TRPV3 gene related symptoms and diseases
All the information presented here about the TRPV3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TRPV3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Palmoplantar keratoderma | Common - Between 50% and 80% cases |
| Hyperkeratosis | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Hypergranulosis | Uncommon - Between 30% and 50% cases |
| Pili torti | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TRPV3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Oral leukoplakia
- Ankylosis
- Neoplasm of the lung
- Parakeratosis
- Subungual hyperkeratosis
- Curly hair
- Squamous cell carcinoma
- Anhidrosis
And 56 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TRPV3 gene
Here you will find a list of rare diseases related to the TRPV3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES
Alternate names
MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma, mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques, olms, olmsted syndrome
Description
Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
Most common symptoms of MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2; FNEPPK2
Most common symptoms of PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2; FNEPPK2
- Hyperkeratosis
- Palmoplantar keratoderma
More info about PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2; FNEPPK2
SOURCES: OMIM
ISOLATED FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA
Search interest in TRPV3
Potential gene panels for TRPV3 gene
TRPV3 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the TRPV3 gene.
More info about this panel Germany.
Olmsted syndrome (sequence analysis of TRPV3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TRPV3 gene.
More info about this panel Portugal.
Olmsted syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TRPV3 gene.
More info about this panel Germany.
Olmsted syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TRPV3 gene.
More info about this panel Germany.
Ichthyoses and related disorders of cornification Panel Panel
Germany.
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panel Germany.
TRPV3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRPV3 gene.
More info about this panel United States.
Pachyonychia Congenita Panel Panel
Finland.
By Blueprint Genetics Pachyonychia Congenita Panel that also includes the following genes: TRPV3 KRT6C AAGAB KRT16 KRT17 KRT6A KRT6B
More info about this panel Finland.
Palmoplantar Keratoderma Panel Panel
Finland.
By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP
More info about this panel Finland.
Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TRPV3 AQP5 KRT1 KRT10 KRT16 KRT9
More info about this panel Spain.
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