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RNF6 gene related symptoms and diseases

All the information presented here about the RNF6 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.

Table of contents:

Top 5 symptoms and clinical features associated to RNF6 gene

Symptoms // Phenotype % Cases
Cough Very Common - Between 80% and 100% cases
Lymphadenopathy Very Common - Between 80% and 100% cases
Chest pain Very Common - Between 80% and 100% cases
Abnormality of the voice Very Common - Between 80% and 100% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with RNF6 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Retinoblastoma
  • Clinodactyly of the 5th toe
  • Nausea and vomiting
  • Feeding difficulties in infancy
  • Increased body mass index
  • Esophageal neoplasm
  • Recurrent singultus
  • Barrett esophagus

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RNF6 gene

Here you will find a list of rare diseases related to the RNF6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ESOPHAGEAL CANCER

Description

Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal CancerSee a variant in the ADH1B gene ({103720.0001}) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene ({100650.0001}) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes.See the S100A14 gene (OMIM ) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal CancerSomatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (OMIM ), CDKN2A (OMIM ), DEC1 (OMIM ), DCC (OMIM ), DLEC1 (OMIM ), TGFBR2 (OMIM ), LZTS1 (OMIM ), RNF6 (OMIM ), WWOX (OMIM ), APC (OMIM ), and RUNX3 (OMIM ).

Most common symptoms of ESOPHAGEAL CANCER

  • Neoplasm
  • Dysphagia
  • Obesity
  • Weight loss
  • Gastroesophageal reflux


More info about ESOPHAGEAL CANCER

SOURCES: ORPHANET OMIM

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Alternate names

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS Is also known as escc, esophageal epidermoid carcinoma, esophageal squamous cell carcinoma

Description

Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.

Most common symptoms of SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

  • Feeding difficulties in infancy
  • Cough
  • Nausea and vomiting
  • Lymphadenopathy
  • Chest pain


More info about SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

SOURCES: ORPHANET


Potential gene panels for RNF6 gene

RNF6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RNF6 gene.

More info about this panel
United States.

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