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  2. Rare Disease Genes
  3. STXBP5

STXBP5 gene related symptoms and diseases

All the information presented here about the STXBP5 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 STXBP5 gene

Symptoms // Phenotype % Cases
Respiratory distress Very Common - Between 80% and 100% cases
Central apnea Very Common - Between 80% and 100% cases
Abnormal respiratory system morphology Very Common - Between 80% and 100% cases
Respiratory failure requiring assisted ventilation Very Common - Between 80% and 100% cases
Pulmonary sequestration Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with STXBP5 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Tracheobronchomalacia
  • Functional respiratory abnormality
  • Diaphragmatic paralysis
  • Right ventricular failure
  • Atelectasis
  • Chronic lung disease
  • Dyspnea
  • Right ventricular hypertrophy

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

Rare diseases associated to STXBP5 gene

Here you will find a list of rare diseases related to the STXBP5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BRONCHOPULMONARY DYSPLASIA

Alternate names

BRONCHOPULMONARY DYSPLASIA Is also known as bpd

Description

Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.

Most common symptoms of BRONCHOPULMONARY DYSPLASIA

  • Respiratory distress
  • Dyspnea
  • Cough
  • Small for gestational age
  • Sleep disturbance


More info about BRONCHOPULMONARY DYSPLASIA

SOURCES: MESH ORPHANET


Potential gene panels for STXBP5 gene

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel
United States.

STXBP5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STXBP5 gene.

More info about this panel
United States.

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