monogenic disorder

Thân thiện

A genetic counselor explains a monogenic disorder using a simple pedigree chart.

Definition

Noun: A genetic disease or condition that is caused by a mutation or defect in a single gene. These disorders follow clear patterns of inheritance (like autosomal dominant, autosomal recessive, or X-linked) because they are controlled by a single pair of genes.

Usage and Examples

• General Statement:
  • Cystic fibrosis is a classic example of a monogenic disorder.
  • Huntington's disease is a monogenic disorder with an autosomal dominant inheritance pattern.
• In Medical Context:
  • The patient was diagnosed with a rare monogenic disorder affecting enzyme production.
  • Genetic counseling is often recommended for families with a history of a monogenic disorder.

Advanced Usage

• "Mendelian disorder": This is a common synonym in genetics, referencing Gregor Mendel's laws of inheritance which govern the transmission of these single-gene traits.
  • Sickle cell anemia is a well-studied Mendelian disorder.

Variants and Related Words

• Monogenic (adjective): Relating to or controlled by a single gene.
  • The trait showed a simple, monogenic inheritance pattern.
• Polygenic disorder (noun): A contrasting term for a condition influenced by multiple genes and often environmental factors (e.g., heart disease, diabetes).

Synonyms

• Single-gene disorder
• Mendelian disorder
• Single-gene inheritance disease

Related Terms and Concepts

• Autosomal dominant disorder: A type of monogenic disorder where only one copy of the mutated gene (from one parent) is needed to cause the disease.
• Autosomal recessive disorder: A type of monogenic disorder where two copies of the mutated gene (one from each parent) are needed to cause the disease.
• X-linked disorder: A type of monogenic disorder where the mutated gene is located on the X chromosome.

Học thuật

Noun

1. an inherited disease controlled by a single pair of genes

Từ đồng nghĩa

• monogenic disease