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.
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
Search interest in AGGF1
Potential gene panels for AGGF1 gene
Klippel-Trenaunay-Weber syndrome (IVS11-1439C>G, I405I and E133K polymorphism, AGGF1 gene) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AGGF1 gene.
More info about this panelAGGF1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AGGF1 gene.
More info about this panelKLIPPEL-TRÉNAUNAY SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the AGGF1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OTX2 ERMARD