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.
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 featuresPatients with SPOCK1 gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Skin rash
- 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
SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive, stat1 deficiency, autosomal recessive, stat1 deficiency
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
- Respiratory distress
More info about SUSCEPTIBILITY TO VIRAL AND MYCOBACTERIAL INFECTIONS