Genetic Disorders and Biochemical Pathology — Flashcards

What is the mode of inheritence of congenital erythropoetic porphyria?_____

What is the mode of inheritance of Hereditary Hemorrhagic Telangiectasia?

Fish odor syndrome is also called as _____

Harlequin ichthyosis is due to mutations of the _____ genes

Bartter's syndrome is associated with _____ PGE2 levels

Which enzyme deficiency is seen in EDS type VI?_____

The COCH gene, may contribute to Meniere's disease and is located on the long arm (q) of chromosome _____

_____ syndrome is a rare multisystem disorder of copper metabolism with features of both Wilsons and Menkes disease.

In Wilson disease, hepatic copper content usually exceeds _____ µg/g dry weight.

Piebaldism is a benign condition, and has mutations in _____.