Heterotaxy, Visceral, 7, Autosomal; Htx7

Description

Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015).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, 7, Autosomal; Htx7

  • Global developmental delay
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology
  • Dyskinesia
  • Intestinal malrotation
  • Otitis media
  • Cyanosis
  • Sinusitis

And another 24 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, 7, Autosomal; Htx7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
Specificity
3 %
Genes
100 %
Heterotaxy, visceral type 7.

By Centogene AG - the Rare Disease Company (Germany).

MMP21
Specificity
100 %
Genes
100 %
Heterotaxy and Situs Inversus Panel.

By Blueprint Genetics (Finland).

SPAG1, ZIC3, CFAP298, MMP21, LRRC6, ACVR2B, INVS, PKD1L1, DNAI2, ZMYND10, DNAAF2, DNAAF4, DNAL1, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CCDC114, ANKS6 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
HETEROTAXY & SITUS INVERSUS.

By Laboratorio de Genetica Clinica SL (Spain).

ZIC3, MMP21, CRELD1, ACVR2B, PKD1L1, CFC1, NKX2-5, CFAP53, LEFTY2, FOXH1, GDF1, NODAL
Specificity
9 %
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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