ZIC3 gene related symptoms and diseases

All the information presented here about the ZIC3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ZIC3 gene

Symptoms // Phenotype	% Cases
Hypertelorism	Uncommon - Between 30% and 50% cases
Pulmonic stenosis	Uncommon - Between 30% and 50% cases
Transposition of the great arteries	Uncommon - Between 30% and 50% cases
Asplenia	Uncommon - Between 30% and 50% cases
Heterotaxy	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ZIC3 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Intestinal malrotation
Double outlet right ventricle
Anal atresia
Abnormal heart morphology
Ventricular septal defect
Cleft palate
Rarely - Less than 30% cases
Thin vermilion border
Short thumb

And 62 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ZIC3 gene

Here you will find a list of rare diseases related to the ZIC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Alternate 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

Description

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

Most common symptoms of HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Hypertelorism
Failure to thrive
Cleft palate
Ventricular septal defect
Atrial septal defect

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

SOURCES: MESH OMIM ORPHANET

VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

Alternate names

VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX Is also known as vacterl-h, x-linked

Description

VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).

Most common symptoms of VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

Hypertelorism
Cleft palate
Ventricular septal defect
Hydrocephalus
Abnormality of cardiovascular system morphology

More info about VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

SOURCES: OMIM

SITUS AMBIGUUS

Alternate names

SITUS AMBIGUUS Is also known as situs ambiguous, partial situs inversus, incomplete situs inversus

More info about SITUS AMBIGUUS

SOURCES: ORPHANET

ISOLATED CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES

Alternate names

ISOLATED CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES Is also known as isolated congenitally uncorrected transposition of the great vessels

More info about ISOLATED CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES

SOURCES: ORPHANET

Search interest in ZIC3

Potential gene panels for ZIC3 gene

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

ZIC3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ZIC3 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to ZIC3 gene

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Alternate names

Description

Most common symptoms of HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

Alternate names

Description

Most common symptoms of VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

SITUS AMBIGUUS

Alternate names

ISOLATED CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES

Alternate names

Search interest in ZIC3

Potential gene panels for ZIC3 gene

Ciliopathies Panel

Heterotaxia Panel

Heterotaxy V1 Panel Panel

ZIC3 Sequencing Panel

Heterotaxy V2 Panel Panel

ZIC3. Complete sequencing Panel

VACTERL association, X-linked (sequence analysis of ZIC3 gene) Panel

Heterotaxy, visceral, 1, X-linked (sequence analysis of ZIC3 gene) Panel

X-linked Heterotaxy (HTX1) via ZIC3 Gene Sequencing with CNV Detection Panel

Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

Ciliopathy Sequencing Panel with CNV Detection Panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

Nephrology Endocrinology and Electrolytes - panels Panel

Congenital heart defects panel Panel

Heterotaxy panel Panel

AllNeuro panel Panel

Heterotaxy, visceral type 1 Panel

Congenital Heart Defects Panel Panel

Cardiovascular Diseases_General Panel Panel

Congenital heart diseases Panel Panel

ZIC3-Related Visceral Heterotaxy Panel

qChip Panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

Invitae Congenital Heart Disease Panel Panel

Heterotaxy Panel

Ciliopathies: Sequencing Panel Panel

Ciliopathies: Deletion/Duplication Panel Panel

Ciliopathies NGS Panel Panel

Heterotaxy and Situs Inversus NGS Panel Panel

ZIC3 Panel

X-chromosome High Resolution microarray analysis Panel

Congenital Structural Heart Disease Panel Panel

Ciliopathy Panel Panel

Heterotaxy and Situs Inversus Panel Panel

HeterotaxiaÃ?Â?Ã?Â Panel

Rapid microarray (CGH and SNP) Panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

CONGENITAL HEART DEFECTS: NGS PANEL Panel

DOUBLE OUTLET RIGHT VENTRICLE Panel

CONGENITAL HEART DEFECTS Panel

CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) Panel

HETEROTAXY & SITUS INVERSUS Panel

Heterotaxy Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel