Nutrient-Gene Interaction: Metabolic Genotype-Phenotype Relationship

Genotype – phenotype relationship in Hereditary Hemorrhagic Telangiectasia

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by vascular malformations in multiple organ systems, resulting in mucocutaneous telangiectases and arteriovenous malformations predominantly in the lungs (pulmonary arteriovenous malformation; PAVM), brain (cerebral arteriovenous malformation; CAVM), and liver (hepatic arteriovenous malformation; HAVM)....

RAMEDIS - Rare Metabolic Diseases Publishing Tool for Genotype-Phenotype Correlation

To gain further knowledge about rare genetic diseases, a world wide method for data collection via the Internet has been established. This new approach will improve collecting valuable data from single case reports. RAMEDIS saves standardised patient data which will be usable for statistics, longitudinal examinations and co-operative studies in future time. Embedded in the scene of the German H...

Relationship between genotype and phenotype for the CFTR gene W846X mutation.

Cystic fibrosis (CF) is the most common inherited disorder in white populations. It occurs in approximately 1/2500 live births and is characterised by chronic and progressive obstructive lung disease, pancreatic insufficiency, and high sweat electrolyte levels. Western Brittany has one of the highest rates of CF in the world. 2 Over 98% of the CF mutations in the Celtic population of Brittany h...

Genotype and phenotype of COVID-19: Their roles in pathogenesis

COVID-19 is a novel coronavirus with an outbreak of unusual viral pneumonia in Wuhan, China, and then pandemic. Based on its phylogenetic relationships and genomic structures the COVID-19 belongs to genera Betacoronavirus. Human Betacoronaviruses (SARS-CoV-2, SARS-CoV, and MERS-CoV) have many similarities, but also have differences in their genomic and phenotypic structure that can influence th...