CSID
MCID: SCR037
MIFTS: 49

Sucrase-Isomaltase Deficiency, Congenital (CSID)

Categories: Gastrointestinal diseases, Genetic diseases, Mental 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 57 20 13 44 39 71
Congenital Sucrase-Isomaltase Deficiency 12 20 43 58 73 36 15
Csid 57 12 20 43 58 73
Disaccharide Intolerance 12 58 54 71
Si Deficiency 57 12 20 43
Congenital Sucrose Intolerance 12 43 58
Sucrase-Isomaltase Deficiency 43 29 6
Disaccharide Intolerance I 57 43 73
Sucrose-Isomaltose Malabsorption, Congenital 57
Sucrose-Isomaltase Malabsorption, Congenital 20
Congenital Sucrase-Isomaltose Malabsorption 12
Congenital Sucrose-Isomaltase Malabsorption 20
Congenital Sucrose-Isomaltose Malabsorption 43
Sucrose Intolerance, Congenital 57
Sucrose Intolerance Congenital 20
Disaccharide Intolerance, 1 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
sucrase-isomaltase deficiency, congenital:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111633
OMIM® 57 222900
KEGG 36 H00115
MeSH 44 C538139
NCIt 50 C128190
SNOMED-CT 67 78373000
ICD10 32 E74.31
MESH via Orphanet 45 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

MedlinePlus Genetics : 43 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, kidney and liver, 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.

GARD : 20 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 all 47)
# Related Disease Score Top Affiliating Genes
1 diarrhea 30.7 SLC5A1 SI MGAM LCT
2 lactose intolerance 30.5 SI LCT
3 chylomicron retention disease 30.4 SLC5A1 LCT
4 protein-energy malnutrition 30.1 SI MGAM
5 inherited metabolic disorder 30.1 SI MGAM APOE
6 lactose intolerance, adult type 11.3
7 global disaccharide intolerance 11.2
8 irritable bowel syndrome 10.4
9 pneumatosis cystoides intestinalis 10.3 SI MGAM
10 barre-lieou syndrome 10.3 SI MGAM
11 hirata disease 10.3 SI MGAM
12 miliaria 10.3 SI MGAM
13 postgastrectomy syndrome 10.3 SI MGAM
14 acute laryngopharyngitis 10.3 SI MGAM
15 functional gastric disease 10.2 SI MGAM
16 parkinson disease 17 10.2 SI MGAM
17 nasopharyngitis 10.2 SI MGAM
18 lactase deficiency, congenital 10.2
19 autosomal recessive disease 10.2
20 congenital diarrhea 10.2
21 disseminated intravascular coagulation 10.2
22 nephrocalcinosis 10.2
23 hemangioma 10.2
24 intestinal disease 10.2
25 intestinal disaccharidase deficiency 10.2
26 glycogen storage disease ii 10.2 SI MGAM
27 glycogen storage disease iii 10.2 SI MGAM
28 mucopolysaccharidosis iv 10.2 SI MGAM
29 alkaptonuria 10.2
30 celiac disease 1 10.2
31 inflammatory bowel disease 10.2
32 overgrowth syndrome 10.2
33 mucopolysaccharidosis, type vi 10.2 SI MGAM
34 carbohydrate metabolic disorder 10.1 SI MGAM LCT
35 gastroenteritis 10.1
36 trigonitis 10.1 SLC5A1 SI MGAM
37 osmotic diarrhea 10.1 SLC5A1 MGAM LCT
38 diabetes mellitus, ketosis-prone 10.1 SLC5A1 SI MGAM
39 glucose metabolism disease 10.1 SI MGAM APOE
40 mucopolysaccharidosis, type ii 10.0 SI MGAM
41 acquired metabolic disease 10.0 SI MGAM APOE
42 migraine, familial hemiplegic, 1 10.0 SLC5A1 CTU2
43 chicken egg allergy 10.0 SLC5A1 SI MGAM LCT
44 acute diarrhea 10.0
45 aminoaciduria 10.0
46 spasmodic dysphonia 10.0
47 scheie syndrome 9.9 SI MGAM

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 very rare (1%) 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 abdominal pain 31 HP:0002027
7 nephrolithiasis 31 HP:0000787

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
malabsorption
diarrhea
disaccharide intolerance

Laboratory Abnormalities:
sucrase-isomerase deficiency

Genitourinary Kidneys:
renal calculi

Clinical features from OMIM®:

