Genetic Heterogeneity (also known as Heterogeneity, Genetic, Genetic Heterogeneities): The presence of apparently similar characteristics for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers t

NIH MeSH · D018740Phenomena and Processes

Genetic Heterogeneity

Also known asHeterogeneity, Genetic · Genetic Heterogeneities · Heterogeneities, Genetic · Allelic Heterogeneity · Heterogeneity, Allelic · Locus Heterogeneity

Definition

The presence of apparently similar characteristics for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

MeSH classification

  • G05.365.331

Need clinical context, treatments, or patient-language explanation?

Ask GoDavaii AI about Genetic Heterogeneity

Related concepts

Allelic Imbalance

A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.

Antibody Diversity

The phenomenon of immense variability characteristic of ANTIBODIES. It enables the IMMUNE SYSTEM to react specifically against the essential…

Antigenic Drift and Shift

Changes in the ANTIGEN population by slow and minor (antigenic drift) or sudden and major mutations (antigenic shift). Accumulation of minor…

Antigenic Variation

Change in the surface ANTIGEN of a microorganism. There are two different types. One is a phenomenon, especially associated with INFLUENZA V…

Base Pair Mismatch

The presence of an non-complementary base in double-stranded DNA (DNA mismatch) caused by spontaneous deamination of cytosine or adenine, mi…

Common questions about Genetic Heterogeneity

What does Genetic Heterogeneity mean in medicine?
The presence of apparently similar characteristics for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Genetic Heterogeneity known by any other names?
Yes. Genetic Heterogeneity is also referred to as Heterogeneity, Genetic, Genetic Heterogeneities, Heterogeneities, Genetic, Allelic Heterogeneity in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Genetic Heterogeneity sit in the medical classification?
Genetic Heterogeneity falls under the broader medical category "Phenomena and Processes" in the MeSH hierarchy (tree numbers: G05.365.331). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Genetic Heterogeneity?
For a plain-language explanation of Genetic Heterogeneity - including symptoms, treatments and what it means for an Indian patient - ask GoDavaii's Health AI. It works in 22+ Indian languages, is free and needs no signup. Tap "Ask GoDavaii AI about Genetic Heterogeneity" above.

Source: NIH MeSH 2026 (D018740) — National Library of Medicine, public domain. View official MeSH record ↗