1. Mendelian
  2. Rare Disease Genes
  3. TRPC3

TRPC3 gene related symptoms and diseases

All the information presented here about the TRPC3 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.

Table of contents:

Top 5 symptoms and clinical features associated to TRPC3 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Cerebellar atrophy Very Common - Between 80% and 100% cases
Gait ataxia Very Common - Between 80% and 100% cases
Unsteady gait Very Common - Between 80% and 100% cases
Postural instability Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TRPC3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Cerebellar vermis atrophy

Rare diseases associated to TRPC3 gene

Here you will find a list of rare diseases related to the TRPC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 41

Alternate names

SPINOCEREBELLAR ATAXIA TYPE 41 Is also known as sca41

Description

Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 41

  • Ataxia
  • Cerebellar atrophy
  • Gait ataxia
  • Unsteady gait
  • Postural instability


More info about SPINOCEREBELLAR ATAXIA TYPE 41

SOURCES: ORPHANET OMIM


Potential gene panels for TRPC3 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

TRPC3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRPC3 gene.

More info about this panel
United States.

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