 Haploinsufficiency
"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
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| MeSH Number(s) |
G05.365.590.029.530.587 G05.380.350.500
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| 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 |
|---|
| 2011 | 0 | 2 | 2 | | 2012 | 0 | 1 | 1 | | 2013 | 1 | 3 | 4 | | 2014 | 1 | 0 | 1 | | 2015 | 0 | 2 | 2 | | 2017 | 0 | 1 | 1 | | 2018 | 0 | 1 | 1 | | 2019 | 2 | 6 | 8 | | 2020 | 0 | 4 | 4 | | 2021 | 3 | 3 | 6 | | 2022 | 0 | 1 | 1 | | 2023 | 1 | 1 | 2 | | 2024 | 2 | 1 | 3 | | 2025 | 1 | 2 | 3 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Tamura S, Nelson AD, Spratt PWE, Hamada EC, Zhou X, Kyoung H, Li Z, Arnould C, Barskyi V, Krupkin B, Young K, Zhao J, Holden SS, Sahagun A, Keeshen CM, Lu C, Ben-Shalom R, Taloma SE, Schamiloglu S, Li YC, Min L, Jenkins PM, Pan JQ, Paz JT, Sanders SJ, Matharu N, Ahituv N, Bender KJ. CRISPR activation for SCN2A-related neurodevelopmental disorders. Nature. 2025 Oct; 646(8086):983-991.
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Miller CM, Morrison JH, Bankers L, Dran R, Kendrick JM, Briggs E, Ferguson VL, Poeschla EM. ADAR1 haploinsufficiency and sustained picornaviral RdRp dsRNA synthesis synergize to dysregulate RNA editing and cause multi-system interferonopathy. mBio. 2025 Aug 13; 16(8):e0149225.
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Strong A, McKenna C, Stals K, Vitobello A, Renaud M, Rieubland C, Guipponi M, Philippe C, Vrana P, Gaskell A, Innes AM, Rippert AL, Ahrens-Nicklas R, Bhoj E, Keller K, Chaudhari BP, Stone BS. Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay. Am J Med Genet A. 2025 Oct; 197(10):e64119.
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Eom TY, Schmitt JE, Li Y, Davenport CM, Steinberg J, Bonnan A, Alam S, Ryu YS, Paul L, Hansen BS, Khairy K, Pelletier S, Pruett-Miller SM, Roalf DR, Gur RE, Emanuel BS, McDonald-McGinn DM, Smith JN, Li C, Christie JM, Northcott PA, Zakharenko SS. Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome. Nat Commun. 2024 12 05; 15(1):10510.
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Voss K, Bartkowiak T, Sewell AE, Chi C, Landis MD, Schaefer S, Pua HH, Connelly JA, Irish JM, Rathmell JC, Kaviany S. Peripheral T Cell Development and Immunophenotyping of Twins with Heterozygous FOXN1 Mutations. Immunohorizons. 2024 07 01; 8(7):492-499.
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Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. Am J Med Genet A. 2024 07; 194(7):e63559.
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Schamiloglu S, Wu H, Zhou M, Kwan AC, Bender KJ. Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency. eNeuro. 2023 12; 10(12).
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Wakatsuki R, Hatai Y, Okamoto K, Kaneko S, Shimbo A, Irabu H, Shimizu M, Kanegane H, Ono M. An infant with A20 haploinsufficiency presenting with periodic fever syndrome: A case report. Int J Rheum Dis. 2023 May; 26(5):973-976.
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Kim YK, Walters JA, Moss ND, Wells KL, Sheridan R, Miranda JG, Benninger RKP, Pyle LL, O'Brien RM, Sussel L, Davidson HW. Zinc transporter 8 haploinsufficiency protects against beta cell dysfunction in type 1 diabetes by increasing mitochondrial respiration. Mol Metab. 2022 12; 66:101632.
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Carvill GL, Matheny T, Hesselberth J, Demarest S. Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology. Neurotherapeutics. 2021 07; 18(3):1500-1514.
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