Heterotaxy, Visceral, 7, Autosomal; Htx7

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Heterotaxy, Visceral, 7, Autosomal; Htx7

MMP21

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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

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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, 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 Panel complete gene list SPAG1, ZIC3, CFAP298, MMP21, NME8, LRRC6, ACVR2B, INVS, DNAI2, ZMYND10, AK7, DNAAF2, DNAAF4, DNAL1, NKX2-5, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CFAP53, CCDC114, ANKS6, CCDC151, PIH1D3, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1, LEFTY2, CCDC103, FOXH1, GAS8, GDF1, NODAL 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 Panel complete gene list SPAG1, ZIC3, CFAP298, MMP21, LRRC6, ACVR2B, INVS, PKD1L1, DNAI2, ZMYND10, DNAAF2, DNAAF4, DNAL1, CCDC39, TTC25, ARMC4, DNAAF5, CCDC40, CCDC114, ANKS6, CCDC151, PIH1D3, DNAH11, DNAH5, DNAI1, DNAAF3, DNAAF1, LEFTY2, CCDC103, FOXH1, GDF1, NODAL 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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