"Haploinsufficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
| Descriptor ID |
D057895
|
| MeSH Number(s) |
G05.365.590.029.530.587 G05.380.350.500
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Haploinsufficiency".
Below are MeSH descriptors whose meaning is more specific than "Haploinsufficiency".
This graph shows the total number of publications written about "Haploinsufficiency" by people in this website by year, and whether "Haploinsufficiency" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 2 | 0 | 2 |
| 2011 | 2 | 4 | 6 |
| 2012 | 5 | 9 | 14 |
| 2013 | 0 | 2 | 2 |
| 2014 | 4 | 2 | 6 |
| 2015 | 0 | 4 | 4 |
| 2016 | 4 | 2 | 6 |
| 2017 | 5 | 4 | 9 |
| 2018 | 2 | 7 | 9 |
| 2019 | 2 | 7 | 9 |
| 2020 | 3 | 4 | 7 |
| 2021 | 6 | 9 | 15 |
| 2022 | 0 | 4 | 4 |
| 2023 | 4 | 1 | 5 |
| 2024 | 2 | 6 | 8 |
| 2025 | 4 | 2 | 6 |
| 2026 | 1 | 2 | 3 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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SPEN deficiency contributes to the development of orofacial clefts in humans and mice. Hum Mol Genet. 2026 Jul 15; 35(15).
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De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity. Nat Commun. 2026 07 01; 17(1).
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WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes. Clin Genet. 2026 07; 110(1):29-35.
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Cohesin haploinsufficiency is tolerated in Cbfb::MYH11-driven murine acute myeloid leukemia. Exp Hematol. 2026 Jan; 153:105287.
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Anti-transforming growth factor-? treatment shows increased bone mass and strength in a novel mouse model for osteogenesis imperfecta type I. J Bone Miner Res. 2025 Jun 25; 40(7):881-890.
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Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency. Pediatr Neurol. 2025 Sep; 170:58-65.
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A novel cardiomyopathy phenotype linked to a CHD7 missense variant. Sci Rep. 2025 Jun 03; 15(1):19429.
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DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia. J Clin Immunol. 2025 Mar 28; 45(1):85.
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Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. Cell Rep. 2025 Mar 25; 44(3):115355.
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Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 10 24; 391(16):1511-1518.