TRPA1 gene related symptoms and diseases

All the information presented here about the TRPA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TRPA1 gene

Symptoms // Phenotype % Cases
Pain Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Pallor Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TRPA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Tachycardia
  • Cyanosis
  • Hyperalgesia

Rare diseases associated to TRPA1 gene

Here you will find a list of rare diseases related to the TRPA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL EPISODIC PAIN SYNDROME WITH PREDOMINANTLY UPPER BODY INVOLVEMENT

Description

Familial episodic pain syndrome with predominantly upper body involvement is a subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.


More info about FAMILIAL EPISODIC PAIN SYNDROME WITH PREDOMINANTLY UPPER BODY INVOLVEMENT

SOURCES: ORPHANET

EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1

Description

Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). Genetic Heterogeneity of Familial Episodic Pain SyndromeSee also FEPS2 (OMIM ), caused by mutation in the SCN10A gene (OMIM ) on chromosome 3p22, and FEPS3 (OMIM ), caused by mutation in the SCN11A gene (OMIM ) on chromosome 3p22.

Most common symptoms of EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1

  • Pain
  • Fatigue
  • Respiratory distress
  • Hyperhidrosis
  • Pallor


More info about EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1

SOURCES: OMIM


Potential gene panels for TRPA1 gene

Familial episodic pain syndrome, 1 (sequencing analysis of TRPA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TRPA1 gene.

More info about this panel
Portugal.

Familial episodic pain syndrome, 1 (sequencing analysis of TRPA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TRPA1 gene.

More info about this panel
Portugal.

Neuropathic Pain Syndromes Panel Panel

Germany.

By CeGaT GmbH Neuropathic Pain Syndromes Panel that also includes the following genes: SCN10A SCN11A SCN9A TRPA1 NTRK1

More info about this panel
Germany.

TRPA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRPA1 gene.

More info about this panel
United States.

EPISODIC PAIN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TRPA1 gene.

More info about this panel
Spain.

Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A Panel

Spain.

By Reference Laboratory Genetics Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A that also includes the following genes: SCN10A SCN9A TRPA1

More info about this panel
Spain.

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