1. Mendelian
  2. Rare Disease Genes
  3. ELP4

ELP4 gene related symptoms and diseases

All the information presented here about the ELP4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ELP4 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Gastrointestinal obstruction Uncommon - Between 30% and 50% cases
Schwannoma Uncommon - Between 30% and 50% cases
Gastrointestinal stroma tumor Uncommon - Between 30% and 50% cases
Leiomyosarcoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ELP4 gene alterations may also develop some of the following symptoms and phenotypes:

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

  • Soft tissue sarcoma
  • Mastocytosis
  • Neoplasm of the small intestine
  • Neoplasm of the rectum
  • Esophageal neoplasm
  • Neoplasm of the colon
  • Neoplasm of the stomach
  • Neoplasm of the gastrointestinal tract

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ELP4 gene

Here you will find a list of rare diseases related to the ELP4. 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

ANIRIDIA 2; AN2

Most common symptoms of ANIRIDIA 2; AN2

  • Cataract
  • Optic atrophy
  • Depressivity
  • Rod-cone dystrophy
  • Glaucoma


More info about ANIRIDIA 2; AN2

SOURCES: OMIM MESH


Potential gene panels for ELP4 gene

Focal epilepsy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Focal epilepsy panel that also includes the following genes: SYN1 ELP4 KCNT1 CHRNA2 CHRNA4 CHRNB2 SRPX2 GRIN2A LGI1

More info about this panel
Netherlands.

Developmental Eye Disease panel Panel

United States.

By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1

More info about this panel
United States.

ELP4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ELP4 gene.

More info about this panel
United States.

Benign rolandic epilepsy Panel

Spain.

By Bioarray

This panel specifically test the ELP4 gene.

More info about this panel
Spain.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HBA1 AICDA COQ8A FLAD1 NKX2-1 HYDIN OPTN