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monogenic disease
Disease caused by a mutation in a single gene and can be genetically homogeneous or heterogeneous. For instance, in sickle cell disease, every affected individual carries the same mutation in the same gene.
Grammatical category Noun
Field Disease
Level of specialization High
Definition source The New England Journal of Medicine
Variants
Synonym
Mendelian disease
Formal
monogenic disorder
Formal
single-gene disease
Formal
single-gene disorder
Formal
Equivalents

Spanish

alteración monogénica
enfermedad monogénica

Valenciano

malatia monogènica
alteració monogènica
Associated concepts
Type of
genetic disease
Caused by
pathogenic variant in a single gene
mutation in a single gene
Is accompanied by
need for genetic counselling
preimplantation genetic testing for monogenic disorders
risk of transmission to offspring
Examples
The initial idea was to establish a genetic diagnosis of monogenic diseases on IVF embryos and only transfer those who showed to be free of disease in the hope to achieve a healthy pregnancy. 
But, in 2013, several groups showed that NGS is successful for both monogenic diseases (Treff et al., 2013) and aneuploidy detection (Yin et al., 2013).
Collocations
WITH NOUNS
diagnosis of monogenic diseases

neotermed
neotermed_proyecto
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