CSID
MCID: SCR037
MIFTS: 50

Sucrase-Isomaltase Deficiency, Congenital (CSID)

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

Aliases & Classifications for Sucrase-Isomaltase Deficiency, Congenital

MalaCards integrated aliases for Sucrase-Isomaltase Deficiency, Congenital:

Name: Sucrase-Isomaltase Deficiency, Congenital 56 52 13 43 39 71
Congenital Sucrase-Isomaltase Deficiency 12 52 25 58 73 36 15
Csid 56 12 52 25 58 73
Disaccharide Intolerance 12 58 54 71
Si Deficiency 56 12 52 25
Congenital Sucrose Intolerance 12 25 58
Sucrase-Isomaltase Deficiency 25 29 6
Disaccharide Intolerance I 56 25 73
Congenital Sucrase-Isomaltose Malabsorption 12 58
Sucrose-Isomaltose Malabsorption, Congenital 56
Sucrose-Isomaltase Malabsorption, Congenital 52
Congenital Sucrose-Isomaltase Malabsorption 52
Congenital Sucrose-Isomaltose Malabsorption 25
Sucrose Intolerance, Congenital 56
Sucrose Intolerance Congenital 52
Disaccharide Intolerance, 1 52

Characteristics:

Orphanet epidemiological data:

58
congenital sucrase-isomaltase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111633
OMIM 56 222900
KEGG 36 H00115
MeSH 43 C538139
NCIt 49 C128190
SNOMED-CT 67 360854006
ICD10 32 E74.31
MESH via Orphanet 44 C538139
ICD10 via Orphanet 33 E74.3
UMLS via Orphanet 72 C1283620
Orphanet 58 ORPHA35122
MedGen 41 C1283620
UMLS 71 C0239189 C1283620

Summaries for Sucrase-Isomaltase Deficiency, Congenital

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). Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts 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 gain weight and grow at the expected rate (failure to thrive) and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older.

MalaCards based summary : Sucrase-Isomaltase Deficiency, Congenital, also known as congenital sucrase-isomaltase deficiency, is related to diarrhea and lactose intolerance. An important gene associated with Sucrase-Isomaltase Deficiency, Congenital is SI (Sucrase-Isomaltase), and among its related pathways/superpathways are Starch and sucrose metabolism and Glycosaminoglycan metabolism. The drugs Salmon calcitonin and Lactulose have been mentioned in the context of this disorder. Affiliated tissues include small intestine, testes and kidney, and related phenotypes are diarrhea and vomiting

Disease Ontology : 12 A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has material basis in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.

NIH Rare Diseases : 52 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 .

KEGG : 36 Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which... more...

More information from OMIM: 222900

Related Diseases for Sucrase-Isomaltase Deficiency, Congenital

Diseases related to Sucrase-Isomaltase Deficiency, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 diarrhea 31.1 SLC5A1 SI MGAM LCT
2 lactose intolerance 30.5 SI LCT
3 chylomicron retention disease 30.3 SLC5A1 LCT
4 inherited metabolic disorder 30.2 SI MGAM APOE
5 global disaccharide intolerance 12.5
6 lactose intolerance, adult type 11.6
7 congenital sucrase-isomaltase deficiency with starch intolerance 11.2
8 congenital sucrase-isomaltase deficiency without starch intolerance 11.2
9 congenital sucrase-isomaltase deficiency with minimal starch tolerance 11.2
10 congenital sucrase-isomaltase deficiency with starch and lactose intolerance 11.2
11 congenital sucrase-isomaltase deficiency without sucrose intolerance 11.2
12 pneumatosis cystoides intestinalis 10.4 SI MGAM
13 hirata disease 10.4 SI MGAM
14 lactase deficiency, congenital 10.4
15 autosomal recessive disease 10.4
16 congenital diarrhea 10.4
17 disseminated intravascular coagulation 10.4
18 nephrocalcinosis 10.4
19 hemangioma 10.4
20 intestinal disease 10.4
21 irritable bowel syndrome 10.4
22 intestinal disaccharidase deficiency 10.4
23 miliaria 10.4 SI MGAM
24 alkaptonuria 10.4
25 celiac disease 1 10.4
26 overgrowth syndrome 10.4
27 liver cirrhosis 10.4
28 postgastrectomy syndrome 10.4 SI MGAM
29 barre-lieou syndrome 10.3 SI MGAM
30 gerstmann syndrome 10.3 APOE ADAMTS2
31 simultanagnosia 10.3 APOE ADAMTS2
32 functional gastric disease 10.3 SI MGAM
33 visual agnosia 10.3 APOE ADAMTS2
34 parkinson disease 17 10.3 SI MGAM
35 anosognosia 10.3 APOE ADAMTS2
36 glycogen storage disease ii 10.3 SI MGAM
37 nominal aphasia 10.3 APOE ADAMTS2
38 glycogen storage disease iii 10.3 SI MGAM
39 spasmodic dysphonia 10.3
40 cystic fibrosis 10.3
41 dumping syndrome 10.2 SI MGAM
42 carbohydrate metabolic disorder 10.2 SI MGAM LCT
43 nasopharyngitis 10.2 SI MGAM
44 communicating hydrocephalus 10.2 APOE ADAMTS2
45 gastroenteritis 10.2
46 diabetes mellitus, ketosis-prone 10.2 SLC5A1 SI MGAM
47 osmotic diarrhea 10.2 SLC5A1 MGAM LCT
48 glucose metabolism disease 10.1 SI MGAM APOE
49 mucopolysaccharidosis, type vi 10.0 SI MGAM
50 immune deficiency disease 10.0

