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.

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.

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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


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

More info about this panel

Heterotaxia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Heterotaxia that also includes the following genes: ZIC3 CRELD1 ACVR2B CITED2 NKX2-5 DNAH11 DNAH5 DNAI1 SHROOM3 LEFTY2

More info about this panel

Heterotaxy V1 Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Heterotaxy V1 Panel that also includes the following genes: ZIC3 CFC1 FOXH1 NODAL

More info about this panel

ZIC3 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ZIC3 gene.

More info about this panel

Heterotaxy V2 Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Heterotaxy V2 Panel that also includes the following genes: ZIC3 CRELD1 ACVR2B CFC1 BCL9L NKX2-5 CFAP53 DNAH11 DNAH5 NAT10

More info about this panel

ZIC3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ZIC3 gene.

More info about this panel

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

Portugal.

By CGC Genetics

This panel specifically test the ZIC3 gene.

More info about this panel

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

Portugal.

By CGC Genetics

This panel specifically test the ZIC3 gene.

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ZIC3 gene.

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 NME8 LRRC6 ACVR2B INVS DNAI2 ZMYND10

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237

More info about this panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Congenital heart defects panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2

More info about this panel

Heterotaxy panel Panel

Germany.

By Centogene AG - the Rare Disease Company Heterotaxy panel that also includes the following genes: ZIC3 CRELD1 ACVR2B CFC1 NKX2-5 LEFTY2 FOXH1 GDF1 GJA1 NODAL

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Heterotaxy, visceral type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ZIC3 gene.

More info about this panel

Congenital Heart Defects Panel Panel

Germany.

By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Congenital heart diseases Panel Panel

Spain.

By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2

More info about this panel

ZIC3-Related Visceral Heterotaxy Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the ZIC3 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298

More info about this panel

Invitae Congenital Heart Disease Panel Panel

United States.

By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL

More info about this panel

Heterotaxy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Heterotaxy that also includes the following genes: ZIC3 CFC1 FOXH1 NODAL

More info about this panel

Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

More info about this panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A

More info about this panel

Ciliopathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL

More info about this panel

Heterotaxy and Situs Inversus NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Heterotaxy and Situs Inversus NGS Panel that also includes the following genes: ZIC3 NME8 ACVR2B INVS CFC1 DNAI2 DNAAF2 DNAL1 NKX2-5 CCDC39

More info about this panel

ZIC3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZIC3 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Congenital Structural Heart Disease Panel Panel

Finland.

By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB

More info about this panel

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel

Heterotaxy and Situs Inversus Panel Panel

Finland.

By Blueprint Genetics Heterotaxy and Situs Inversus Panel that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 LRRC6 ACVR2B INVS PKD1L1 DNAI2 ZMYND10

More info about this panel

Heterotaxia���  Panel

Spain.

By Bioarray

This panel specifically test the ZIC3 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

CONGENITAL HEART DEFECTS: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS: NGS PANEL that also includes the following genes: TBX1 TBX20 TBX5 ZIC3 ACTC1 CRELD1 ZFPM2 TAB2 CFC1 CITED2

More info about this panel

DOUBLE OUTLET RIGHT VENTRICLE Panel

Spain.

By Laboratorio de Genetica Clinica SL DOUBLE OUTLET RIGHT VENTRICLE that also includes the following genes: ZIC3 CFC1 GDF1

More info about this panel

CONGENITAL HEART DEFECTS Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS that also includes the following genes: ZIC3 CFC1 CITED2 MED13L FOXH1 GATA4 GDF1

More info about this panel

CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) that also includes the following genes: ZIC3 CFC1 MED13L GDF1

More info about this panel

HETEROTAXY & SITUS INVERSUS Panel

Spain.

By Laboratorio de Genetica Clinica SL HETEROTAXY & SITUS INVERSUS that also includes the following genes: ZIC3 MMP21 CRELD1 ACVR2B PKD1L1 CFC1 NKX2-5 CFAP53 LEFTY2 FOXH1

More info about this panel

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

Spain.

By Reference Laboratory Genetics Heterotaxy Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: ZIC3 ACVR2B PKD1L1 CFC1 NODAL

More info about this panel


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