Heterotaxy, Visceral, 1, X-linked; Htx1
Description
Clinical Features
Top most frequent phenotypes and symptoms related to Heterotaxy, Visceral, 1, X-linked; Htx1
- Hypertelorism
- Failure to thrive
- Cleft palate
- Ventricular septal defect
- Atrial septal defect
- Patent ductus arteriosus
- Arrhythmia
- Abnormal heart morphology
- Cerebellar hypoplasia
- Recurrent respiratory infections
And another 29 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.
Alternative names
Heterotaxy, Visceral, 1, X-linked; Htx1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked, laterality, x-linked, dextrocardia with other cardiac malformations.
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, 1, X-linked; Htx1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Ciliopathies.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
Heterotaxia.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
ZIC3, CRELD1, ACVR2B, CITED2, NKX2-5, DNAH11, DNAH5, DNAI1, SHROOM3, LEFTY2, FOXH1, GATA4, GDF1, SMAD2, NODAL
Specificity
7 %
Genes
100 % |
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
100 % |
ZIC3 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ZIC3
Specificity
100 %
Genes
100 % |
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
100 % |
ZIC3. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
ZIC3
Specificity
100 %
Genes
100 % |
VACTERL association, X-linked (sequence analysis of ZIC3 gene).
By CGC Genetics (Portugal).
ZIC3
Specificity
100 %
Genes
100 % |
Heterotaxy, visceral, 1, X-linked (sequence analysis of ZIC3 gene).
By CGC Genetics (Portugal).
ZIC3
Specificity
100 %
Genes
100 % |
You can get up to 36 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 JOUBERT SYNDROME 16; JBTS16