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 57 53 13 40 73
Congenital Sucrase-Isomaltase Deficiency 53 25 59 75 37
Csid 57 53 25 59 75
Sucrase-Isomaltase Deficiency 25 29 6
Disaccharide Intolerance I 57 25 75
Disaccharide Intolerance 59 55 73
Si Deficiency 57 53 25
Congenital Sucrose Intolerance 25 59
Sucrose-Isomaltose Malabsorption, Congenital 57
Sucrose-Isomaltase Malabsorption, Congenital 53
Congenital Sucrose-Isomaltase Malabsorption 53
Congenital Sucrose Isomaltose Malabsorption 53
Congenital Sucrose-Isomaltose Malabsorption 25
Congenital Sucrase-Isomaltose Malabsorption 59
Sucrose Isomaltose Enzyme Deficiency 53
Sucrose Intolerance, Congenital 57
Sucrose Intolerance Congenital 53
Disaccharide Intolerance, 1 53
Sucrase-Isomaltase 13

Characteristics:

Orphanet epidemiological data:

59
congenital sucrase-isomaltase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 222900
Orphanet 59 ORPHA35122
ICD10 via Orphanet 34 E74.3
MESH via Orphanet 45 C538139
UMLS via Orphanet 74 C1283620
MedGen 42 C1283620
KEGG 37 H00115

Summaries for Sucrase-Isomaltase Deficiency, Congenital

NIH Rare Diseases : 53 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.

MalaCards based summary : Sucrase-Isomaltase Deficiency, Congenital, also known as congenital sucrase-isomaltase deficiency, is related to global disaccharide intolerance and lactase deficiency, congenital. 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 testes, and related phenotypes are diarrhea and vomiting

UniProtKB/Swiss-Prot : 75 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:

57
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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
2 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
3 abdominal distention 59 32 occasional (7.5%) Occasional (29-5%) HP:0003270
4 abdominal colic 59 32 occasional (7.5%) Occasional (29-5%) HP:0011848
5 nephrolithiasis 32 HP:0000787
6 abnormality of metabolism/homeostasis 32 HP:0001939
7 malabsorption 32 HP:0002024

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 29 SI

Anatomical Context for Sucrase-Isomaltase Deficiency, Congenital

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

41
Testes

Publications for Sucrase-Isomaltase Deficiency, Congenital

Articles related to Sucrase-Isomaltase Deficiency, Congenital:

(show all 26)
# Title Authors Year
1
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization. ( 27749612 )
2017
2
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation. ( 25452324 )
2015
3
Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children. ( 24433566 )
2014
4
Research progress reported at the 50th Anniversary of the Discovery of Congenital Sucrase-Isomaltase Deficiency Workshop. ( 23103641 )
2012
5
Clinical aspects and treatment of congenital sucrase-isomaltase deficiency. ( 23103658 )
2012
6
Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family. ( 23103651 )
2012
7
Congenital sucrase-isomaltase deficiency: diet assessment and education guidelines. ( 23103652 )
2012
8
Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex. ( 23103643 )
2012
9
50 years of progress since congenital sucrase-isomaltase deficiency recognition. ( 23103644 )
2012
10
Starch digestion and patients with congenital sucrase-isomaltase deficiency. ( 23103646 )
2012
11
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. ( 19121318 )
2009
12
13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients. ( 19330928 )
2009
13
Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency. ( 16543230 )
2006
14
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. ( 14724820 )
2003
15
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. ( 12014995 )
2002
16
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. ( 10903344 )
2000
17
Index of suspicion. Case 3. Congenital sucrase-isomaltase deficiency. ( 10702073 )
2000
18
Sacrosidase therapy for congenital sucrase-isomaltase deficiency. ( 9932843 )
1999
19
Clinical heterogeneity in congenital sucrase-isomaltase deficiency. ( 8648527 )
1996
20
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
21
Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucrase-isomaltase deficiency. ( 8648532 )
1996
22
Congenital sucrase-isomaltase deficiency. ( 8576798 )
1995
23
Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. ( 3553946 )
1987
24
Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency. ( 3925457 )
1985
25
Subcellular fractionation studies of the intestinal mucosa in congenital sucrase--isomaltase deficiency. ( 383373 )
1979
26
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:

