PLEKHM2 gene related symptoms and diseases
All the information presented here about the PLEKHM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLEKHM2 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 PLEKHM2 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 PLEKHM2 gene
Here you will find a list of rare diseases related to the PLEKHM2. 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
Search interest in PLEKHM2
Potential gene panels for PLEKHM2 gene
PLEKHM2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLEKHM2 gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel Panel
Finland.
By Blueprint Genetics Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel that also includes the following genes: RYR2 SCN5A TCAP TNNT2 TPM1 TTN VCL JPH2 FBXO32 HCN4
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Dilated Cardiomyopathy (DCM) Panel Panel
Finland.
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel Finland.
BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCNN1A SNTA1 TRDN CACNA1C
More info about this panel Spain.
CARDIOMYOPATHY WITH ISOLATED NONCOMPACTION OF LEFT VENTRICULAR: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CARDIOMYOPATHY WITH ISOLATED NONCOMPACTION OF LEFT VENTRICULAR: NGS PANEL that also includes the following genes: TAZ TNNT2 TPM1 PRDM16 ACTC1 LDB3 ACTN2 HCN4 MIB1 CSRP3
More info about this panel Spain.
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