PKD1L1 gene related symptoms and diseases
All the information presented here about the PKD1L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PKD1L1 gene
Symptoms // Phenotype | % Cases |
---|---|
Abdominal situs inversus | Common - Between 50% and 80% cases |
Heterotaxy | Common - Between 50% and 80% cases |
Situs inversus totalis | Common - Between 50% and 80% cases |
Transposition of the great arteries | Common - Between 50% and 80% cases |
Ventricular septal defect | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PKD1L1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Unbalanced atrioventricular canal defect
- Congenitally corrected transposition of the great arteries
- Atrial flutter
- Pulmonary artery atresia
- Double outlet right ventricle
- Atrioventricular canal defect
- Intrauterine growth retardation
- Hypoplastic left heart
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PKD1L1 gene
Here you will find a list of rare diseases related to the PKD1L1. 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, 8, AUTOSOMAL; HTX8
Description
Autosomal visceral heterotaxy-8 is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016).For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).
Most common symptoms of HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8
- Ventricular septal defect
- Situs inversus totalis
- Hypoplastic left heart
- Atrioventricular canal defect
- Transposition of the great arteries
More info about HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8
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 PKD1L1
Potential gene panels for PKD1L1 gene
PKD1L1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PKD1L1 gene.
More info about this panelHeterotaxy and Situs Inversus Panel Panel
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 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
More info about this panelHeterotaxy Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Heterotaxy Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: ZIC3 ACVR2B PKD1L1 CFC1 NODAL
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