222900 (Updated 05-Mar-2021)

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 Cola Phase 4
5 Cathartics Phase 4
6 Gastrins Phase 4
7 Vasoactive intestinal peptide Phase 4 40077-57-4
8 calcitonin Phase 4
9 Katacalcin Phase 4
10 Laxatives 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 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, Kidney, Liver

Publications for Sucrase-Isomaltase Deficiency, Congenital

Articles related to Sucrase-Isomaltase Deficiency, Congenital:

(show top 50) (show all 116)
# Title Authors PMID Year
1
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 57 6 61
16329100 2006
2
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. 6 57 61
14724820 2003
3
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. 6 57 61
10903344 2000
4
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. 6 57
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. 57 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. 57 61
1717481 1991
7
Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucrase-isomaltase deficiency. 57
8648532 1996
8
Clinical heterogeneity in congenital sucrase-isomaltase deficiency. 57
8648527 1996
9
Congenital sucrase-isomaltase deficiency. 57
8576798 1995
10
Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme. 57
3403721 1988
11
Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. 57
3553946 1987
12
A study of the molecular pathology of sucrase-isomaltase deficiency. A defect in the intracellular processing of the enzyme. 57
3807985 1987
13
Primary sucrase-isomaltase deficiency: importance of clinical judgment. 57
2862366 1985
14
Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency. 57
3925457 1985
15
Sucrase-isomaltase (palatinase) deficiency diagnosed during adulthood. 57
7371476 1980
16
Sucrase-isomaltase deficiency. Absence of an inactive enzyme variant. 57
1256470 1976
17
Sucrase-isomaltase deficiency-a frequently misdiagnosed disease. 57
4742566 1973
18
Demonstration of an inactive enzyme antigen in sucrase-isomaltase deficiency. 57
4579420 1973
19
Dietary stimulation of sucrase in a patient with sucrase-isomaltase deficiency. 57
5075694 1972
20
Congenital sucrase-isomaltase deficiency. Observations over a period of 6 years. 57
5041318 1972
21
Sucrose malabsorption in Greenland. 57
5015965 1972
22
Intestinal sucrase-isomaltase deficiency and renal calculi. 57
5436545 1970
23
Sugar malabsorption due to deficiencies of disaccharidase activities and of monosaccharide transport. 57
4952790 1967
24
Disaccharide intolerance. 57
5333958 1967
25
Localization of the small-intestinal disaccharidases. 57
4164045 1967
26
Intestinal sucrase deficiency. 57
6082247 1967
27
Primary combined saccharase and isomaltase deficiency. Report of two adult siblings of consanguineous parentage. 57
5848222 1965
28
DEFECTS OF INTESTINAL DISACCHARIDE ABSORPTION. 57
14276572 1965
29
The Usefulness of Auditory Perceptual Assessment and Acoustic Analysis as a Screening Test for Voice Problems. 61
31805562 2021
30
Circulating Tumor Marker Isolation with the Chemically Stable and Instantly Degradable (CSID) Hydrogel ImmunoSpheres. 61
33337853 2021
31
Functional analysis of Cti6 core domain responsible for recruitment of epigenetic regulators Sin3, Cyc8 and Tup1. 61
32980916 2020
32
Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency. 61
33375084 2020
33
CSID: A Novel Multimodal Image Fusion Algorithm for Enhanced Clinical Diagnosis. 61
33167376 2020
34
Validation of Cepstral Acoustic Analysis for Normal and Pathological Voice in the Japanese Language. 61
32951954 2020
35
An exploratory model of speech intelligibility for healthy aging based on phonatory and articulatory measures. 61
32531515 2020
36
Predictors and prognoses of new onset post-stroke anxiety at one year in black Africans. 61
32807479 2020
37
Voice and Stroboscopic Characteristics in Transgender Patients Seeking Gender-Affirming Voice Care. 61
32750170 2020
38
Web-based study on Chinese dermatologists' attitudes towards artificial intelligence. 61
32617318 2020
39
Voice Outcomes After Radiation for Early-Stage Laryngeal Cancer. 61
30611594 2020
40
Fermentative Production of l-2-Hydroxyglutarate by Engineered Corynebacterium glutamicum via Pathway Extension of l-Lysine Biosynthesis. 61
33585425 2020
41
Hypomorphic SI genetic variants are associated with childhood chronic loose stools. 61
32433684 2020
42
Acoustic Psychometric Severity Index of Dysphonia (APSID): Development and Clinical Application. 61
31810840 2019
43
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency. 61
31557950 2019
44
Nutritional evaluation of two barley cultivars, without and with carbohydrase supplementation, for broilers: metabolisable energy and standardised amino acid digestibility. 61
30995865 2019
45
Regulation of Glutarate Catabolism by GntR Family Regulator CsiR and LysR Family Regulator GcdR in Pseudomonas putida KT2440. 61
31363033 2019
46
Congenital Segmental Intestinal Dilatation: A 25-Year Review with Long-Term Follow-up at the Medical University of Innsbruck, Austria. 61
31304051 2019
47
Massively Parallel Fitness Profiling Reveals Multiple Novel Enzymes in Pseudomonas putida Lysine Metabolism. 61
31064836 2019
48
Spectral/Cepstral Analyses of Phonation in Parkinson's Disease before and after Voice Treatment: A Preliminary Study. 61
31117110 2019
49
Seizure frequency and risk of cognitive impairment in people living with epilepsy in a sub-urban community in South Eastern Nigeria. 61
30446372 2019
50
Glutarate L-2-hydroxylase (CsiD/GlaH) is an archetype Fe(II)/2-oxoglutarate-dependent dioxygenase. 61
31564307 2019

