RNF43 gene related symptoms and diseases
All the information presented here about the RNF43 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RNF43 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Uncommon - Between 30% and 50% cases |
Carcinoma | Uncommon - Between 30% and 50% cases |
Leukemia | Uncommon - Between 30% and 50% cases |
Breast carcinoma | Uncommon - Between 30% and 50% cases |
Colon cancer | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RNF43 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Neoplasm of the pancreas
- Renal neoplasm
- Prostate cancer
Rare diseases associated to RNF43 gene
Here you will find a list of rare diseases related to the RNF43. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS
Description
Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene (OMIM ), or less commonly in the KRAS gene (OMIM ), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by Gala et al., 2014).
Most common symptoms of SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS
- Neoplasm
- Carcinoma
- Leukemia
- Breast carcinoma
- Colon cancer
More info about SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS
SOURCES: OMIM
HYPERPLASTIC POLYPOSIS SYNDROME
Alternate names
HYPERPLASTIC POLYPOSIS SYNDROME Is also known as serrated polyposis
Description
Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
More info about HYPERPLASTIC POLYPOSIS SYNDROME
SOURCES: ORPHANET
Search interest in RNF43
Potential gene panels for RNF43 gene
Hyperplastic polyposis syndrome (sequencing analysis of RNF43 gene) Panel
By CGC Genetics
This panel specifically test the RNF43 gene.
More info about this panelHyperplastic polyposis syndrome (sequencing analysis of RNF43 gene) Panel
By CGC Genetics
This panel specifically test the RNF43 gene.
More info about this panelRNF43 Panel
By MGZ Medical Genetics Center
This panel specifically test the RNF43 gene.
More info about this panelHereditary Cancer Syndromes - panels Panel
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelRNF43 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RNF43 gene.
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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