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

Human phenotypes related to Sucrase-Isomaltase Deficiency, Congenital:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
2 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
3 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
4 abdominal colic 58 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

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
malabsorption
diarrhea
disaccharide intolerance

Laboratory Abnormalities:
sucrase-isomerase deficiency

Genitourinary Kidneys:
renal calculi

Clinical features from OMIM:

222900

Drugs & Therapeutics for Sucrase-Isomaltase Deficiency, Congenital

Drugs for Sucrase-Isomaltase Deficiency, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
2
Lactulose Approved Phase 4 4618-18-2 11333
3
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
4 Laxatives Phase 4
5 Cathartics Phase 4
6 Cola Phase 4
7 Vasoactive intestinal peptide Phase 4 40077-57-4
8 Gastrins Phase 4
9 calcitonin Phase 4
10 Katacalcin Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Yield of Diagnostic Tests and Management of Crofelemer for Chronic Idiopathic Diarrhea In Non-HIV Patients: A Pilot Study Not yet recruiting NCT03898856 Phase 4 Crofelemer
2 A Multicenter, Double-Blind, Placebo-Controlled 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
3 A Multi-Center Study of the Prevalence of Known Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Variants and Functional Sucrase Activity by 13C-Sucrose Breath Test in Children With Chronic Diarrhea or Chronic Abdominal Pain Completed NCT01914003

Search NIH Clinical Center for Sucrase-Isomaltase Deficiency, Congenital

Cochrane evidence based reviews: 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:

