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.

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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

SOURCES: OMIM ORPHANET

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


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

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

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

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

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

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

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

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

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

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

Hypokalemic Periodic Paralysis , Sequencing KCNJ18 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KCNJ18 gene.

More info about this panel

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


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