ZFHX2 gene related symptoms and diseases

All the information presented here about the ZFHX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZFHX2 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Fever Very Common - Between 80% and 100% cases
Headache Very Common - Between 80% and 100% cases
Hyporeflexia Very Common - Between 80% and 100% cases
Hyperhidrosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ZFHX2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Scarring
  • Hypohidrosis
  • Episodic fever
  • Pain insensitivity
  • Corneal scarring
  • Painless fractures due to injury
  • Decreased corneal reflex
  • Impaired thermal sensitivity

Rare diseases associated to ZFHX2 gene

Here you will find a list of rare diseases related to the ZFHX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

MARSILI SYNDROME; MARSIS Is also known as congenital analgesia, autosomal dominant, insensitivity to pain, congenital, autosomal dominant

Most common symptoms of MARSILI SYNDROME; MARSIS

  • Pain
  • Fever
  • Headache
  • Hyporeflexia
  • Hyperhidrosis



Potential gene panels for ZFHX2 gene

ZFHX2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZFHX2 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NSMF CPA6 NDUFV1 REN