40
Small Intestine, Testes, Kidney, Liver

Publications for Sucrase-Isomaltase Deficiency, Congenital

Articles related to Sucrase-Isomaltase Deficiency, Congenital:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 56 61 6
16329100 2006
2
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. 61 6 56
14724820 2003
3
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. 61 56 6
10903344 2000
4
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. 6 56
11340066 2001
5
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. 56 6
8609217 1996
6
Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit. 56 61
1717481 1991
7
Clinical heterogeneity in congenital sucrase-isomaltase deficiency. 56
8648527 1996
8
Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucrase-isomaltase deficiency. 56
8648532 1996
9
Congenital sucrase-isomaltase deficiency. 56
8576798 1995
10
Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme. 56
3403721 1988
11
Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. 56
3553946 1987
12
A study of the molecular pathology of sucrase-isomaltase deficiency. A defect in the intracellular processing of the enzyme. 56
3807985 1987
13
Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency. 56
3925457 1985
14
Primary sucrase-isomaltase deficiency: importance of clinical judgment. 56
2862366 1985
15
Sucrase-isomaltase (palatinase) deficiency diagnosed during adulthood. 56
7371476 1980
16
Sucrase-isomaltase deficiency. Absence of an inactive enzyme variant. 56
1256470 1976
17
Sucrase-isomaltase deficiency-a frequently misdiagnosed disease. 56
4742566 1973
18
Demonstration of an inactive enzyme antigen in sucrase-isomaltase deficiency. 56
4579420 1973
19
Dietary stimulation of sucrase in a patient with sucrase-isomaltase deficiency. 56
5075694 1972
20
Congenital sucrase-isomaltase deficiency. Observations over a period of 6 years. 56
5041318 1972
21
Sucrose malabsorption in Greenland. 56
5015965 1972
22
Intestinal sucrase-isomaltase deficiency and renal calculi. 56
5436545 1970
23
Sugar malabsorption due to deficiencies of disaccharidase activities and of monosaccharide transport. 56
4952790 1967
24
Localization of the small-intestinal disaccharidases. 56
4164045 1967
25
Disaccharide intolerance. 56
5333958 1967
26
Intestinal sucrase deficiency. 56
6082247 1967
27
Primary combined saccharase and isomaltase deficiency. Report of two adult siblings of consanguineous parentage. 56
5848222 1965
28
DEFECTS OF INTESTINAL DISACCHARIDE ABSORPTION. 56
14276572 1965
29
Voice Outcomes After Radiation for Early-Stage Laryngeal Cancer. 61
30611594 2020
30
An exploratory model of speech intelligibility for healthy aging based on phonatory and articulatory measures. 61
32531515 2020
31
Hypomorphic SI genetic variants are associated with childhood chronic loose stools. 61
32433684 2020
32
The Usefulness of Auditory Perceptual Assessment and Acoustic Analysis as a Screening Test for Voice Problems. 61
31805562 2019
33
Acoustic Psychometric Severity Index of Dysphonia (APSID): Development and Clinical Application. 61
31810840 2019
34
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency. 61
31557950 2019
35
Nutritional evaluation of two barley cultivars, without and with carbohydrase supplementation, for broilers: metabolisable energy and standardised amino acid digestibility. 61
30995865 2019
36
Regulation of Glutarate Catabolism by GntR Family Regulator CsiR and LysR Family Regulator GcdR in Pseudomonas putida KT2440. 61
31363033 2019
37
Congenital Segmental Intestinal Dilatation: A 25-Year Review with Long-Term Follow-up at the Medical University of Innsbruck, Austria. 61
31304051 2019
38
Massively Parallel Fitness Profiling Reveals Multiple Novel Enzymes in Pseudomonas putida Lysine Metabolism. 61
31064836 2019
39
Self-Reported Personality Traits and Informant-Rated Cognition: A 10-Year Prospective Study. 61
31561364 2019
40
Seizure frequency and risk of cognitive impairment in people living with epilepsy in a sub-urban community in South Eastern Nigeria. 61
30446372 2019
41
Spectral/Cepstral Analyses of Phonation in Parkinson's Disease before and after Voice Treatment: A Preliminary Study. 61
31117110 2019
42
Glutarate L-2-hydroxylase (CsiD/GlaH) is an archetype Fe(II)/2-oxoglutarate-dependent dioxygenase. 61
31564307 2019
43
Widespread bacterial lysine degradation proceeding via glutarate and L-2-hydroxyglutarate. 61
30498244 2018
44
Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients. 61
29408290 2018
45
Comparison of Two Multiparameter Acoustic Indices of Dysphonia Severity: The Acoustic Voice Quality Index and Cepstral Spectral Index of Dysphonia. 61
28739333 2018
46
13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency. 61
29762381 2018
47
Increased glutarate production by blocking the glutaryl-CoA dehydrogenation pathway and a catabolic pathway involving L-2-hydroxyglutarate. 61
29844506 2018
48
An Examination of Pre- and Posttreatment Acoustic Versus Auditory Perceptual Analyses of Voice Across Four Common Voice Disorders. 61
28688672 2018
49
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. 61
27872184 2018
50
A closed system irrigation & drainage technique for surgical evacuation of chronic subdural haematomas. 61
29904602 2018

