1. Mendelian
  2. Rare Diseases
  3. HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8

Heterotaxy, Visceral, 8, Autosomal; Htx8

Table of contents:

Description

Autosomal visceral heterotaxy-8 is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016).For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Genes related to Heterotaxy, Visceral, 8, Autosomal; Htx8

  • PKD1L1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Heterotaxy, Visceral, 8, Autosomal; Htx8

  • Ventricular septal defect
  • Situs inversus totalis
  • Hypoplastic left heart
  • Atrioventricular canal defect
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Pulmonary artery atresia
  • Atrial flutter
  • Abdominal situs inversus
  • Heterotaxy

And another 3 symptoms. If you need more information about this disease we can help you.

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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, 8, Autosomal; Htx8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PKD1L1.

By Fulgent Genetics Fulgent Genetics (United States).

PKD1L1
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 %
Heterotaxy Syndrome , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics (Spain).

ZIC3, ACVR2B, PKD1L1, CFC1, NODAL
Specificity
20 %
Genes
100 %

You can get up to -4 more panels with our dedicated tool

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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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