1. Mendelian
  2. Rare Disease Genes
  3. SPOCK1

SPOCK1 gene related symptoms and diseases

All the information presented here about the SPOCK1 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.

Table of contents:

Top 5 symptoms and clinical features associated to SPOCK1 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 SPOCK1 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 SPOCK1 gene

Here you will find a list of rare diseases related to the SPOCK1. 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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TNFSF12 PGM3 CNTN6 AFF4 SLC4A1