Types of Genetic Disorder

Types of Genetic Disorder

Description

Examples

Effects on Patient

Single Gene

Caused by mutations in a single gene. Inherited in patterns: autosomal dominant, autosomal recessive, or sex-linked.

Cystic Fibrosis: Mutation in the CFTR gene.

Malnutrition, poor growth, frequent respiratory infections, breathing problems, chronic lung disease.

Multifactorial

Caused by a combination of environmental factors and mutations in multiple genes.

Alzheimer’s Disease: Affects memory and cognitive skills, caused by genetic and environmental factors.

Memory loss, difficulty thinking, personality changes, and trouble making decisions.

Chromosomal

Caused by issues with chromosomes (e.g., missing/extra copies, breaks, or deletions).

Down Syndrome: Extra copy of chromosome 21.

Delayed development, intellectual disability, and increased risk of medical issues.

Mitochondrial

Caused by mutations in mitochondrial DNA, inherited solely from the mother.

Lactic Acidosis: Accumulation of lactic acid in the blood.

Muscle cramps, weakness, nausea, and exhaustion due to metabolic issues.