1. Mendelian
  2. Rare Disease Genes
  3. BOC

BOC gene related symptoms and diseases

All the information presented here about the BOC 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.

Table of contents:

Top 5 symptoms and clinical features associated to BOC gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Leiomyosarcoma Very Common - Between 80% and 100% cases
Hypermelanotic macule Very Common - Between 80% and 100% cases
Neurofibromas Very Common - Between 80% and 100% cases
Irregular hyperpigmentation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Commonly - More than 50% cases

  • Lipoma
  • Paraganglioma
  • Schwannoma
  • Gastrointestinal stroma tumor
  • Soft tissue sarcoma
  • Intestinal obstruction
  • Mastocytosis
  • Neoplasm of the small intestine

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BOC gene

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


GASTROINTESTINAL STROMAL TUMOR

Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH


Potential gene panels for BOC gene

BOC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BOC gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ABCD4 COQ8A MAGED2 NTNG1 NOTCH2 DHDDS