75 (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
(show top 50) (show all 182)
# 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.3293A> C (p.Gln1098Pro) single nucleotide variant Pathogenic rs121912611 GRCh38 Chromosome 3, 165019732: 165019732
3 SI NM_001041.3(SI): c.1022T> C (p.Leu341Pro) single nucleotide variant Pathogenic rs267607049 GRCh37 Chromosome 3, 164777814: 164777814
4 SI NM_001041.3(SI): c.1022T> C (p.Leu341Pro) single nucleotide variant Pathogenic rs267607049 GRCh38 Chromosome 3, 165060026: 165060026
5 SI NM_001041.3(SI): c.350A> G (p.Gln117Arg) single nucleotide variant Pathogenic rs121912612 GRCh37 Chromosome 3, 164786889: 164786889
6 SI NM_001041.3(SI): c.350A> G (p.Gln117Arg) single nucleotide variant Pathogenic rs121912612 GRCh38 Chromosome 3, 165069101: 165069101
7 SI NM_001041.3(SI): c.1859T> C (p.Leu620Pro) single nucleotide variant Pathogenic rs121912613 GRCh37 Chromosome 3, 164764657: 164764657
8 SI NM_001041.3(SI): c.1859T> C (p.Leu620Pro) single nucleotide variant Pathogenic rs121912613 GRCh38 Chromosome 3, 165046869: 165046869
9 SI NM_001041.3(SI): c.3686G> A (p.Cys1229Tyr) single nucleotide variant Pathogenic rs121912614 GRCh37 Chromosome 3, 164735409: 164735409
10 SI NM_001041.3(SI): c.3686G> A (p.Cys1229Tyr) single nucleotide variant Pathogenic rs121912614 GRCh38 Chromosome 3, 165017621: 165017621
11 SI NM_001041.3(SI): c.3218G> A (p.Gly1073Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912616 GRCh37 Chromosome 3, 164739053: 164739053
12 SI NM_001041.3(SI): c.3218G> A (p.Gly1073Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912616 GRCh38 Chromosome 3, 165021265: 165021265
13 SI NM_001041.3(SI): c.*314delT deletion Likely benign rs145227457 GRCh38 Chromosome 3, 164979048: 164979048
14 SI NM_001041.3(SI): c.*314delT deletion Likely benign rs145227457 GRCh37 Chromosome 3, 164696836: 164696836
15 SI NM_001041.3(SI): c.*68T> C single nucleotide variant Likely benign rs73018867 GRCh38 Chromosome 3, 164979294: 164979294
16 SI NM_001041.3(SI): c.*68T> C single nucleotide variant Likely benign rs73018867 GRCh37 Chromosome 3, 164697082: 164697082
17 SI NM_001041.3(SI): c.5367T> C (p.Tyr1789=) single nucleotide variant Uncertain significance rs144206255 GRCh38 Chromosome 3, 164982291: 164982291
18 SI NM_001041.3(SI): c.5367T> C (p.Tyr1789=) single nucleotide variant Uncertain significance rs144206255 GRCh37 Chromosome 3, 164700079: 164700079
19 SI NM_001041.3(SI): c.5197+8C> T single nucleotide variant Likely benign rs6799858 GRCh38 Chromosome 3, 164987130: 164987130
20 SI NM_001041.3(SI): c.5197+8C> T single nucleotide variant Likely benign rs6799858 GRCh37 Chromosome 3, 164704918: 164704918
21 SI NM_001041.3(SI): c.4951G> A (p.Val1651Ile) single nucleotide variant Uncertain significance rs139876383 GRCh37 Chromosome 3, 164709997: 164709997
22 SI NM_001041.3(SI): c.4951G> A (p.Val1651Ile) single nucleotide variant Uncertain significance rs139876383 GRCh38 Chromosome 3, 164992209: 164992209
23 SI NM_001041.3(SI): c.4692+12C> T single nucleotide variant Uncertain significance rs199581970 GRCh38 Chromosome 3, 164996523: 164996523
24 SI NM_001041.3(SI): c.4692+12C> T single nucleotide variant Uncertain significance rs199581970 GRCh37 Chromosome 3, 164714311: 164714311
25 SI NM_001041.3(SI): c.4458G> A (p.Thr1486=) single nucleotide variant Uncertain significance rs140287192 GRCh38 Chromosome 3, 164998622: 164998622
26 SI NM_001041.3(SI): c.4458G> A (p.Thr1486=) single nucleotide variant Uncertain significance rs140287192 GRCh37 Chromosome 3, 164716410: 164716410
27 SI NM_001041.3(SI): c.4191G> A (p.Glu1397=) single nucleotide variant Uncertain significance rs886058141 GRCh38 Chromosome 3, 165007987: 165007987