Variations for Sucrase-Isomaltase Deficiency, Congenital

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

6 (show top 50) (show all 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SI NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)SNV Pathogenic 1412 rs121912611 3:164737520-164737520 3:165019732-165019732
2 SI NM_001041.4(SI):c.1022T>C (p.Leu341Pro)SNV Pathogenic 1413 rs267607049 3:164777814-164777814 3:165060026-165060026
3 SI NM_001041.4(SI):c.350A>G (p.Gln117Arg)SNV Pathogenic 1414 rs121912612 3:164786889-164786889 3:165069101-165069101
4 SI NM_001041.4(SI):c.1859T>C (p.Leu620Pro)SNV Pathogenic 1415 rs121912613 3:164764657-164764657 3:165046869-165046869
5 SI NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)SNV Pathogenic 1416 rs121912614 3:164735409-164735409 3:165017621-165017621
6 SI NM_001041.4(SI):c.1730T>G (p.Val577Gly)SNV Pathogenic/Likely pathogenic 1418 rs121912615 3:164764786-164764786 3:165046998-165046998
7 SI NM_001041.4(SI):c.2159+2T>GSNV Likely pathogenic 517436 rs1553775177 3:164758726-164758726 3:165040938-165040938
8 SI NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)deletion Conflicting interpretations of pathogenicity 418676 rs776569472 3:164739084-164739085 3:165021296-165021297
9 SI NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)SNV Conflicting interpretations of pathogenicity 1417 rs79717168 3:164700803-164700803 3:164983015-164983015
10 SI NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)SNV Conflicting interpretations of pathogenicity 1419 rs121912616 3:164739053-164739053 3:165021265-165021265
11 SI NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)SNV Conflicting interpretations of pathogenicity 265618 rs779803851 3:164705013-164705013 3:164987225-164987225
12 SI NM_001041.4(SI):c.1111G>A (p.Val371Met)SNV Conflicting interpretations of pathogenicity 713782 3:164777725-164777725 3:165059937-165059937
13 SI NM_001041.4(SI):c.2395A>G (p.Ile799Val)SNV Conflicting interpretations of pathogenicity 344044 rs150246328 3:164755719-164755719 3:165037931-165037931
14 SI NM_001041.4(SI):c.2923T>C (p.Tyr975His)SNV Conflicting interpretations of pathogenicity 344034 rs146785675 3:164741534-164741534 3:165023746-165023746
15 SI NM_001041.4(SI):c.118+10A>GSNV Conflicting interpretations of pathogenicity 344074 rs200646132 3:164793673-164793673 3:165075885-165075885
16 SI NM_001041.4(SI):c.16T>C (p.Phe6Leu)SNV Uncertain significance 344076 rs886058151 3:164793785-164793785 3:165075997-165075997
17 SI NM_001041.4(SI):c.1311T>C (p.Asn437=)SNV Uncertain significance 344057 rs886058149 3:164776838-164776838 3:165059050-165059050
18 SI NM_001041.4(SI):c.808-14T>ASNV Uncertain significance 344063 rs762854920 3:164781343-164781343 3:165063555-165063555
19 SI NM_001041.4(SI):c.636-14_636-10deldeletion Uncertain significance 344067 rs886058150 3:164783230-164783234 3:165065442-165065446
20 SI NM_001041.4(SI):c.2566-11A>GSNV Uncertain significance 344043 rs747570138 3:164750491-164750491 3:165032703-165032703
21 SI NM_001041.4(SI):c.4209T>C (p.Asn1403=)SNV Uncertain significance 344014 rs113826825 3:164725757-164725757 3:165007969-165007969
22 SI NM_001041.4(SI):c.3995C>A (p.Ala1332Glu)SNV Uncertain significance 344022 rs747041492 3:164732915-164732915 3:165015127-165015127
23 SI NM_001041.4(SI):c.3781G>A (p.Asp1261Asn)SNV Uncertain significance 344025 rs149783130 3:164733847-164733847 3:165016059-165016059
24 SI NM_001041.4(SI):c.3540T>C (p.Thr1180=)SNV Uncertain significance 344027 rs759754319 3:164735642-164735642 3:165017854-165017854
25 SI NM_001041.4(SI):c.2789A>G (p.Gln930Arg)SNV Uncertain significance 344037 rs150927256 3:164748603-164748603 3:165030815-165030815
26 SI NM_001041.4(SI):c.2599T>C (p.Tyr867His)SNV Uncertain significance 344042 rs140230726 3:164750447-164750447 3:165032659-165032659
27 SI NM_001041.4(SI):c.2381G>T (p.Gly794Val)SNV Uncertain significance 344045 rs886058146 3:164755733-164755733 3:165037945-165037945
