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
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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


Potential gene panels for RNF43 gene

Hyperplastic polyposis syndrome (sequencing analysis of RNF43 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RNF43 gene.

More info about this panel

Hyperplastic polyposis syndrome (sequencing analysis of RNF43 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RNF43 gene.

More info about this panel

RNF43 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the RNF43 gene.

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

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 panel

RNF43 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RNF43 gene.

More info about this panel

FoundationOne® Heme Panel

United States.

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 panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

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 panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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 panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

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 panel

Tempus xT assay Panel

United States.

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 panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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