NEBL gene related symptoms and diseases
All the information presented here about the NEBL 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 NEBL gene
Symptoms // Phenotype | % Cases |
---|---|
Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
Fatigue | Very Common - Between 80% and 100% cases |
Edema | Very Common - Between 80% and 100% cases |
Congestive heart failure | Very Common - Between 80% and 100% cases |
Dilatation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NEBL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Arrhythmia
Not very common - Between 30% and 50% cases
- Interstitial pulmonary abnormality
- Allergy
- Myocarditis
- Tubulointerstitial nephritis
- Aortic root aneurysm
- Acute kidney injury
- Pericarditis
And 82 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NEBL gene
Here you will find a list of rare diseases related to the NEBL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
Alternate names
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc
Description
Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.
Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
- Sensorineural hearing impairment
- Feeding difficulties
- Fatigue
- Ventriculomegaly
- Cardiomyopathy
More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
KAWASAKI DISEASE
Alternate names
KAWASAKI DISEASE Is also known as kd, infantile polyarteritis, mucocutaneous lymph node syndrome
Description
Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.
Most common symptoms of KAWASAKI DISEASE
- Sensorineural hearing impairment
- Ptosis
- Fever
- Fatigue
- Edema
More info about KAWASAKI DISEASE
Search interest in NEBL
Potential gene panels for NEBL gene
Comprehensive Cardiac Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panelDilated & Arrhythmogenic Cardiomyopathies Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Dilated & Arrhythmogenic Cardiomyopathies Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panelCardiomyopathy Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panelDilated Cardiomyopathy Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panelDilated Cardiomyopathy Panel (30 genes) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dilated Cardiomyopathy Panel (30 genes) that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL
More info about this panelComprehensive Cardiomyopathy Panel (37 genes) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Comprehensive Cardiomyopathy Panel (37 genes) that also includes the following genes: SCN5A SCO2 SGCD SURF1 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1
More info about this panelDCM and DMD related Cardiomyopathy Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center DCM and DMD related Cardiomyopathy that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL
More info about this panelDCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panelPan Cardiomyopathy Panel (62 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pan Cardiomyopathy Panel (62 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panelComprehensive Cardiomyopathy Panel Panel
By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3
More info about this panelCardiomyopathy panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelDilated Cardiomyopathy Panel Panel
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelCardiomyopathies General Panel Panel
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panelDilated Cardiomyopathy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panelComprehensive Cardiovascular: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panelCardiomyopathy: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TNNC1 TNNI3
More info about this panelCardiomyopathy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 TAZ TCAP TNNC1
More info about this panelComprehensive Cardiovascular: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panelDilated Cardiomyopathy: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panelPan-Cardio NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panelHypertrophic Cardiomyopathy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hypertrophic Cardiomyopathy NGS Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3
More info about this panelNEBL Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NEBL gene.
More info about this panelCardiomyopathy Exome Panel Panel
By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panelFAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1
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 FDXR KARS KLF8 RLIM LPL LMBR1 AGRP