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.

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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

SOURCES: ORPHANET OMIM

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



More info about ISOLATED FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET


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

Olmsted syndrome (sequence analysis of TRPV3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TRPV3 gene.

More info about this panel

Olmsted syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TRPV3 gene.

More info about this panel

Olmsted syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TRPV3 gene.

More info about this panel

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

TRPV3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRPV3 gene.

More info about this panel

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

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

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


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