Heterotaxy, Visceral, 2, Autosomal; Htx2

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 ).

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

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

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Incidence and onset information

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.


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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
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
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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