Autosomal Recessive Disease (Noun)

Meaning

A disease caused by the presence of two recessive mutant genes on an autosome.

Classification

Nouns denoting natural processes.

Examples

• Cystic fibrosis is an autosomal recessive disease caused by a point mutation in the CFTR gene that leads to a thickening of mucus production.
• A child must inherit two copies of the mutated gene, one from each parent, to develop the autosomal recessive disease known as Tay-Sachs disease.
• This inherited disorder is an example of an autosomal recessive disease, meaning that a person has to inherit two mutated copies of the HBB gene, one from each parent, to express the disease.
• Thalassemia is an autosomal recessive disease caused by variants of the genes that code for hemoglobin.
• Gaucher's disease is an autosomal recessive disease, caused by a deficiency in the enzyme glucocerebrosidase due to a genetic mutation.

Synonyms

• Autosomal Recessive Defect

Hypernyms

• Inherited Disorder
• Hereditary Disease
• Inherited Disease
• Genetic Abnormality
• Genetic Defect
• Congenital Disease
• Hereditary Condition
• Genetic Disorder

Hyponyms

• Tay-Sachs
• Sachs Disease
• Infantile Amaurotic Idiocy