Genetic Disorders Overview

Flashcards covering key genetic disorders, their causes, effects, and prevalence.

Progeria

A genetic disorder caused by a mutation in a gene that makes lamin proteins, leading to an unstable nucleus and premature aging of cells.

Cystic Fibrosis (CF)

A genetic disorder caused by a mutation in the CFTR protein, leading to the buildup of thick mucus that affects the lungs, pancreas, and other organs.

Tay-Sachs

A rare genetic disorder caused by a missing enzyme in lysosomes, leading to the buildup of lipids in neurons and resulting in nerve cell damage and neurological problems.

Leigh Syndrome

A rare genetic disorder caused by mutations in mitochondrial DNA or nuclear genes, resulting in impaired energy production and problems in the nervous system.

Primary Ciliary Dyskinesia (PCD)

A rare genetic disorder caused by defective cilia and flagella proteins, leading to respiratory problems, infertility, and sometimes situs inversus.