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).
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
Search interest in TRPA1
Potential gene panels for TRPA1 gene
Familial episodic pain syndrome, 1 (sequencing analysis of TRPA1 gene) Panel
By CGC Genetics
This panel specifically test the TRPA1 gene.
More info about this panelFamilial episodic pain syndrome, 1 (sequencing analysis of TRPA1 gene) Panel
By CGC Genetics
This panel specifically test the TRPA1 gene.
More info about this panelNeuropathic Pain Syndromes Panel Panel
By CeGaT GmbH Neuropathic Pain Syndromes Panel that also includes the following genes: SCN10A SCN11A SCN9A TRPA1 NTRK1
More info about this panelTRPA1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRPA1 gene.
More info about this panelEPISODIC PAIN SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the TRPA1 gene.
More info about this panelParoxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A Panel
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
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