monogenic disease
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.
Noun
-
an inherited disease controlled by a single pair of genes
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