CFAP53 gene related symptoms and diseases

All the information presented here about the CFAP53 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CFAP53 gene

Symptoms // Phenotype % Cases
Heterotaxy Common - Between 50% and 80% cases
Situs inversus totalis Common - Between 50% and 80% cases
Dextrocardia Common - Between 50% and 80% cases
Transposition of the great arteries Common - Between 50% and 80% cases
Abdominal situs inversus Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CFAP53 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cyanosis
  • Common atrium
  • Right aortic arch
  • Total anomalous pulmonary venous return
  • Complete atrioventricular canal defect
  • Double outlet right ventricle
  • Atrioventricular canal defect
  • Sinusitis

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CFAP53 gene

Here you will find a list of rare diseases related to the CFAP53. 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

HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6


Most common symptoms of HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6

  • Cough
  • Pulmonic stenosis
  • Cyanosis
  • Sinusitis
  • Situs inversus totalis


More info about HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6

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


Potential gene panels for CFAP53 gene

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

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

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

Heterotaxy, visceral type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CFAP53 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

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

CFAP53 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CFAP53 gene.

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


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