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.
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
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
Search interest in CFAP53
Potential gene panels for CFAP53 gene
Heterotaxy V2 Panel Panel
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 panelHeterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel
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 panelCiliopathy Sequencing Panel with CNV Detection Panel
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 panelHeterotaxy, visceral type 6 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CFAP53 gene.
More info about this panelCongenital Heart Defects Panel Panel
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 panelInvitae Congenital Heart Defects and Heterotaxy Panel Panel
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 panelCFAP53 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CFAP53 gene.
More info about this panelHETEROTAXY & SITUS INVERSUS Panel
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
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