POLR2K gene related symptoms and diseases
All the information presented here about the POLR2K gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POLR2K gene
Symptoms // Phenotype | % Cases |
---|---|
Dyskinesia | Very Common - Between 80% and 100% cases |
Recurrent otitis media | Very Common - Between 80% and 100% cases |
Respiratory distress | Very Common - Between 80% and 100% cases |
Ciliary dyskinesia | Very Common - Between 80% and 100% cases |
Neonatal respiratory distress | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with POLR2K gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Situs inversus totalis
- Bronchiectasis
- Recurrent sinusitis
- Chronic bronchitis
Not very common - Between 30% and 50% cases
- Polysplenia
- Asplenia
- Duodenal atresia
- Communicating hydrocephalus
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POLR2K gene
Here you will find a list of rare diseases related to the POLR2K. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY CILIARY DYSKINESIA
Alternate names
PRIMARY CILIARY DYSKINESIA Is also known as ics, polynesian bronchiectasis, ciliary dyskinesia, primary, 1, with or without situs inversus, pcd, immotile cilia syndrome
Description
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).
Most common symptoms of PRIMARY CILIARY DYSKINESIA
- Hearing impairment
- Ventriculomegaly
- Respiratory distress
- Hydrocephalus
- Headache
More info about PRIMARY CILIARY DYSKINESIA
CILIARY DYSKINESIA, PRIMARY, 28; CILD28
Alternate names
CILIARY DYSKINESIA, PRIMARY, 28; CILD28 Is also known as ciliary dyskinesia, primary, 28, with or without situs inversus
Description
Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by Knowles et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).
Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 28; CILD28
- Respiratory distress
- Dyskinesia
- Recurrent otitis media
- Bronchiectasis
- Situs inversus totalis
More info about CILIARY DYSKINESIA, PRIMARY, 28; CILD28
SOURCES: OMIM
Search interest in POLR2K
Potential gene panels for POLR2K gene
POLR2K Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POLR2K gene.
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 SUCLA2 ZNF711 CACNA1F EFHC1 AUTS2 DHDDS NFIX