Arrhythmogenic Right Ventricular Dysplasia, Familial, 13; Arvd13

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Arrhythmogenic right ventricular cardiomyopathy/dysplasia is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013).

Genes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13; Arvd13

CTNNA3

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Clinical Features

Top most frequent phenotypes and symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13; Arvd13

Cardiomyopathy
Congestive heart failure
Arrhythmia
Tachycardia
Syncope
Ventricular tachycardia
Atrioventricular block
Akinesia
Bundle branch block
Right bundle branch block

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Arrhythmogenic Right Ventricular Dysplasia, Familial, 13; Arvd13 Is also known as arvc13, arrhythmogenic right ventricular cardiomyopathy 13.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 13; Arvd13 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CTNNA3. By Institute for Human Genetics University Clinic Freiburg (Germany). CTNNA3 Specificity 100 % Genes 100 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, PRDM16, JPH2, ACTC1, CAV3, LDB3, ANKRD1, ACTN2, HCN4 , (...) View the complete list with 31 more genes Panel complete gene list SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, PRDM16, JPH2, ACTC1, CAV3, LDB3, ANKRD1, ACTN2, HCN4, ALPK3, CALR3, MIB1, MYPN, CRYAB, CSRP3, CTNNA3, RBM20, DES, TMEM43, NEXN, DSC2, DSG2, DSP, EMD, FHL1, FHL2, GLA, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3 Specificity 2 % Genes 100 %
Arrhythmogenic right ventricular dysplasia 13 (ARVD, sequence analysis of CTNNA3 gene). By CGC Genetics (Portugal). CTNNA3 Specificity 100 % Genes 100 %
Arrhythmogenic right ventricular dysplasia 13 (ARVD, sequence analysis of CTNNA3 gene). By CGC Genetics (Portugal). CTNNA3 Specificity 100 % Genes 100 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel. By CeGaT GmbH (Germany). RYR2, TGFB3, TTN, CTNNA3, DES, TMEM43, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN Specificity 8 % Genes 100 %
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy. By Asper Biogene Asper Biogene LLC (Estonia). RYR2, TGFB3, TTN, LDB3, CTNNA3, DES, TMEM43, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN Specificity 8 % Genes 100 %
Inherited Cardiovascular Diseases and Sudden Death Panel. By Health in Code (Spain). MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ , (...) View the complete list with 191 more genes Panel complete gene list MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, KLF10, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TSFM, MYOT, TTN, TTR, VCL, ACTA1, ACTA2, MYOZ2, SLC2A10, GFM1, CACNA1C, CACNA1D, CACNA2D1, PRDM16, CACNB2, JPH2, ACTC1, CALM1, CALM2, MRPS22, CRELD1, CAPN3, CASQ2, CAV1, CAV3, CBL, SHOC2, CBS, LDB3, ANKRD1, BSCL2, TRIM63, MYLK2, ACTN2, LIAS, SLMAP, HCN4, NEBL, APOA5, ACVRL1, RANGRF, TRPM4, FKRP, TXNRD2, CETP, ATPAF2, MTO1, ADAMTSL4, PCSK9, SPRED1, CALR3, SCN3B, PDLIM3, AARS2, MIB1, ACAD9, AGK, COL1A2, COL3A1, COL5A1, COL5A2, COX15, COX6B1, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, CTF1, CTNNA3, COQ2, TMEM70, FHOD3, RBM20, DES, TMEM43, GPD1L, DLD, OBSL1, DMD, NEXN, GNPTAB, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, AGL, AGPAT2, ELN, EMD, ENG, CAVIN4, EYA4, FAH, FBN1, FBN2, FKTN, FHL1, FHL2, FLNA, FLNC, AKAP9, FOXD4, GAA, GATA4, GATA6, GDF2, GJA1, GJA5, ALMS1, GLA, GLB1, GUSB, HFE, ANK2, ANK3, HRAS, ABCC9, APOC3, JAG1, JUP, KCNA5, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LDLR, LMNA, LRP6, SMAD1, SMAD3, SMAD4, SMAD9, MAP2K1, MAP2K2, MLYCD, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NOTCH1, NOTCH3, NPPA, NRAS, PDHA1, ACADM, PHKA1, PITX2, PKP2, PLN, PLOD1, PMM2, ACADVL, PRKAG2, BAG3, PRKG1, PSEN1, PSEN2, PTPN11, RAF1 Specificity 1 % Genes 100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease. By Health in Code (Spain). MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ, TBX5, TCAP, TGFB3, KLF10, TNNC1, TNNI3 , (...) View the complete list with 121 more genes Panel complete gene list MRPL3, RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SLC22A5, BRAF, SLC25A4, SNTA1, SOS1, SURF1, TAZ, TBX5, TCAP, TGFB3, KLF10, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TSFM, TTN, TTR, VCL, ACTA1, MYOZ2, GFM1, CACNA1C, CACNA1D, CACNA2D1, CACNB2, JPH2, ACTC1, CALM1, CALM2, MRPS22, CASQ2, CAV3, SHOC2, LDB3, ANKRD1, BSCL2, TRIM63, MYLK2, ACTN2, LIAS, SLMAP, HCN4, RANGRF, TRPM4, ATPAF2, MTO1, CALR3, SCN3B, PDLIM3, AARS2, ACAD9, AGK, COX15, COX6B1, MYPN, CRYAB, CSRP3, NKX2-5, CTF1, CTNNA3, COQ2, TMEM70, FHOD3, DES, TMEM43, GPD1L, DLD, OBSL1, NEXN, GNPTAB, DSC2, DSG2, DSP, AGL, AGPAT2, EMD, CAVIN4, FAH, FHL1, FHL2, FLNC, AKAP9, GAA, GATA4, GATA6, GJA1, GJA5, GLA, GLB1, GUSB, HFE, ANK2, ANK3, HRAS, ABCC9, JUP, KCNA5, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KRAS, LAMP2, LMNA, MAP2K1, MAP2K2, MLYCD, MYBPC3, MYH6, MYH7, MYL2, MYL3, NPPA, NRAS, PDHA1, PHKA1, PITX2, PKP2, PLN, PMM2, ACADVL, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %

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Sources and references

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