Heterotaxy, Visceral, 2, Autosomal; Htx2

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, 2, Autosomal; Htx2

CFC1
POTEI

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Clinical Features

Top most frequent phenotypes and symptoms related to Heterotaxy, Visceral, 2, Autosomal; Htx2

Microcephaly
Ventricular septal defect
Abnormal heart morphology
Agenesis of corpus callosum
Intestinal malrotation
Situs inversus totalis
Pyloric stenosis
Dextrocardia
Atrioventricular canal defect
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, 2, Autosomal; Htx2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Heterotaxy V1 Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ZIC3, CFC1, FOXH1, NODAL Specificity 25 % Genes 50 %
CFC1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CFC1 Specificity 100 % Genes 50 %
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 50 %
CFC1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CFC1 Specificity 100 % Genes 50 %
Heterotaxy visceral 2, autosomal (sequence analysis of CFC1 gene). By CGC Genetics (Portugal). CFC1 Specificity 100 % Genes 50 %
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 50 %
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 50 %
Heterotaxy panel. By Centogene AG - the Rare Disease Company (Germany). ZIC3, CRELD1, ACVR2B, CFC1, NKX2-5, LEFTY2, FOXH1, GDF1, GJA1, NODAL Specificity 10 % Genes 50 %

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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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