Ventricular Septal Defect 2; Vsd2

Table of contents:

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

Description

Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {2,3:Wang et al., 2011, 2011}).For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (OMIM ).

Genes related to Ventricular Septal Defect 2; Vsd2

CITED2

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Clinical Features

Phenotypes and symptoms related to Ventricular Septal Defect 2; Vsd2

Hypertension
Ventricular septal defect
Congestive heart failure
Abnormality of cardiovascular system morphology
Arrhythmia
Abnormal heart morphology
Sudden cardiac death
Perimembranous ventricular septal defect

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.

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.

Ventricular Septal Defect 2; Vsd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Heterotaxia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). ZIC3, CRELD1, ACVR2B, CITED2, NKX2-5, DNAH11, DNAH5, DNAI1, SHROOM3, LEFTY2, FOXH1, GATA4, GDF1, SMAD2, NODAL Specificity 7 % Genes 100 %
Heart Diseases - panels. By MGZ Medical Genetics Center (Germany). RIT1, RRAS, RYR2, SCN4B, SCN5A, SCO2, SDHA, BMPR2, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A3, SNTA1, SOS1, SOS2, TAZ, TBX1 , (...) View the complete list with 137 more genes Panel complete gene list RIT1, RRAS, RYR2, SCN4B, SCN5A, SCO2, SDHA, BMPR2, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A3, SNTA1, SOS1, SOS2, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TGFBR1, TGFBR2, TLL1, TNNC1, TNNI3, TNNT2, TPM1, TRDN, MYOT, TTN, TTR, KDM6A, VCL, VCP, ACTA1, MYOZ2, GFM1, CACNA1C, SLC25A20, ACTC1, CALM1, CALM2, CRELD1, ZEB2, CASQ2, CAV3, CBL, SHOC2, LDB3, GATA5, ANKRD1, SELENON, ACTN2, ZFPM2, TAB2, SYNE2, SYNE1, FKRP, CFC1, POMGNT1, MTO1, CHKB, ADAMTSL4, POMT2, CITED2, SPRED1, CHD7, AARS2, ACAD9, AGK, COX15, MED13L, CPT1A, CPT2, A2ML1, GNE, CRYAB, CSRP3, NKX2-5, TMEM70, RBM20, DES, TMEM43, DMD, DNAH11, NEXN, DSC2, DSG2, DSP, PNPLA2, AGL, NKX2-6, ELN, EMD, ETFA, ETFB, ETFDH, FBN1, FKTN, FHL1, FLNC, AKAP9, FOXH1, GAA, GATA4, GATA6, GBE1, GDF1, GJA1, GLA, ANK2, HRAS, ABCC9, JAG1, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS, LAMP2, LARGE1, LMNA, LZTR1, SMAD6, MAP2K1, MAP2K2, KMT2D, MYBPC3, MYH6, MYH7, MYL2, MYL3, NF1, NODAL, NOTCH1, NOTCH2, NR2F2, NRAS, ACADM, ACADS, PKP2, PLEC, PLN, ACADVL, POMT1, PRKAG2, BAG3, PTPN11, RAF1, RASA2 Specificity 1 % Genes 100 %
Atrial septal defect type 8. By Centogene AG - the Rare Disease Company (Germany). CITED2 Specificity 100 % Genes 100 %
Ventricular septal defect type 2. By Centogene AG - the Rare Disease Company (Germany). CITED2 Specificity 100 % Genes 100 %
Congenital heart defects panel. By Centogene AG - the Rare Disease Company (Germany). TBX1, TBX20, CRELD1, ZFPM2, CFC1, CITED2, NKX2-5, FOXH1, GATA4, GATA6, GDF1, NOTCH1 Specificity 9 % Genes 100 %
Congenital Heart Defects Panel. By CeGaT GmbH (Germany). SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...) View the complete list with 24 more genes Panel complete gene list SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53, NAA15, LEFTY2, NKX2-6, ELN, FLNA, FOXC1, FOXH1, GATA4, GATA6, GDF1, GJA1, GJA5, IRX4, JAG1, SMAD2, SMAD6, MYH6, MYH7, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, RBM10 Specificity 3 % Genes 100 %
