1. Mendelian
  2. Rare Disease Genes
  3. POLR2K

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.

Table of contents:

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

SOURCES: ORPHANET OMIM

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


Potential gene panels for POLR2K gene

POLR2K Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POLR2K gene.

More info about this panel
United States.

If 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