GZF1 gene related symptoms and diseases

All the information presented here about the GZF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GZF1 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Talipes Very Common - Between 80% and 100% cases
Multiple joint dislocation Very Common - Between 80% and 100% cases
Bilateral talipes equinovarus Very Common - Between 80% and 100% cases
Chorioretinal coloboma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GZF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Progressive hearing impairment
  • Joint dislocation
  • High myopia
  • Retinal detachment
  • Iris coloboma
  • Pectus carinatum
  • Hearing impairment
  • Coloboma

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GZF1 gene

Here you will find a list of rare diseases related to the GZF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM


Most common symptoms of JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Myopia
  • Talipes equinovarus


More info about JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM

SOURCES: OMIM


Potential gene panels for GZF1 gene

Desbuquois dysplasia and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Deletion / Duplication panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel

Desbuquois dysplasia and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders NGS panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel

Desbuquois dysplasia and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Comprehensive panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel

GZF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GZF1 gene.

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 SGCE NIPA1 TRIP13 MAGI2 MST1

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