PTPN12 gene related symptoms and diseases
All the information presented here about the PTPN12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PTPN12 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Very Common - Between 80% and 100% cases |
Carcinoma | Very Common - Between 80% and 100% cases |
Oligodontia | Very Common - Between 80% and 100% cases |
Colon cancer | Very Common - Between 80% and 100% cases |
Colitis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PTPN12 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Renal cell carcinoma
- Ulcerative colitis
- Retinoblastoma
- Leiomyosarcoma
- Endometrial carcinoma
- Colorectal polyposis
- Transitional cell carcinoma of the bladder
- Hereditary nonpolyposis colorectal carcinoma
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PTPN12 gene
Here you will find a list of rare diseases related to the PTPN12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COLORECTAL CANCER; CRC
Alternate names
COLORECTAL CANCER; CRC Is also known as colon cancer
Description
Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013).
Most common symptoms of COLORECTAL CANCER; CRC
- Neoplasm
- Carcinoma
- Oligodontia
- Colon cancer
- Colitis
More info about COLORECTAL CANCER; CRC
SOURCES: OMIM
Search interest in PTPN12
Potential gene panels for PTPN12 gene
PTPN12 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PTPN12 gene.
More info about this panelCEN4GEN Colorectal cancer: Extended Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Colorectal cancer: Extended Sequencing Panel that also includes the following genes: BRAF TCF7L2 TGFBR2 TP53 CASP8 TCERG1 GALNT17 FBXW7 ACVR1B CDC27
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 NONO NDUFV1 ARID1B VANGL1 ERC1 DVL1 SEC23A