Cardiovascular Diseases_General Panel. By Health in Code (Spain). RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...) View the complete list with 351 more genes Panel complete gene list RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD, SKI, SLCO1B1, SLC22A5, BRAF, SLC22A8, SLC25A3, SLC25A4, SLC2A2, SNTA1, SOS1, SOS2, SURF1, TAZ, TBX1, TBX20, TBX5, TCAP, HNF1A, HNF1B, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, KLF10, KLF11, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TRDN, TSFM, MYOT, TTN, TTR, VCL, WFS1, XK, ZIC3, ZMPSTE24, ACTA1, ACTA2, MYOZ2, SLC2A10, GFM1, NEUROG3, ABCG5, ABCG8, CACNA1C, CACNA1D, CACNA2D1, PRDM16, CACNB2, LMF1, ELAC2, JPH2, ACTC1, IRX3, CALM1, CALM2, KCNK17, CALM3, MRPS22, CRELD1, PCDH15, CAPN3, CASQ2, CAV1, CAV3, CBL, SHOC2, CBS, LDB3, OBSCN, GATA5, ANKRD1, BSCL2, SALL4, TRIM63, MYLK2, ACTN2, LIAS, SCARB1, SLMAP, MRPL44, ZFPM2, NOS1AP, HCN4, TRIB1, SPEG, NEBL, TOPBP1, TAB2, SYNE2, SYNE1, ACVR1, APOA5, ACVR2B, ACVRL1, PERP, GREM2, RANGRF, TRPM4, FKRP, COA6, TXNRD2, CFC1, ZDHHC9, CEL, IER3IP1, FKBP14, LDLRAP1, CETP, ATPAF2, PPP1R13L, CH25H, NPHP4, TBC1D4, MTO1, CHRM2, TNNI3K, EIF2AK4, ADAMTSL4, CITED2, PCSK9, SPRED1, CALR3, UPF3B, INSIG2, CHD7, SCN3B, PDLIM3, SLC39A13, BMP10, AARS2, MIB1, MYLIP, RFX6, ACAD9, ADAMTS2, AGK, COL1A2, COL3A1, COL5A1, COL5A2, COL7A1, COX15, COX6B1, MED13L, MYPN, CPT2, A2ML1, DOLK, CREBBP, PTF1A, CRYAB, CIDEC, CHST14, KANSL1, EHMT1, CSRP3, NKX2-5, GPIHBP1, CTNNA3, CTNNB1, COQ2, MCTP2, TMEM70, FHOD3, CYP2D6, CYP3A4, CYP3A5, FOXRED1, ANO5, RBM20, DES, TMEM43, GLIS3, GPD1L, DLD, OBSL1, DMD, TOR1AIP1, NEXN, GNPTAB, MFAP5, SLC25A40, DNM1L, GATAD1, DSC2, DSG2, DSP, DNAJC19, DTNA, PNPLA2, LEFTY2, AGL, EFEMP2, AGPAT2, EIF2AK3, NKX2-6, ELN, EMD, ENG, EP300, CAVIN4, COA5, EVC, EYA4, FAH, FBN1, FBN2, FKTN, FGF12, FHL1, FHL2, FLNA, FLNC, AKAP9, FOXC1, FOXD4, FOXF1, FOXH1, FOXP1, AKT2, FXN, ABCB1, GAA, GATA4, GATA6, GCK, GDF1, GDF2, GJA1, GJA5, ALMS1, GLA, GLB1, GPD1, AMPD1, GUSB, HAND2, HFE, ANGPTL3, ANK2, ANK3, HNF4A, HRAS, IDH2, ABCC9, ILK, INS, APOC2, INSR, APOC3, FOXP3, PDX1, IRX4, APOE, ISL1, JAG1, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE5, KCNE2, KCNE3, KCNH2, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KRAS, LAMA2, LAMA4, LAMP2, LCAT, LDLR, LEP, LIPA, LIPC, LMNA, LRP6, LZTR1, SMAD1, SMAD3, SMAD4, SMAD6, SMAD9, MAP2K1, MAP2K2, MEF2A, KMT2D, MLYCD, ABCG1, MTTP, MYBPC3, MYH11, ASPH, MYH6, MYH7, MYL2, MYL3, MYLK, MYOM1, NEUROD1, NF1, ZFHX3, NNT, NODAL, NOTCH1, NOTCH2, NOTCH3, NPC1L1, NPPA, NRAS, OPA3, ATP5F1E, PAX4, ATP7A, PDGFRA, PDHA1, PHKA1, PITX2, PKP2, PKP4, PLIN1, PLN, PLOD1, PMM2, ACADVL, B3GAT3, PPARG, B4GALT7, PRKAG2, BAG3, PRKG1, PSEN1, PSEN2, PTPN11, CAVIN1, PYGM, RAF1, RASA1, RASA2 Specificity 1 % Genes 100 %
Congenital heart diseases Panel. By Health in Code (Spain). BRAF, SOS1, TBX1, TBX20, TBX5, TFAP2B, TNNI3, MED12, ZIC3, ACTA2, ACTC1, CRELD1, CBL, SHOC2, GATA5, ANKRD1, SALL4, ZFPM2, TAB2, ACVR1 , (...) View the complete list with 55 more genes Panel complete gene list BRAF, SOS1, TBX1, TBX20, TBX5, TFAP2B, TNNI3, MED12, ZIC3, ACTA2, ACTC1, CRELD1, CBL, SHOC2, GATA5, ANKRD1, SALL4, ZFPM2, TAB2, ACVR1, ACVR2B, CFC1, NPHP4, TNNI3K, CITED2, CHD7, MIB1, MED13L, CREBBP, KANSL1, EHMT1, NKX2-5, MCTP2, NEXN, DTNA, LEFTY2, NKX2-6, ELN, EP300, EVC, EYA4, FLNA, FOXC1, FOXH1, FOXP1, GATA4, GATA6, GDF1, GJA1, GJA5, HAND2, HRAS, IRX4, ISL1, JAG1, KCNJ8, KRAS, SMAD3, SMAD6, MAP2K1, MAP2K2, KMT2D, MYBPC3, MYH11, MYH6, MYH7, NF1, NODAL, NOTCH1, NOTCH2, NRAS, PDGFRA, PITX2, PTPN11, RAF1 Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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