COL14A1 gene related symptoms and diseases
All the information presented here about the COL14A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL14A1 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 COL14A1 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 COL14A1 gene
Here you will find a list of rare diseases related to the COL14A1. 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 COL14A1
Potential gene panels for COL14A1 gene
COL14A1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the COL14A1 gene.
More info about this panelCOL14A1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL14A1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRKRA CHCHD10 LPIN1 EHHADH CD164 SCN2A CDK16