Heterotaxy, Visceral, 8, Autosomal; Htx8
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
Clinical FeaturesTop 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
And another 3 symptoms. If you need more information about this disease we can help you.
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 researchersCurrently, 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|
By Fulgent Genetics Fulgent Genetics (United States).
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
HETEROTAXY & SITUS INVERSUS.
By Laboratorio de Genetica Clinica SL (Spain).
ZIC3, MMP21, CRELD1, ACVR2B, PKD1L1, CFC1, NKX2-5, CFAP53, LEFTY2, FOXH1, GDF1, NODAL
Heterotaxy Syndrome , Panel Massive Sequencing (NGS) 5 Genes.
By Reference Laboratory Genetics (Spain).
ZIC3, ACVR2B, PKD1L1, CFC1, NODAL
You can get up to -4 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine