GUCY2C gene related symptoms and diseases

All the information presented here about the GUCY2C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GUCY2C gene

Symptoms // Phenotype % Cases
Diarrhea Very Common - Between 80% and 100% cases
Chronic diarrhea Very Common - Between 80% and 100% cases
Intestinal obstruction Very Common - Between 80% and 100% cases
Acidosis Uncommon - Between 30% and 50% cases
Volvulus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GUCY2C gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Esophagitis
  • Inflammation of the large intestine
  • Dehydration
  • Metabolic acidosis
  • Irritability
  • Hernia
  • Abdominal pain
  • Sepsis

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to GUCY2C gene

Here you will find a list of rare diseases related to the GUCY2C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY


Alternate names

INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY Is also known as meconium ileus due to guanylate cyclase 2c deficiency

Description

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.

Most common symptoms of INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY

  • Diarrhea
  • Sepsis
  • Chronic diarrhea
  • Intestinal obstruction
  • Malnutrition


More info about INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY

SOURCES: ORPHANET OMIM

CHRONIC DIARRHEA DUE TO GUANYLATE CYCLASE 2C OVERACTIVITY


Description

Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (OMIM ).

Most common symptoms of CHRONIC DIARRHEA DUE TO GUANYLATE CYCLASE 2C OVERACTIVITY

  • Pain
  • Diarrhea
  • Hernia
  • Abdominal pain
  • Acidosis


More info about CHRONIC DIARRHEA DUE TO GUANYLATE CYCLASE 2C OVERACTIVITY

SOURCES: ORPHANET OMIM


Potential gene panels for GUCY2C gene

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

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

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

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Meconium ileus Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GUCY2C gene.

More info about this panel

Diarrhea type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GUCY2C gene.

More info about this panel

GUCY2C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GUCY2C gene.

More info about this panel

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

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MIR3681HG MTHFR GAREM2 ANGPTL6

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more