NME7 gene related symptoms and diseases

All the information presented here about the NME7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NME7 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Neoplasm of the gastrointestinal tract Uncommon - Between 30% and 50% cases
Gastrointestinal stroma tumor Uncommon - Between 30% and 50% cases
Leiomyosarcoma Uncommon - Between 30% and 50% cases
Soft tissue sarcoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NME7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Mastocytosis
  • Neoplasm of the small intestine
  • Neoplasm of the rectum
  • Esophageal neoplasm
  • Neoplasm of the colon
  • Neoplasm of the stomach
  • Gastrointestinal obstruction
  • Giant hypertrophic gastritis

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NME7 gene

Here you will find a list of rare diseases related to the NME7. 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

SITUS INVERSUS TOTALIS


Alternate names

SITUS INVERSUS TOTALIS Is also known as complete situs inversus, complete situs inversus viscerum, situs inversus viscerum, siv, situs inversus

Description

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Most common symptoms of SITUS INVERSUS TOTALIS

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Dyskinesia


More info about SITUS INVERSUS TOTALIS

SOURCES: ORPHANET OMIM


Potential gene panels for NME7 gene

NME7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NME7 gene.

More info about this panel


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