1. Mendelian
  2. Rare Disease Genes
  3. KDM4C

KDM4C gene related symptoms and diseases

All the information presented here about the KDM4C 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.

Table of contents:

Top 5 symptoms and clinical features associated to KDM4C gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Respiratory distress Very Common - Between 80% and 100% cases
Blindness Very Common - Between 80% and 100% cases
Immunodeficiency Very Common - Between 80% and 100% cases
Hepatosplenomegaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KDM4C gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Skin rash
  • Shock
  • Encephalitis
  • Recurrent mycobacterial infections
  • Herpes simplex encephalitis

Rare diseases associated to KDM4C gene

Here you will find a list of rare diseases related to the KDM4C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS

Alternate names

SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive, stat1 deficiency, autosomal recessive, stat1 deficiency

Description

Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.

Most common symptoms of SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS

  • Seizures
  • Respiratory distress
  • Blindness
  • Immunodeficiency
  • Hepatosplenomegaly


More info about SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS

SOURCES: OMIM ORPHANET


Potential gene panels for KDM4C gene

KDM4C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KDM4C gene.

More info about this panel
United States.

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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