SI gene related symptoms and diseases
All the information presented here about the SI gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SI gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Growth delay | Rare - less than 30% cases |
| Failure to thrive | Rare - less than 30% cases |
| Vomiting | Rare - less than 30% cases |
| Diarrhea | Rare - less than 30% cases |
| Abnormality of metabolism/homeostasis | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with SI gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abdominal pain
- Irritability
- Malabsorption
- Abdominal distention
- Dehydration
- Nephrolithiasis
- Failure to thrive in infancy
- Malnutrition
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SI gene
Here you will find a list of rare diseases related to the SI. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID
Alternate names
SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital, disaccharide intolerance i, sucrose intolerance, congenital, si deficiency
Description
characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.
Most common symptoms of SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID
- Growth delay
- Failure to thrive
- Vomiting
- Diarrhea
- Abnormality of metabolism/homeostasis
More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH STARCH INTOLERANCE
Alternate names
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH STARCH INTOLERANCE Is also known as csid with starch intolerance, congenital sucrase-isomaltose malabsorption with starch intolerance, congenital sucrose intolerance with starch intolerance, disaccharide intolerance with starch intolerance
More info about CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH STARCH INTOLERANCE
SOURCES: ORPHANET
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH MINIMAL STARCH TOLERANCE
Alternate names
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH MINIMAL STARCH TOLERANCE Is also known as congenital sucrose intolerance with minimal starch tolerance, csid with minimal starch tolerance, disaccharide intolerance with minimal starch tolerance, congenital sucrase-isomaltose malabsorption with minimal starch tolerance
More info about CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH MINIMAL STARCH TOLERANCE
SOURCES: ORPHANET
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITHOUT STARCH INTOLERANCE
Alternate names
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITHOUT STARCH INTOLERANCE Is also known as csid without starch intolerance, disaccharide intolerance without starch intolerance, congenital sucrose intolerance without starch intolerance, congenital sucrase-isomaltose malabsorption without starch intolerance
More info about CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITHOUT STARCH INTOLERANCE
SOURCES: ORPHANET
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH STARCH AND LACTOSE INTOLERANCE
Alternate names
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH STARCH AND LACTOSE INTOLERANCE Is also known as congenital sucrose intolerance with starch and lactose intolerance, congenital sucrase-isomaltose malabsorption with starch and lactose intolerance, csid with starch and lactose intolerance, disaccharide intolerance with starch and lactose intolerance
More info about CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITH STARCH AND LACTOSE INTOLERANCE
SOURCES: ORPHANET
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITHOUT SUCROSE INTOLERANCE
Alternate names
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITHOUT SUCROSE INTOLERANCE Is also known as congenital sucrose-isomaltose malabsorption without sucrose intolerance, csid without sucrose intolerance, disaccharide intolerance without sucrose intolerance
More info about CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY WITHOUT SUCROSE INTOLERANCE
SOURCES: ORPHANET
Search interest in SI
Potential gene panels for SI gene
SI Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SI gene.
More info about this panel United States.
Congenital Diarrhea Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Disaccharide intolerance (sequence analysis of SI gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SI gene.
More info about this panel Portugal.
Disaccharide intolerance (deletion/duplication analysis of SI gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SI gene.
More info about this panel Portugal.
Disaccharide intolerance (deletion/duplication analysis of SI gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SI gene.
More info about this panel Portugal.
Sucrase-isomaltase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SI gene.
More info about this panel Germany.
SI Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SI gene.
More info about this panel United States.
Congenital Diarrhea Panel Panel
Finland.
By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Congenital Mono- and Disaccharide Disorders Panel Panel
Finland.
By Blueprint Genetics Congenital Mono- and Disaccharide Disorders Panel that also includes the following genes: SI SLC2A1 SLC2A2 SLC5A1 GALE GALK1 GALT ALDOB LCT
More info about this panel Finland.
Focus::MCL™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C
More info about this panel United States.
SUCRASE ISOMALTASE DEFICIENCY (CSID) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SI gene.
More info about this panel Spain.
Congenital Sucrase-Isomaltase Deficiency , Sequencing SI Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SI gene.
More info about this panel Spain.
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