Heterotaxy, Visceral, 4, Autosomal; Htx4

Table of contents:

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

Description

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Genes related to Heterotaxy, Visceral, 4, Autosomal; Htx4

ACVR2B

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Clinical Features

Top most frequent phenotypes and symptoms related to Heterotaxy, Visceral, 4, Autosomal; Htx4

Ventricular septal defect
Pulmonic stenosis
Dextrocardia
Atrioventricular canal defect
Polysplenia
Anomalous pulmonary venous return
Heterotaxy
Total anomalous pulmonary venous return
Right aortic arch
Congenitally corrected transposition of the great arteries

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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.

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.

Heterotaxy, Visceral, 4, Autosomal; Htx4 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 %
Heterotaxy V2 Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL Specificity 6 % Genes 100 %
ACVR2B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ACVR2B Specificity 100 % Genes 100 %
Heterotaxy visceral 4, autosomal (sequence analysis of ACVR2B gene). By CGC Genetics (Portugal). ACVR2B Specificity 100 % Genes 100 %
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SPAG1, ZIC3, CFAP298, MMP21, NME8, LRRC6, ACVR2B, INVS, DNAI2, ZMYND10, AK7, DNAAF2, DNAAF4, DNAL1, NKX2-5, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40 , (...) View the complete list with 16 more genes Panel complete gene list SPAG1, ZIC3, CFAP298, MMP21, NME8, LRRC6, ACVR2B, INVS, DNAI2, ZMYND10, AK7, DNAAF2, DNAAF4, DNAL1, NKX2-5, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CFAP53, CCDC114, ANKS6, CCDC151, PIH1D3, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1, LEFTY2, CCDC103, FOXH1, GAS8, GDF1, NODAL Specificity 3 % Genes 100 %
Ciliopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RPGR, SDCCAG8, SPAG1, CEP41, RSPH1, ZIC3, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, ACVR2B, INVS, CEP83, DCDC2, WDR19, CCNO , (...) View the complete list with 73 more genes Panel complete gene list RPGR, SDCCAG8, SPAG1, CEP41, RSPH1, ZIC3, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, ACVR2B, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7, CFTR, NPHP4, KIF14, ZMYND10, TTC8, DNAAF2, RSPH9, INPP5E, DNAAF4, RSPH4A, AHI1, DNAL1, B9D1, DRC1, TCTN3, NKX2-5, TMEM216, CCDC39, ARL13B, ARMC4, TTC21B, OFD1, TCTN2, CPLANE1, DNAAF5, CCDC40, TCTN1, CSPP1, BBS10, CFAP53, CCDC114, BBS12, ANKS6, TMEM138, WDPCP, BBIP1, CCDC151, TMEM67, B9D2, IQCB1, CEP290, RPGRIP1L, CEP164, CC2D2A, DNAH11, GLIS2, DNAH5, DNAH8, DNAI1, CCDC65, BBS9, DNAAF3, KIF7, DNAAF1, LEFTY2, CCDC103, TMEM231, FOXH1, GDF1, LZTFL1, MKKS, MKS1, NODAL, NPHP1, NPHP3, PDE6D, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %
Heterotaxy, Visceral 4 (HTX4) via ACVR2B Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ACVR2B Specificity 100 % Genes 100 %
Congenital heart defects panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). BRAF, SOS1, TAZ, TBX20, TBX5, ZIC3, ACTC1, CRELD1, CBL, SHOC2, LDB3, ACVR2B, CFC1, NKX2-5, LEFTY2, ELN, FOXH1, GATA4, GDF1, GJA1 , (...) View the complete list with 14 more genes Panel complete gene list BRAF, SOS1, TAZ, TBX20, TBX5, ZIC3, ACTC1, CRELD1, CBL, SHOC2, LDB3, ACVR2B, CFC1, NKX2-5, LEFTY2, ELN, FOXH1, GATA4, GDF1, GJA1, GJC1, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, NODAL, NRAS, PTPN11, RAF1 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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