal Disaccharidase Deficiency

GenomeRNAi Phenotypes related to Intestinal Disaccharidase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 FBL GAPDH MGAM TPI1

Drugs & Therapeutics for Intestinal Disaccharidase Deficiency

Search Clinical Trials , NIH Clinical Center for Intestinal Disaccharidase Deficiency

Genetic Tests for Intestinal Disaccharidase Deficiency

Anatomical Context for Intestinal Disaccharidase Deficiency

MalaCards organs/tissues related to Intestinal Disaccharidase Deficiency:

40
Small Intestine

Publications for Intestinal Disaccharidase Deficiency

Articles related to Intestinal Disaccharidase Deficiency:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Relationships between disaccharidase deficiencies, duodenal inflammation and symptom profile in children with abdominal pain. 61
33649365 2021
2
Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders. 61
32732636 2021
3
Prevalence of Disaccharidase Deficiency in Adults With Unexplained Gastrointestinal Symptoms. 61
32380581 2020
4
Disaccharidase Deficiency as a Cause of Unexplained Functional Gastrointestinal Disorder. 61
32606251 2020
5
Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome. 61
31493040 2020
6
Clinical and Histopathologic Predictors of Disaccharidase Deficiency in Duodenal Biopsy Specimens. 61
31332425 2019
7
Personalized medicine in functional gastrointestinal disorders: Understanding pathogenesis to increase diagnostic and treatment efficacy. 61
30886502 2019
8
Clinical Characteristics of Disaccharidase Deficiencies Among Children Undergoing Upper Endoscopy. 61
29762380 2018
9
Demographic and Clinical Correlates of Mucosal Disaccharidase Deficiencies in Children With Functional Dyspepsia. 61
29762379 2018
10
Variable Use of Disaccharidase Assays When Evaluating Abdominal Pain. 61
29491758 2018
11
[Disaccharidase deficiency and functional bowel diseases]. 61
28514399 2017
12
The Microbiota Contributes to CD8+ T Cell Activation and Nutrient Malabsorption following Intestinal Infection with Giardia duodenalis. 61
27456829 2016
13
Reference Intervals for Intestinal Disaccharidase Activities Determined from a Non-Reference Population. 61
33626784 2016
14
Lactose intolerance and other disaccharidase deficiency. 61
24596060 2014
15
Tinospora cordifolia, a novel source of extracellular disaccharidases, useful for human disaccharidase deficiency therapy. 61
22807302 2013
16
Gastrointestinal endoscopy and mucosal biopsy in the first year of life: indications and outcome. 61
22210413 2012
17
Disaccharidase deficiency in pediatric patients with celiac disease and intact villi. 61
21936724 2011
18
Host immunity and pathogen strain contribute to intestinal disaccharidase impairment following gut infection. 61
21873528 2011
19
[Algorithm for diagnosis of small intestinal diseases]. 61
18491580 2008
20
CDG-Id in two siblings with partially different phenotypes. 61
17551933 2007
21
Adult-type hypolactasia: clinical, morphologic and functional characteristics in Brazilian patients at a university hospital. 61
15448425 2004
22
[Specificity of ferrokinetics in children with enzymopathy of small intestine]. 61
14723139 2003
23
Intestinal disaccharidase deficiency without villous atrophy may represent early celiac disease. 61
11252408 2001
24
The prevalence and severity of intestinal disaccharidase deficiency in human immunodeficiency virus-infected subjects. 61
10912659 2000
25
Use of breath hydrogen testing to detect experimentally induced disaccharide malabsorption in healthy adult dogs. 61
10407476 1999
26
Using a cutoff of <10 ppm for breath hydrogen testing: a review of five years' experience. 61
10074962 1999
27
[Selective disaccharidase deficiency]. 61
9589975 1998
28
Evaluation of differential disaccharide excretion in urine for non-invasive investigation of altered intestinal disaccharidase activity caused by alpha-glucosidase inhibition, primary hypolactasia, and coeliac disease. 61
8949640 1996
29
Evaluating the child with chronic diarrhea. 61
8629543 1996
30
Regulation of sucrase-isomaltase gene expression in human intestinal epithelial cells by inflammatory cytokines. 61
8557656 1996
31
Formula allergy and intolerance. 61
7729855 1995
32
Disaccharidase activity in male and female C57BL/6 mice infected with Giardia muris. 61
7731922 1995
33
Morphological method for the diagnosis of human adult type hypolactasia. 61
7926903 1994
34
Small intestinal glucoamylase deficiency and starch malabsorption: a newly recognized alpha-glucosidase deficiency in children. 54
8151467 1994
35
[Congenital villous atrophy. Disease picture of congenital chronic diarrhea with poor prognosis]. 61
8114773 1993
36
Disaccharidase activity in the small intestine of susceptible and resistant mice after primary and challenge infections with Giardia muris. 61
1533493 1992
37
Enzymes as agents for the treatment of disease. 61
1572079 1992
38
Combined assessment of intestinal disaccharidases in congenital asucrasia by differential urinary disaccharide excretion. 61
2370309 1990
39
Disaccharidase activity in the small intestine of gerbils (Meriones unguiculatus) during primary and challenge infections with Giardia lamblia. 61
2806988 1989
40
Small bowel biopsy for disaccharidase levels: evidence that endoscopic forceps biopsy can replace the Crosby capsule. 61
2509114 1989
41
Relationship of endomysial antibodies to jejunal mucosal pathology: specificity towards both symptomatic and asymptomatic celiacs. 61
3199273 1988
42
Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. 61
3553946 1987
43
Stool chemistries in patients with unexplained diarrhea. 61
3706093 1986
44
Sequential disaccharidase loss in rat intestinal blind loops: impact of malnutrition. 61
3159266 1985
45
Disaccharidase deficiency in amniotic fluid from cases of cystic fibrosis. 61
2859586 1985
46
Disaccharidase deficiency and malabsorption of carbohydrates. 61
6463667 1984
47
Adult onset sucrase-isomaltase deficiency with secondary disaccharidase deficiency resulting from severe dietary carbohydrate restriction. 61
6839910 1983
48
Elevated intestinal disaccharidase activity in the streptozotocin-diabetic rat is independent of enteral feeding. 61
6402407 1983
49
Features of small intestinal pathology (epithelial cell kinetics, intraepithelial lymphocytes, disaccharidases) in a primary Giardia muris infection. 61
7076025 1982
50
Prevalence of transient disaccharidase deficiency in Singapore children with acute gastroenteritis. 61
7343783 1981

Variations for Intestinal Disaccharidase Deficiency

Expression for Intestinal Disaccharidase Deficiency

Search GEO for disease gene expression data for Intestinal Disaccharidase Deficiency.

Pathways for Intestinal Disaccharidase Deficiency

GO Terms for Intestinal Disaccharidase Deficiency

Cellular components related to Intestinal Disaccharidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.02 TPI1 MGAM GBE1 GAPDH FBL
2 Cajal body GO:0015030 8.96 FMR1 FBL

Biological processes related to Intestinal Disaccharidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of translation GO:0017148 9.32 GAPDH FMR1
2 glucose metabolic process GO:0006006 9.26 TPI1 GAPDH
3 gluconeogenesis GO:0006094 9.16 TPI1 GAPDH
4 glycolytic process GO:0006096 8.96 TPI1 GAPDH
5 canonical glycolysis GO:0061621 8.62 TPI1 GAPDH

Molecular functions related to Intestinal Disaccharidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.13 TPI1 MGAM GBE1
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.62 MGAM GBE1

Sources for Intestinal Disaccharidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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