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
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
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
Search interest in AQP5
Potential gene panels for AQP5 gene
AQP5 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the AQP5 gene.
More info about this panelIchthyoses and related disorders of cornification Panel Panel
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 panelAQP5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AQP5 gene.
More info about this panelPalmoplantar Keratoderma Panel Panel
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 panelPalmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel
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
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