GABRA3 gene related symptoms and diseases

All the information presented here about the GABRA3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GABRA3 gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Shortened PR interval Very Common - Between 80% and 100% cases
Hashimoto thyroiditis Very Common - Between 80% and 100% cases
Hypomagnesemia Very Common - Between 80% and 100% cases
Heat intolerance Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GABRA3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Graves disease
  • Abnormality of peripheral nerve conduction
  • Urinary retention
  • Periodic paralysis
  • Abnormality of muscle fibers
  • Postprandial hyperglycemia
  • Impaired myocardial contractility
  • Increased intramyocellular lipid droplets

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GABRA3 gene

Here you will find a list of rare diseases related to the GABRA3. 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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CLDN19 CYP2B6 ABCD3 SLC25A13 BAZ1B ALDH5A1 STIM1