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.

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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

SOURCES: ORPHANET OMIM


Potential gene panels for COL14A1 gene

COL14A1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the COL14A1 gene.

More info about this panel

COL14A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL14A1 gene.

More info about this panel


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