MCID: SCR037
MIFTS: 28

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 54 50 13 69
Congenital Sucrase-Isomaltase Deficiency 50 24 25 56 71
Csid 50 24 25 56 71
Congenital Sucrose Intolerance 24 25 56
Disaccharide Intolerance I 24 25 71
Disaccharide Intolerance 56 52 69
Si Deficiency 50 24 25
Congenital Sucrose-Isomaltose Malabsorption 24 25
Sucrase-Isomaltase Deficiency 25 29
Sucrose-Isomaltase Malabsorption, Congenital 50
Congenital Sucrose-Isomaltase Malabsorption 50
Congenital Sucrose Isomaltose Malabsorption 50
Congenital Sucrase-Isomaltose Malabsorption 56
Sucrose Isomaltose Enzyme Deficiency 50
Sucrose Intolerance Congenital 50
Disaccharide Intolerance, 1 50
Sucrase-Isomaltase 13

Characteristics:

Orphanet epidemiological data:

56
congenital sucrase-isomaltase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
sucrase-isomaltase deficiency, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 222900
Orphanet 56 ORPHA35122
MESH via Orphanet 43 C538139
UMLS via Orphanet 70 C1283620
ICD10 via Orphanet 34 E74.3
MedGen 40 C1283620

Summaries for Sucrase-Isomaltase Deficiency, Congenital

NIH Rare Diseases : 50 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 congenital sucrase-isomaltase deficiency with starch intolerance and congenital sucrase-isomaltase deficiency without starch intolerance, and has symptoms including diarrhea, nephrolithiasis and vomiting. An important gene associated with Sucrase-Isomaltase Deficiency, Congenital is SI (Sucrase-Isomaltase).

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 : 25 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).

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:

54

Lab:
sucrase-isomerase deficiency

GI:
disaccharide intolerance
diarrhea
malabsorption

GU:
renal calculi


Clinical features from OMIM:

222900

Human phenotypes related to Sucrase-Isomaltase Deficiency, Congenital:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 diarrhea 32 hallmark (90%) HP:0002014
2 nephrolithiasis 32 HP:0000787
3 vomiting 32 frequent (33%) HP:0002013
4 malabsorption 32 HP:0002024
5 abdominal distention 32 occasional (7.5%) HP:0003270
6 abdominal colic 32 occasional (7.5%) HP:0011848
7 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Sucrase-Isomaltase Deficiency, Congenital

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Sucrase-Isomaltase Deficiency 29
2 Congenital Sucrase-Isomaltase Deficiency 24 SI

Anatomical Context for Sucrase-Isomaltase Deficiency, Congenital

Publications for Sucrase-Isomaltase Deficiency, Congenital

Variations for Sucrase-Isomaltase Deficiency, Congenital

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

71 (show all 11)
id 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
id 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.5234T> G (p.Phe1745Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79717168 GRCh37 Chromosome 3, 164700803: 164700803
7 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

GO Terms for Sucrase-Isomaltase Deficiency, Congenital

Sources for Sucrase-Isomaltase Deficiency, Congenital

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