Variations for Sucrase-Isomaltase Deficiency, Congenital

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

6 (show top 50) (show all 161)
# 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.5234T>G (p.Phe1745Cys) SNV Pathogenic 1417 rs79717168 3:164700803-164700803 3:164983015-164983015
7 SI NM_001041.4(SI):c.1730T>G (p.Val577Gly) SNV Pathogenic/Likely pathogenic 1418 rs121912615 3:164764786-164764786 3:165046998-165046998
8 SI NM_001041.4(SI):c.2159+2T>G SNV Likely pathogenic 517436 rs1553775177 3:164758726-164758726 3:165040938-165040938
9 SI NM_001041.4(SI):c.4825C>T (p.Arg1609Ter) SNV Likely pathogenic 984937 3:164712061-164712061 3:164994273-164994273
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.1919A>G (p.Glu640Gly) SNV Uncertain significance 976595 3:164760932-164760932 3:165043144-165043144
12 SI NC_000003.12:g.164978889C>T SNV Uncertain significance 900515 3:164696677-164696677 3:164978889-164978889
13 SI NM_001041.4(SI):c.2401G>T (p.Glu801Ter) SNV Uncertain significance 631912 rs200972419 3:164755713-164755713 3:165037925-165037925
14 SI NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) SNV Uncertain significance 802019 rs758043919 3:164716441-164716441 3:164998653-164998653
15 SI NM_001041.4(SI):c.1111G>A (p.Val371Met) SNV Uncertain significance 713782 rs138434001 3:164777725-164777725 3:165059937-165059937
16 SI NM_001041.4(SI):c.118+10A>G SNV Uncertain significance 344074 rs200646132 3:164793673-164793673 3:165075885-165075885
17 SI NM_001041.4(SI):c.4849G>C (p.Asp1617His) SNV Uncertain significance 899435 3:164710178-164710178 3:164992390-164992390
18 SI NM_001041.4(SI):c.4841+15T>A SNV Uncertain significance 899436 3:164712030-164712030 3:164994242-164994242
19 SI NM_001041.4(SI):c.4772C>A (p.Pro1591His) SNV Uncertain significance 899437 3:164712114-164712114 3:164994326-164994326
20 SI NM_001041.4(SI):c.3418C>G (p.Pro1140Ala) SNV Uncertain significance 899494 3:164737395-164737395 3:165019607-165019607
21 SI NM_001041.4(SI):c.3331A>G (p.Ile1111Val) SNV Uncertain significance 899495 3:164737482-164737482 3:165019694-165019694
22 SI NM_001041.4(SI):c.3309G>A (p.Ser1103=) SNV Uncertain significance 899496 3:164737504-164737504 3:165019716-165019716
23 SI NM_001041.4(SI):c.1654T>C (p.Trp552Arg) SNV Uncertain significance 899564 3:164766976-164766976 3:165049188-165049188
24 SI NM_001041.4(SI):c.636-14C>T SNV Uncertain significance 899642 3:164783234-164783234 3:165065446-165065446
25 SI NM_001041.4(SI):c.611T>C (p.Ile204Thr) SNV Uncertain significance 899643 3:164785152-164785152 3:165067364-165067364
26 SI NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs) Insertion Uncertain significance 631913 rs967166732 3:164760939-164760940 3:165043151-165043152
27 SI NM_001041.4(SI):c.1910T>G (p.Phe637Cys) SNV Uncertain significance 344047 rs886058147 3:164760941-164760941 3:165043153-165043153
28 SI NM_001041.4(SI):c.2395A>G (p.Ile799Val) SNV Uncertain significance 344044 rs150246328 3:164755719-164755719 3:165037931-165037931