28 SI NM_001041.4(SI):c.1910T>G (p.Phe637Cys)SNV Uncertain significance 344047 rs886058147 3:164760941-164760941 3:165043153-165043153
29 SI NM_001041.4(SI):c.1716-13G>ASNV Uncertain significance 344050 rs112259253 3:164764813-164764813 3:165047025-165047025
30 SI NM_001041.4(SI):c.1715+8C>ASNV Uncertain significance 344052 rs373673328 3:164766907-164766907 3:165049119-165049119
31 SI NM_001041.4(SI):c.1106A>G (p.Lys369Arg)SNV Uncertain significance 344060 rs756534501 3:164777730-164777730 3:165059942-165059942
32 SI NM_001041.4(SI):c.4793A>T (p.His1598Leu)SNV Uncertain significance 344007 rs562705407 3:164712093-164712093 3:164994305-164994305
33 SI NM_001041.4(SI):c.4062+11C>TSNV Uncertain significance 344019 rs747768310 3:164730757-164730757 3:165012969-165012969
34 SI NM_001041.4(SI):c.3424-12T>CSNV Uncertain significance 344028 rs77749967 3:164735866-164735866 3:165018078-165018078
35 SI NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)SNV Uncertain significance 344033 rs756776020 3:164741402-164741402 3:165023614-165023614
36 SI NM_001041.4(SI):c.2892G>A (p.Thr964=)SNV Uncertain significance 344035 rs145486890 3:164748500-164748500 3:165030712-165030712
37 SI NM_001041.4(SI):c.2737-23_2737-22dupduplication Uncertain significance 344041 rs11452619 3:164748665-164748666 3:165030877-165030878
38 SI NM_001041.4(SI):c.2159+12G>ASNV Uncertain significance 344046 rs376831754 3:164758716-164758716 3:165040928-165040928
39 SI NM_001041.4(SI):c.1715+14C>ASNV Uncertain significance 344051 rs867982218 3:164766901-164766901 3:165049113-165049113
40 SI NM_001041.4(SI):c.1616T>C (p.Met539Thr)SNV Uncertain significance 344053 rs749835475 3:164767014-164767014 3:165049226-165049226
41 SI NM_001041.4(SI):c.1212G>A (p.Ala404=)SNV Uncertain significance 344058 rs142838612 3:164777022-164777022 3:165059234-165059234
42 SI NM_001041.4(SI):c.952G>A (p.Gly318Ser)SNV Uncertain significance 344062 rs749095854 3:164780227-164780227 3:165062439-165062439
43 SI NM_001041.4(SI):c.627T>C (p.Gly209=)SNV Uncertain significance 344069 rs370540330 3:164785136-164785136 3:165067348-165067348
44 SI NM_001041.4(SI):c.*229T>CSNV Uncertain significance 343996 rs886058140 3:164696921-164696921 3:164979133-164979133
45 SI NM_001041.4(SI):c.*217A>CSNV Uncertain significance 343997 rs577252976 3:164696933-164696933 3:164979145-164979145
46 SI NM_001041.4(SI):c.5108+13T>CSNV Uncertain significance 344002 rs535082142 3:164709128-164709128 3:164991340-164991340
47 SI NM_001041.4(SI):c.4873T>G (p.Phe1625Val)SNV Uncertain significance 344004 rs149414344 3:164710154-164710154 3:164992366-164992366
48 SI NM_001041.4(SI):c.4239C>T (p.Asp1413=)SNV Uncertain significance 344013 rs138374817 3:164725727-164725727 3:165007939-165007939
49 SI NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)SNV Uncertain significance 344015 rs574552408 3:164725763-164725763 3:165007975-165007975
50 SI NM_001041.4(SI):c.556T>C (p.Ser186Pro)SNV Uncertain significance 344071 rs142447888 3:164785207-164785207 3:165067419-165067419

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

73 (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

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

Cellular components related to Sucrase-Isomaltase Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.02 SLC5A1 SLC34A2 SI MGAM LCT

Biological processes related to Sucrase-Isomaltase Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.33 SLC34A2 L2HGDH APOE
2 metabolic process GO:0008152 9.13 SI MGAM LCT
3 polysaccharide digestion GO:0044245 8.8 SI MGAM LCT

Molecular functions related to Sucrase-Isomaltase Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 SI MGAM LCT
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.8 SI MGAM LCT

Sources for Sucrase-Isomaltase Deficiency, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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