Thoracic aortic aneurysm or dissectionGene: PKD1
173900 polycystic kidney disease (ADPKD); OMIM mentions cardiac features as valvular disease and intracranial aneurysm. No aortopathy phenotype on HGMD.
Created: 25 Mar 2019, 4:30 p.m.
Silverio et al (Nephrology 2015 20:229 PMID:25476912) report on aortic disease in patients with ADPKD. Review of publications where both ADPKD and aortic disease were both present but no mention of genetic associations apart from mentioning that PKD1 and PKD2 cause ADPKD. Patients described in publication also had other marfaniod features. Qiu and Yu (J Cardiovasc Dis & Diag 2013 10.4172 PMID:not found) review the role of PKD1 and PKD2 in cardiovascular systems and describe association with mainly intracranial aneurysms - aortic aneurysm seems less frequent.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transferred comment on list classification by Ellen Thomas (Genomics England Curator) from the Cystic kidney disease panel: The primary dominant PKD gene; results need careful curation due to presence of a pseudogene which complicates read mapping and variant calling. April 15, 2016
Created: 11 May 2017, 3:03 p.m.
Comment on phenotypes: clinical synopsis includes Vascular- Intracranial aneurysm
Created: 28 Apr 2017, 1:25 p.m.
Has connective tissue phenotype and subarachnoid haemorrhage
Created: 28 Apr 2017, 1:21 p.m.
Mode of inheritance
Connective Tissue Disorders
Source South West GLH was added to PKD1. Mode of inheritance for gene PKD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for PKD1 were set to Polycystic kidney disease, adult type I,173900; Connective Tissue Disorders
Phenotypes for PKD1 were set to Polycystic kidney disease, adult type I,173900
Publications for PKD1 were set to 19165178;20558538;22034641
Mode of inheritance for PKD1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
PKD1 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for PKD1 were set to Connective Tissue Disorders;Polycystic kidney disease, adult type I,173900
PKD1 was created by LouiseD
PKD1 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Expert Review