MCID: SCR037
MIFTS: 33

Sucrase-Isomaltase Deficiency, Congenital

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Metabolic diseases

Aliases & Classifications for Sucrase-Isomaltase Deficiency, Congenital

MalaCards integrated aliases for Sucrase-Isomaltase Deficiency, Congenital:

Name: Sucrase-Isomaltase Deficiency, Congenital 53 49 13 69
Congenital Sucrase-Isomaltase Deficiency 49 24 55 71 36
Csid 53 49 24 55 71
Disaccharide Intolerance I 53 24 71
Disaccharide Intolerance 55 51 69
Si Deficiency 53 49 24
Congenital Sucrose Intolerance 24 55
Sucrase-Isomaltase Deficiency 24 28
Sucrose-Isomaltose Malabsorption, Congenital 53
Sucrose-Isomaltase Malabsorption, Congenital 49
Congenital Sucrose-Isomaltase Malabsorption 49
Congenital Sucrose Isomaltose Malabsorption 49
Congenital Sucrose-Isomaltose Malabsorption 24
Congenital Sucrase-Isomaltose Malabsorption 55
Sucrose Isomaltose Enzyme Deficiency 49
Sucrose Intolerance, Congenital 53
Sucrose Intolerance Congenital 49
Disaccharide Intolerance, 1 49
Sucrase-Isomaltase 13

Characteristics:

Orphanet epidemiological data:

55
congenital sucrase-isomaltase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
sucrase-isomaltase deficiency, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 222900
Orphanet 55 ORPHA35122
MESH via Orphanet 42 C538139
UMLS via Orphanet 70 C1283620
ICD10 via Orphanet 33 E74.3
MedGen 39 C1283620
KEGG 36 H00115

Summaries for Sucrase-Isomaltase Deficiency, Congenital

NIH Rare Diseases : 49 Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene. Last updated: 5/17/2011

MalaCards based summary : Sucrase-Isomaltase Deficiency, Congenital, also known as congenital sucrase-isomaltase deficiency, is related to global disaccharide intolerance and lactase deficiency, congenital, and has symptoms including vomiting, diarrhea and abdominal distention. An important gene associated with Sucrase-Isomaltase Deficiency, Congenital is SI (Sucrase-Isomaltase), and among its related pathways/superpathways is Starch and sucrose metabolism. Affiliated tissues include small intestine.

UniProtKB/Swiss-Prot : 71 Congenital sucrase-isomaltase deficiency: Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI.

Genetics Home Reference : 24 Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates).

Wikipedia : 72 Sucrase-isomaltase (EC 3.2.1.10), is a glucosidase enzyme located on the brush border of the small... more...

Description from OMIM: 222900

Related Diseases for Sucrase-Isomaltase Deficiency, Congenital

Graphical network of the top 20 diseases related to Sucrase-Isomaltase Deficiency, Congenital:



Diseases related to Sucrase-Isomaltase Deficiency, Congenital

Symptoms & Phenotypes for Sucrase-Isomaltase Deficiency, Congenital

Symptoms via clinical synopsis from OMIM:

53
GI:
malabsorption
diarrhea
disaccharide intolerance

Lab:
sucrase-isomerase deficiency

GU:
renal calculi


Clinical features from OMIM:

222900

Human phenotypes related to Sucrase-Isomaltase Deficiency, Congenital:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002013
2 diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002014
3 abdominal distention 55 31 occasional (7.5%) Occasional (29-5%) HP:0003270
4 abdominal colic 55 31 occasional (7.5%) Occasional (29-5%) HP:0011848
5 malabsorption 31 HP:0002024
6 abnormality of metabolism/homeostasis 31 HP:0001939
7 nephrolithiasis 31 HP:0000787

Drugs & Therapeutics for Sucrase-Isomaltase Deficiency, Congenital

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial to Evaluate the Frequency of Genetic Sucrase-Isomaltase Deficiency Genotypes, and the Efficacy and Safety of Sucraid® (Sacrosidase) Oral Solution in Subjects With Chronic Diarrhea and Sucrase Deficiency Withdrawn NCT02784067 Phase 4 Sucraid;Placebo
2 Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS) Completed NCT01914003

Search NIH Clinical Center for Sucrase-Isomaltase Deficiency, Congenital

Genetic Tests for Sucrase-Isomaltase Deficiency, Congenital

Genetic tests related to Sucrase-Isomaltase Deficiency, Congenital:

# Genetic test Affiliating Genes
1 Sucrase-Isomaltase Deficiency 28 SI

Anatomical Context for Sucrase-Isomaltase Deficiency, Congenital

MalaCards organs/tissues related to Sucrase-Isomaltase Deficiency, Congenital:

38
Small Intestine

Publications for Sucrase-Isomaltase Deficiency, Congenital

Articles related to Sucrase-Isomaltase Deficiency, Congenital:

(show all 25)
# Title Authors Year
1
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation. ( 25452324 )
2015
2
Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children. ( 24433566 )
2014
3
Congenital sucrase-isomaltase deficiency: diet assessment and education guidelines. ( 23103652 )
2012
4
Starch digestion and patients with congenital sucrase-isomaltase deficiency. ( 23103646 )
2012
5
Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family. ( 23103651 )
2012
6
50 years of progress since congenital sucrase-isomaltase deficiency recognition. ( 23103644 )
2012
7
Research progress reported at the 50th Anniversary of the Discovery of Congenital Sucrase-Isomaltase Deficiency Workshop. ( 23103641 )
2012
8
Clinical aspects and treatment of congenital sucrase-isomaltase deficiency. ( 23103658 )
2012
9
Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex. ( 23103643 )
2012
10
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. ( 19121318 )
2009
11
13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients. ( 19330928 )
2009
12
Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency. ( 16543230 )
2006
13
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. ( 14724820 )
2003
14
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. ( 12014995 )
2002
15
Index of suspicion. Case 3. Congenital sucrase-isomaltase deficiency. ( 10702073 )
2000
16
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. ( 10903344 )
2000
17
Sacrosidase therapy for congenital sucrase-isomaltase deficiency. ( 9932843 )
1999
18
Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucrase-isomaltase deficiency. ( 8648532 )
1996
19
Congenital sucrase-isomaltase deficiency: identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. ( 8609217 )
1996
20
Clinical heterogeneity in congenital sucrase-isomaltase deficiency. ( 8648527 )
1996
21
Congenital sucrase-isomaltase deficiency. ( 8576798 )
1995
22
Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. ( 3553946 )
1987
23
Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency. ( 3925457 )
1985
24
Subcellular fractionation studies of the intestinal mucosa in congenital sucrase--isomaltase deficiency. ( 383373 )
1979
25
Congenital sucrase-isomaltase deficiency. Observations over a period of 6 years. ( 5041318 )
1972

Variations for Sucrase-Isomaltase Deficiency, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Sucrase-Isomaltase Deficiency, Congenital:

71 (show all 11)
# Symbol AA change Variation ID SNP ID
1 SI p.Gln1098Pro VAR_007854 rs121912611
2 SI p.Gln117Arg VAR_025368 rs121912612
3 SI p.Leu341Pro VAR_025370 rs267607049
4 SI p.Val577Gly VAR_025371 rs121912615
5 SI p.Ser594Pro VAR_025372 rs765433197
6 SI p.Leu620Pro VAR_025373 rs121912613
7 SI p.Thr694Pro VAR_025374
8 SI p.Gly1073Asp VAR_025375 rs121912616
9 SI p.Cys1229Tyr VAR_025376 rs121912614
10 SI p.Arg1367Gly VAR_025377 rs143388292
11 SI p.Phe1745Cys VAR_025379 rs79717168

ClinVar genetic disease variations for Sucrase-Isomaltase Deficiency, Congenital:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SI NM_001041.3(SI): c.3293A> C (p.Gln1098Pro) single nucleotide variant Pathogenic rs121912611 GRCh37 Chromosome 3, 164737520: 164737520
2 SI NM_001041.3(SI): c.1022T> C (p.Leu341Pro) single nucleotide variant Pathogenic rs267607049 GRCh37 Chromosome 3, 164777814: 164777814
3 SI NM_001041.3(SI): c.350A> G (p.Gln117Arg) single nucleotide variant Pathogenic rs121912612 GRCh37 Chromosome 3, 164786889: 164786889
4 SI NM_001041.3(SI): c.1859T> C (p.Leu620Pro) single nucleotide variant Pathogenic rs121912613 GRCh37 Chromosome 3, 164764657: 164764657
5 SI NM_001041.3(SI): c.3686G> A (p.Cys1229Tyr) single nucleotide variant Pathogenic rs121912614 GRCh37 Chromosome 3, 164735409: 164735409
6 SI NM_001041.3(SI): c.3218G> A (p.Gly1073Asp) single nucleotide variant Pathogenic rs121912616 GRCh37 Chromosome 3, 164739053: 164739053

Expression for Sucrase-Isomaltase Deficiency, Congenital

Search GEO for disease gene expression data for Sucrase-Isomaltase Deficiency, Congenital.

Pathways for Sucrase-Isomaltase Deficiency, Congenital

Pathways related to Sucrase-Isomaltase Deficiency, Congenital according to KEGG:

36
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500

GO Terms for Sucrase-Isomaltase Deficiency, Congenital

Sources for Sucrase-Isomaltase Deficiency, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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