Question

What is the rarest genetic disorder?

Answer 1

Genetic disorders:

1. A genetic disorder can be caused by a mutation in one or more genes.
2. Some genetic disorders are intrinsic, meaning they are present at birth, whereas others are acquired as a result of gene mutations.

Types of genetic disorders:

Genetic disorders are classified into two groups.

1. Mendelian Disorders: a single gene condition that follows the Mendelian inheritance pattern.
2. Chromosomal Disorders: damage or modification in the structure or quantity of chromosomes, where chromosomes are either missing, duplicated, or a portion is translocated.
3. Down syndrome, Thalassemia, Cystic fibrosis, and Sickle cell anemia are prevalent genetic illnesses.

The rarest genetic disorder: According to the Journal of Molecular Medicine, RPI deficiency (Ribose-5 Phosphate isomerase) is the world's rarest genetic condition, with only one documented occurrence in history.