AQP5 gene related symptoms and diseases

All the information presented here about the AQP5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AQP5 gene

Symptoms // Phenotype % Cases
Hyperkeratosis Very Common - Between 80% and 100% cases
Erythema Very Common - Between 80% and 100% cases
Pruritus Very Common - Between 80% and 100% cases
Palmoplantar keratoderma Very Common - Between 80% and 100% cases
Diffuse palmoplantar keratoderma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AQP5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Papule
  • Abnormal blistering of the skin
  • Skin ulcer
  • Scaling skin
  • Fragile skin
  • Plantar hyperkeratosis
  • Congenital bullous ichthyosiform erythroderma
  • Nonepidermolytic palmoplantar keratoderma
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Rare diseases associated to AQP5 gene

Here you will find a list of rare diseases related to the AQP5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA


Alternate names

NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as ppkne, nonepidermolytic palmoplantar keratoderma, autosomal dominant diffuse palmoplantar keratoderma, norrbotten type, neppk, diffuse palmoplantar keratoderma, bothnian type, keratoderma, nonepidermolytic palmoplantar, tylosis

Description

Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.

Most common symptoms of NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

  • Hyperkeratosis
  • Erythema
  • Papule
  • Pruritus
  • Palmoplantar keratoderma


More info about NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET OMIM

PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB


Description

Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK (OMIM ).For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).

Most common symptoms of PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB

  • Hyperkeratosis
  • Erythema
  • Pruritus
  • Palmoplantar keratoderma
  • Diffuse palmoplantar keratoderma


More info about PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB

SOURCES: OMIM


Potential gene panels for AQP5 gene

AQP5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the AQP5 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

AQP5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AQP5 gene.

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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