29 SI NM_001041.4(SI):c.2381G>T (p.Gly794Val) SNV Uncertain significance 344045 rs886058146 3:164755733-164755733 3:165037945-165037945
30 SI NM_001041.4(SI):c.2510C>T (p.Thr837Ile) SNV Uncertain significance 976591 3:164754182-164754182 3:165036394-165036394
31 SI NM_001041.4(SI):c.2428C>A (p.Arg810Ser) SNV Uncertain significance 976592 3:164754264-164754264 3:165036476-165036476
32 SI NM_001041.4(SI):c.2320A>G (p.Arg774Gly) SNV Uncertain significance 976593 3:164755794-164755794 3:165038006-165038006
33 SI NM_001041.4(SI):c.*151A>G SNV Uncertain significance 900517 3:164696999-164696999 3:164979211-164979211
34 SI NM_001041.4(SI):c.*121C>T SNV Uncertain significance 900518 3:164697029-164697029 3:164979241-164979241
35 SI NM_001041.4(SI):c.4540+4A>G SNV Uncertain significance 900558 3:164716324-164716324 3:164998536-164998536
36 SI NM_001041.4(SI):c.4328T>C (p.Ile1443Thr) SNV Uncertain significance 900559 3:164724682-164724682 3:165006894-165006894
37 SI NM_001041.4(SI):c.3234G>A (p.Arg1078=) SNV Uncertain significance 900629 3:164739037-164739037 3:165021249-165021249
38 SI NM_001041.4(SI):c.2985A>G (p.Ile995Met) SNV Uncertain significance 900630 3:164741472-164741472 3:165023684-165023684
39 SI NM_001041.4(SI):c.2966G>A (p.Arg989His) SNV Uncertain significance 900631 3:164741491-164741491 3:165023703-165023703
40 SI NM_001041.4(SI):c.1544G>T (p.Gly515Val) SNV Uncertain significance 900704 3:164767632-164767632 3:165049844-165049844
41 SI NM_001041.4(SI):c.1278+11A>G SNV Uncertain significance 900705 3:164776945-164776945 3:165059157-165059157
42 SI NM_001041.4(SI):c.483+8T>G SNV Uncertain significance 900782 3:164786502-164786502 3:165068714-165068714
43 SI NM_001041.4(SI):c.453A>G (p.Gln151=) SNV Uncertain significance 900783 3:164786540-164786540 3:165068752-165068752
44 SI NM_001041.4(SI):c.373+11C>T SNV Uncertain significance 900784 3:164786855-164786855 3:165069067-165069067
45 SI NM_001041.4(SI):c.315G>T (p.Trp105Cys) SNV Uncertain significance 900785 3:164786924-164786924 3:165069136-165069136
46 SI NM_001041.4(SI):c.123T>C (p.Ile41=) SNV Uncertain significance 900786 3:164792451-164792451 3:165074663-165074663
47 SI NM_001041.4(SI):c.118+11C>T SNV Uncertain significance 900787 3:164793672-164793672 3:165075884-165075884
48 SI NM_001041.4(SI):c.5403C>T (p.Asp1801=) SNV Uncertain significance 902174 3:164700043-164700043 3:164982255-164982255
49 SI NM_001041.4(SI):c.5320G>A (p.Val1774Ile) SNV Uncertain significance 902175 3:164700126-164700126 3:164982338-164982338
50 SI NM_001041.4(SI):c.5319T>C (p.His1773=) SNV Uncertain significance 902176 3:164700127-164700127 3:164982339-164982339

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 8.92 SLC5A1 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 carbohydrate metabolic process GO:0005975 9.33 SI MGAM LCT
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 9.33 SI MGAM LCT
2 alpha-1,4-glucosidase activity GO:0004558 8.96 SI MGAM
3 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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