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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM


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

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

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

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

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

AAGAB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AAGAB gene.

More info about this panel

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GAST REEP1 NOS3 GTF2H5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more