MIB2 gene related symptoms and diseases

All the information presented here about the MIB2 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 MIB2 gene

Symptoms // Phenotype % Cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Abnormal myocardium morphology Very Common - Between 80% and 100% cases
Pulmonary embolism Very Common - Between 80% and 100% cases
Left bundle branch block Very Common - Between 80% and 100% cases
Wolff-Parkinson-White syndrome Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MIB2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Concave nasal ridge
  • Restrictive cardiomyopathy
  • Left ventricular noncompaction
  • Abnormal left ventricle morphology
  • Right bundle branch block
  • Abnormal thrombosis
  • Right ventricular failure
  • Biventricular hypertrophy

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MIB2 gene

Here you will find a list of rare diseases related to the MIB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LEFT VENTRICULAR NONCOMPACTION


Alternate names

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium, lvnc, left ventricular hypertrabeculation, left ventricular noncompaction 1 with or without congenital heart defects

Description

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

Most common symptoms of LEFT VENTRICULAR NONCOMPACTION

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


More info about LEFT VENTRICULAR NONCOMPACTION

SOURCES: OMIM ORPHANET


Potential gene panels for MIB2 gene

MIB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MIB2 gene.

More info about this panel


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