NODAL gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NODAL gene

Symptoms // Phenotype % Cases
Intrauterine growth retardation Rare - less than 30% cases
Ventricular septal defect Rare - less than 30% cases
Atrial septal defect Rare - less than 30% cases
Abnormal heart morphology Rare - less than 30% cases
Dyskinesia Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with NODAL gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Situs inversus totalis
  • Dextrocardia
  • Ciliary dyskinesia
  • Transposition of the great arteries
  • Abnormality of the respiratory system
  • Abdominal situs inversus
  • Heterotaxy

Rare diseases associated to NODAL gene

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


SITUS INVERSUS TOTALIS

Alternate names

SITUS INVERSUS TOTALIS Is also known as complete situs inversus, complete situs inversus viscerum, situs inversus viscerum, siv, situs inversus

Description

Heterotaxy ('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.For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Most common symptoms of SITUS INVERSUS TOTALIS

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Dyskinesia


More info about SITUS INVERSUS TOTALIS

SOURCES: ORPHANET 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

SEMILOBAR HOLOPROSENCEPHALY

Description

Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


More info about SEMILOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

SEPTOPREOPTIC HOLOPROSENCEPHALY

Alternate names

SEPTOPREOPTIC HOLOPROSENCEPHALY Is also known as septopreoptic hpe

Description

Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.


More info about SEPTOPREOPTIC HOLOPROSENCEPHALY

SOURCES: ORPHANET

LOBAR HOLOPROSENCEPHALY

Description

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


More info about LOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

ALOBAR HOLOPROSENCEPHALY

Description

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.


More info about ALOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY

Alternate names

MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY Is also known as mihf, mihv, middle interhemispheric variant of holoprosencephaly, mih, mih type hpe, syntelencephaly, middle interhemispheric fusion variant

Description

Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.


More info about MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY

SOURCES: ORPHANET


Potential gene panels for NODAL gene

NGS Epilepsy/Seizure Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel
United States.

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
United States.

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel
United States.

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
United States.

Holoprosencephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Holoprosencephaly that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel
United States.

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
United States.

NODAL 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 NODAL gene.

More info about this panel
United States.

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
United States.

Holoprosencephaly Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel
United States.

Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel
United States.

NODAL. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NODAL gene.

More info about this panel
Spain.

NODAL. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NODAL gene.

More info about this panel
Spain.

Ciliopathies (NGS panel for 90 genes) Panel

Portugal.

By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8

More info about this panel
Portugal.

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel
United States.

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
United States.

Heterotaxy, Visceral 5 (HTX5) via NODAL Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NODAL gene.

More info about this panel
United States.

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
United States.

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
United States.

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel
Germany.

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel
Germany.

Holoprosencephaly Panel

Germany.

By MGZ Medical Genetics Center Holoprosencephaly that also includes the following genes: CDON DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel
Germany.

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
Netherlands.

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
Germany.

Heterotaxy, visceral type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NODAL gene.

More info about this panel
Germany.

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
Germany.

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
Spain.

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
Spain.

NODAL-Related Visceral Heterotaxy Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the NODAL gene.

More info about this panel
Netherlands.

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
United States.

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
United States.

HOLOPROSENCEPHALY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases HOLOPROSENCEPHALY that also includes the following genes: SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL

More info about this panel
Spain.

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
Spain.

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
United States.

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel
United States.

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
United States.

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
United States.

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel
United States.

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
United States.

NODAL Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NODAL gene.

More info about this panel
United States.

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel
United States.

Holoprosencephaly Panel Panel

Finland.

By Blueprint Genetics Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 FOXH1 GLI2 GLI3

More info about this panel
Finland.

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
Finland.

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
Finland.

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
Finland.

Heterotaxia��� autosomal, visceral, type 5 Panel

Spain.

By Bioarray

This panel specifically test the NODAL gene.

More info about this panel
Spain.

Holoprosencephaly Panel

Spain.

By Bioarray

This panel specifically test the NODAL gene.

More info about this panel
Spain.

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
Spain.

HOLOPROSENCEPHALY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY NGS PANEL that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1

More info about this panel
Spain.

Visceral Heterotaxy Type 5 , Sequencing NODAL Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NODAL gene.

More info about this panel
Spain.

Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 NODAL PTCH1

More info about this panel
Spain.

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
Spain.

Holoprosencephaly: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Holoprosencephaly: gene sequencing panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel
Canada.

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