Sucrase-isomaltase Deficiency, Congenital; Csid

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Sucrase-isomaltase Deficiency, Congenital; Csid

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Sucrase-isomaltase Deficiency, Congenital; Csid

Growth delay
Failure to thrive
Vomiting
Diarrhea
Abnormality of metabolism/homeostasis
Abdominal pain
Irritability
Malabsorption
Abdominal distention
Dehydration

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID have a estimated prevalence of 20 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Sucrase-isomaltase Deficiency, Congenital; Csid Is also known as sucrose-isomaltose malabsorption, congenital, disaccharide intolerance i, sucrose intolerance, congenital, si deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sucrase-isomaltase Deficiency, Congenital; Csid Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SI Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SI Specificity 100 % Genes 100 %
Congenital Diarrhea Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 5 % Genes 100 %
Congenital Diarrhea Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 5 % Genes 100 %
Congenital Diarrhea Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 5 % Genes 100 %
Disaccharide intolerance (sequence analysis of SI gene). By CGC Genetics (Portugal). SI Specificity 100 % Genes 100 %
Disaccharide intolerance (deletion/duplication analysis of SI gene). By CGC Genetics (Portugal). SI Specificity 100 % Genes 100 %
Disaccharide intolerance (deletion/duplication analysis of SI gene). By CGC Genetics (Portugal). SI Specificity 100 % Genes 100 %
Sucrase-isomaltase deficiency. By Centogene AG - the Rare Disease Company (Germany). SI Specificity 100 % Genes 100 %

You can get up to 7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME; SSMS MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5 IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN ACROCAPITOFEMORAL DYSPLASIA; ACFD