monogenic disease

Thân thiện

A doctor explains monogenic disease using a simple family tree chart.

Definition

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

Usage

The term is used in medical genetics to classify and describe disorders with a simple, direct genetic cause, as opposed to complex diseases influenced by multiple genes and environmental factors.

Examples

Advanced Usage

• "Monogenic disorder": Often used interchangeably with "monogenic disease."
  • Huntington's disease is a well-studied monogenic disorder.

Variants and Related Words

• Monogenic (adjective): Relating to or controlled by a single gene.
  • The trait showed a monogenic pattern of inheritance.
• Polygenic disease (noun): A disease influenced by multiple genes, serving as a conceptual opposite.
  • In contrast to a monogenic disease, type 2 diabetes is considered a polygenic disease.

Synonyms

• Single-gene disorder
• Mendelian disorder (referring to inheritance patterns described by Gregor Mendel)

Related Phrases

• "Caused by a single gene defect": A descriptive phrase for monogenic disease.
  • The condition was identified as being caused by a single gene defect.

Học thuật

Noun

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

Từ đồng nghĩa

• monogenic disorder