28 SI NM_001041.3(SI): c.4191G> A (p.Glu1397=) single nucleotide variant Uncertain significance rs886058141 GRCh37 Chromosome 3, 164725775: 164725775
29 SI NM_001041.3(SI): c.4099A> G (p.Arg1367Gly) single nucleotide variant Uncertain significance rs143388292 GRCh37 Chromosome 3, 164727147: 164727147
30 SI NM_001041.3(SI): c.4099A> G (p.Arg1367Gly) single nucleotide variant Uncertain significance rs143388292 GRCh38 Chromosome 3, 165009359: 165009359
31 SI NM_001041.3(SI): c.4077T> C (p.His1359=) single nucleotide variant Uncertain significance rs886058142 GRCh38 Chromosome 3, 165009381: 165009381
32 SI NM_001041.3(SI): c.4077T> C (p.His1359=) single nucleotide variant Uncertain significance rs886058142 GRCh37 Chromosome 3, 164727169: 164727169
33 SI NM_001041.3(SI): c.4026A> G (p.Thr1342=) single nucleotide variant Likely benign rs74648160 GRCh37 Chromosome 3, 164730804: 164730804
34 SI NM_001041.3(SI): c.4026A> G (p.Thr1342=) single nucleotide variant Likely benign rs74648160 GRCh38 Chromosome 3, 165013016: 165013016
35 SI NM_001041.3(SI): c.3836C> T (p.Pro1279Leu) single nucleotide variant Uncertain significance rs886058143 GRCh37 Chromosome 3, 164733792: 164733792
36 SI NM_001041.3(SI): c.3836C> T (p.Pro1279Leu) single nucleotide variant Uncertain significance rs886058143 GRCh38 Chromosome 3, 165016004: 165016004
37 SI NM_001041.3(SI): c.3790G> A (p.Glu1264Lys) single nucleotide variant Uncertain significance rs886058144 GRCh37 Chromosome 3, 164733838: 164733838
38 SI NM_001041.3(SI): c.3790G> A (p.Glu1264Lys) single nucleotide variant Uncertain significance rs886058144 GRCh38 Chromosome 3, 165016050: 165016050
39 SI NM_001041.3(SI): c.3408A> C (p.Arg1136Ser) single nucleotide variant Uncertain significance rs138927818 GRCh38 Chromosome 3, 165019617: 165019617
40 SI NM_001041.3(SI): c.3408A> C (p.Arg1136Ser) single nucleotide variant Uncertain significance rs138927818 GRCh37 Chromosome 3, 164737405: 164737405
41 SI NM_001041.3(SI): c.3242G> A (p.Ser1081Asn) single nucleotide variant Uncertain significance rs376341511 GRCh38 Chromosome 3, 165021241: 165021241
42 SI NM_001041.3(SI): c.3242G> A (p.Ser1081Asn) single nucleotide variant Uncertain significance rs376341511 GRCh37 Chromosome 3, 164739029: 164739029
43 SI NM_001041.3(SI): c.2737-8delC deletion Uncertain significance rs886058145 GRCh38 Chromosome 3, 165030875: 165030875
44 SI NM_001041.3(SI): c.2737-8delC deletion Uncertain significance rs886058145 GRCh37 Chromosome 3, 164748663: 164748663
45 SI NM_001041.3(SI): c.2395A> G (p.Ile799Val) single nucleotide variant Uncertain significance rs150246328 GRCh38 Chromosome 3, 165037931: 165037931
46 SI NM_001041.3(SI): c.2395A> G (p.Ile799Val) single nucleotide variant Uncertain significance rs150246328 GRCh37 Chromosome 3, 164755719: 164755719
47 SI NM_001041.3(SI): c.1796C> T (p.Ala599Val) single nucleotide variant Uncertain significance rs747388124 GRCh38 Chromosome 3, 165046932: 165046932
48 SI NM_001041.3(SI): c.1796C> T (p.Ala599Val) single nucleotide variant Uncertain significance rs747388124 GRCh37 Chromosome 3, 164764720: 164764720
49 SI NM_001041.3(SI): c.1398+12T> C single nucleotide variant Uncertain significance rs115295826 GRCh38 Chromosome 3, 165058951: 165058951
50 SI NM_001041.3(SI): c.1398+12T> C single nucleotide variant Uncertain significance rs115295826 GRCh37 Chromosome 3, 164776739: 164776739

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:

37
# 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
17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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