1. Mendelian
  2. Rare Disease Genes
  3. GGT1

GGT1 gene related symptoms and diseases

All the information presented here about the GGT1 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.

Table of contents:

Top 5 symptoms and clinical features associated to GGT1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Agenesis of corpus callosum Very Common - Between 80% and 100% cases
Hepatocellular carcinoma Very Common - Between 80% and 100% cases
Heterotopia Very Common - Between 80% and 100% cases
Aciduria Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GGT1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Asthma
  • Bruising susceptibility
  • Intellectual disability, moderate
  • Carcinoma
  • Acidosis
  • Abnormality of metabolism/homeostasis
  • Seizures
  • Intellectual disability, mild

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GGT1 gene

Here you will find a list of rare diseases related to the GGT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Alternate names

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria, gtg deficiency, ggt deficiency, gamma-glutamyltransferase deficiency, gamma-glutamyltranspeptidase deficiency

Description

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

Most common symptoms of GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

SOURCES: OMIM ORPHANET MESH


Potential gene panels for GGT1 gene

GGT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GGT1 gene.

More info about this panel
United States.

PancreasDx Panel

United States.

By Ariel Precision Medicine PancreasDx that also includes the following genes: SPINK1 SLC26A9 CASR UBR1 CEL CFTR SBDS CLDN2 CTRC GGT1

More info about this panel
United States.

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