KCNJ18 gene related symptoms and diseases
All the information presented here about the KCNJ18 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNJ18 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Paralysis | Very Common - Between 80% and 100% cases |
| Periodic paralysis | Very Common - Between 80% and 100% cases |
| Hypokalemia | Very Common - Between 80% and 100% cases |
| Goiter | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KCNJ18 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Palpitations
- Tachycardia
- Hyperthyroidism
Not very common - Between 30% and 50% cases
- Weight loss
- Periodic hypokalemic paresis
- Abnormality of peripheral nerve conduction
- Urinary retention
- Hyperreflexia
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNJ18 gene
Here you will find a list of rare diseases related to the KCNJ18. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THYROTOXIC PERIODIC PARALYSIS
Alternate names
THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis
Description
Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
Most common symptoms of THYROTOXIC PERIODIC PARALYSIS
- Muscle weakness
- Hypertension
- Hyperreflexia
- Tremor
- Obesity
More info about THYROTOXIC PERIODIC PARALYSIS
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2
Most common symptoms of THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2
- Muscle weakness
- Paralysis
- Tachycardia
- Palpitations
- Goiter
More info about THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2
SOURCES: OMIM
Search interest in KCNJ18
Potential gene panels for KCNJ18 gene
KCNJ18 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the KCNJ18 gene.
More info about this panel United States.
KCNJ18. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KCNJ18 gene.
More info about this panel Spain.
Thyrotoxic periodic paralysis type 2 (sequence analysis of KCNJ18 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNJ18 gene.
More info about this panel Portugal.
Non-dystrophic myotonias (NGS panel for 11 genes) Panel
Portugal.
By CGC Genetics Non-dystrophic myotonias (NGS panel for 11 genes) that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panel Portugal.
Thyrotoxic periodic paralysis type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KCNJ18 gene.
More info about this panel Germany.
Bartter Syndrome incl. differential diagnosis Panel Panel
Germany.
By CeGaT GmbH Bartter Syndrome incl. differential diagnosis Panel that also includes the following genes: SCN4A CACNA1S KCNJ18 KCNE3 KCNJ2 KCNJ5
More info about this panel Germany.
Hypokalemic periodic Paralysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypokalemic periodic Paralysis that also includes the following genes: SCN4A CACNA1S KCNJ18
More info about this panel Spain.
Non-dystrophic myotonias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Non-dystrophic myotonias that also includes the following genes: SCN4A CACNA1A CACNA1S CAV3 CLCN1 KCNJ18 HINT1 HSPG2 KCNA1 KCNE3
More info about this panel Spain.
PERIODIC PARALYSIS, HYPOKALEMIC Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC PARALYSIS, HYPOKALEMIC that also includes the following genes: SCN4A CACNA1S KCNJ18 KCNJ2
More info about this panel Spain.
PERIODIC PARALYSIS, THYROTOXIC Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC PARALYSIS, THYROTOXIC that also includes the following genes: CACNA1S KCNJ18
More info about this panel Spain.
Hypokalemic Periodic Paralysis , Sequencing KCNJ18 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KCNJ18 gene.
More info about this panel Spain.
Hypokalemic Periodic Paralysis: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hypokalemic Periodic Paralysis: gene sequencing panel that also includes the following genes: SCN4A CACNA1S KCNJ18
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EDARADD HSD3B1 KCNB1 COASY B4GALNT1 LAMB2 ADAM10