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

SOURCES: ORPHANET OMIM

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


Potential gene panels for PKD1L1 gene

PKD1L1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PKD1L1 gene.

More info about this panel
United States.

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.

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.

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.

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