DGAT1 gene related symptoms and diseases

All the information presented here about the DGAT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DGAT1 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Vomiting Very Common - Between 80% and 100% cases
Diarrhea Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases
Metabolic acidosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DGAT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sepsis
  • Hyperlipidemia
  • Abnormal intestine morphology
  • Hypercholesterolemia
  • Hypoalbuminemia
  • Hyponatremia
  • Malnutrition
  • Villous atrophy

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DGAT1 gene

Here you will find a list of rare diseases related to the DGAT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Alternate names

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Description

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

Most common symptoms of CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

SOURCES: OMIM ORPHANET


Potential gene panels for DGAT1 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
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.

DGAT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DGAT1 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.

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