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.
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
Search interest in MIB2
Potential gene panels for MIB2 gene
MIB2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MIB2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TTLL5 ALG3 HBD TNNT3 AASS EPB41 ALDH5A1