AGGF1 gene related symptoms and diseases

All the information presented here about the AGGF1 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 AGGF1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Prolonged bleeding time Very Common - Between 80% and 100% cases
Peripheral arteriovenous fistula Very Common - Between 80% and 100% cases
Internal hemorrhage Very Common - Between 80% and 100% cases
Upper limb asymmetry Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AGGF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal tricuspid valve morphology
  • Abnormality of the menstrual cycle
  • Abnormality of the pulmonary artery
  • Venous insufficiency
  • Lower limb asymmetry
  • Hypercoagulability
  • Abnormality of the skull
  • Pulmonary embolism

And 18 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AGGF1 gene

Here you will find a list of rare diseases related to the AGGF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KLIPPEL-TRÉNAUNAY SYNDROME


Most common symptoms of KLIPPEL-TRÉNAUNAY SYNDROME

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency


More info about KLIPPEL-TRÉNAUNAY SYNDROME

SOURCES: ORPHANET


Potential gene panels for AGGF1 gene

Klippel-Trenaunay-Weber syndrome (IVS11-1439C>G, I405I and E133K polymorphism, AGGF1 gene) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the AGGF1 gene.

More info about this panel

AGGF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AGGF1 gene.

More info about this panel

KLIPPEL-TRÉNAUNAY SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AGGF1 gene.

More info about this panel


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