CFAP52 gene related symptoms and diseases
All the information presented here about the CFAP52 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CFAP52 gene
Symptoms // Phenotype | % Cases |
---|---|
Intrauterine growth retardation | Very Common - Between 80% and 100% cases |
Ventricular septal defect | Very Common - Between 80% and 100% cases |
Atrial septal defect | Very Common - Between 80% and 100% cases |
Abnormal heart morphology | Very Common - Between 80% and 100% cases |
Dyskinesia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CFAP52 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% 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 CFAP52 gene
Here you will find a list of rare diseases related to the CFAP52. 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
Search interest in CFAP52
Potential gene panels for CFAP52 gene
CFAP52 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CFAP52 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EDARADD COL4A1 CYP3A5 FLG ERC1 ACP2 SLC6A19