AAGAB gene related symptoms and diseases
All the information presented here about the AAGAB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AAGAB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Very Common - Between 80% and 100% cases |
| Breast carcinoma | Very Common - Between 80% and 100% cases |
| Orthokeratosis | Very Common - Between 80% and 100% cases |
| Hypergranulosis | Very Common - Between 80% and 100% cases |
| Neoplasm of the pancreas | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AAGAB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Parakeratosis
- Renal cell carcinoma
- Hodgkin lymphoma
- Colon cancer
- Squamous cell carcinoma
- Scaling skin
- Abnormality of the nail
- Pain
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AAGAB gene
Here you will find a list of rare diseases related to the AAGAB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1
Alternate names
PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1 Is also known as palmoplantar keratoderma, punctate type i, ppkp1, keratodermia palmoplantaris papulosa, buschke-fischer-brauer type, buschke-fischer-brauer syndrome, keratosis palmoplantaris papulosa, kppp1
Description
Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..
Most common symptoms of PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1
- Neoplasm
- Pain
- Dilatation
- Depressivity
- Hyperkeratosis
More info about PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1
Search interest in AAGAB
Potential gene panels for AAGAB gene
AAGAB Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the AAGAB gene.
More info about this panel Germany.
Punctate palmoplantar keratoderma type I (sequence analysis of AAGAB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the AAGAB gene.
More info about this panel Portugal.
Punctate palmoplantar keratoderma type I (sequence analysis of AAGAB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the AAGAB gene.
More info about this panel Portugal.
Keratoderma, palmoplantar, punctate type 1A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AAGAB 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.
AAGAB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AAGAB 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.
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