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TNK2 gene related symptoms and diseases

All the information presented here about the TNK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TNK2 gene

Symptoms // Phenotype % Cases
Respiratory distress Uncommon - Between 30% and 50% cases
Central apnea Uncommon - Between 30% and 50% cases
Abnormal respiratory system morphology Uncommon - Between 30% and 50% cases
Respiratory failure requiring assisted ventilation Uncommon - Between 30% and 50% cases
Pulmonary sequestration Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TNK2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 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 TNK2 gene

Here you will find a list of rare diseases related to the TNK2. 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

INFANTILE-ONSET MESIAL TEMPORAL LOBE EPILEPSY WITH SEVERE COGNITIVE REGRESSION

Description

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.


More info about INFANTILE-ONSET MESIAL TEMPORAL LOBE EPILEPSY WITH SEVERE COGNITIVE REGRESSION

SOURCES: ORPHANET


Potential gene panels for TNK2 gene

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6

More info about this panel
United States.

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel
United States.

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12

More info about this panel
United States.

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

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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