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.
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
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
Search interest in TNK2
Potential gene panels for TNK2 gene
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel
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 panelComprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
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 panelEarly-Onset Epileptic Encephalopathy NGS Panel Panel
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 panelComprehensive Epilepsy NGS Panel Panel
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 panelTempus xO assay Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TPM1 REN CYP11B1 HIKESHI IGKC NEFH ECM1