Agenesis of Corpus Callosum
"Agenesis of Corpus Callosum" 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.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
| Descriptor ID |
D061085
|
| MeSH Number(s) |
C10.500.034 C16.131.666.034 C23.300.008
|
| Concept/Terms |
Agenesis of Corpus Callosum- Agenesis of Corpus Callosum
- Corpus Callosum Ageneses
- Corpus Callosum, Agenesis Of
- Corpus Callosum Dysgenesis
- Corpus Callosum Dysgeneses
- Dysgeneses, Corpus Callosum
- Dysgenesis, Corpus Callosum
- Absence of Corpus Callosum
- Corpus Callosum Absence
- Corpus Callosum Absences
- Corpus Callosum Agenesis
- Ageneses, Corpus Callosum
- Agenesis, Corpus Callosum
- Corpus Callosum Hypogenesis
- Corpus Callosum Hypogeneses
- Hypogeneses, Corpus Callosum
- Hypogenesis, Corpus Callosum
|
Below are MeSH descriptors whose meaning is more general than "Agenesis of Corpus Callosum".
Below are MeSH descriptors whose meaning is more specific than "Agenesis of Corpus Callosum".
This graph shows the total number of publications written about "Agenesis of Corpus Callosum" by people in this website by year, and whether "Agenesis of Corpus Callosum" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1996 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2000 | 0 | 1 | 1 |
| 2003 | 2 | 0 | 2 |
| 2004 | 0 | 2 | 2 |
| 2007 | 1 | 0 | 1 |
| 2010 | 1 | 1 | 2 |
| 2011 | 2 | 0 | 2 |
| 2012 | 1 | 0 | 1 |
| 2013 | 1 | 1 | 2 |
| 2014 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2021 | 1 | 1 | 2 |
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Below are the most recent publications written about "Agenesis of Corpus Callosum" by people in Profiles.
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Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med. 2022 02; 24(2):319-331.
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 05 06; 108(5):951-961.
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5.
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Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum. Cell Rep. 2016 10 11; 17(3):735-747.
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Structural connectivity analysis reveals abnormal brain connections in agenesis of the corpus callosum in children. Eur Radiol. 2015 May; 25(5):1471-8.
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 2013; 9(10):e1003823.
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Lesions of the corpus callosum. AJR Am J Roentgenol. 2013 Jan; 200(1):W1-16.
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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 2012 Sep 18; 79(12):1244-51.
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A. 2011 Aug; 155A(8):1865-76.
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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25; 76(4):373-82.