Send to:

Choose Destination

Links from PubMed


MedGen UID:
Concept ID:
Organism Attribute
Synonyms: Genetic Heterogeneities; Genetic Heterogeneity; Heterogeneities, Genetic; Heterogeneity, Genetic
HPO: HP:0001425


The presence of apparently similar characters 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) [from MeSH]

Recent systematic reviews

Cadwallader JS, Godart N, Chastang J, Falissard B, Huas C
Eat Weight Disord 2016 Sep;21(3):365-81. Epub 2016 Apr 4 doi: 10.1007/s40519-016-0273-9. PMID: 27043947
Meister R, von Wolff A, Mohr H, Nestoriuc Y, Härter M, Hölzel L, Kriston L
J Clin Epidemiol 2016 Mar;71:97-108. Epub 2015 Oct 19 doi: 10.1016/j.jclinepi.2015.10.007. PMID: 26482955
Röver C, Andreas S, Friede T
Biom J 2016 Jan;58(1):170-85. Epub 2015 May 12 doi: 10.1002/bimj.201300288. PMID: 25962834
Melendez-Torres GJ, Bonell C, Thomas J
BMC Med Res Methodol 2015 Jun 2;15:47. doi: 10.1186/s12874-015-0040-z. PMID: 26032785Free PMC Article
Bhattacharjee S, Rajaraman P, Jacobs KB, Wheeler WA, Melin BS, Hartge P; GliomaScan Consortium., Yeager M, Chung CC, Chanock SJ, Chatterjee N
Am J Hum Genet 2012 May 4;90(5):821-35. doi: 10.1016/j.ajhg.2012.03.015. PMID: 22560090Free PMC Article

Supplemental Content

Table of contents

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center