"Holoprosencephaly" 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.
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
| Descriptor ID |
D016142
|
| MeSH Number(s) |
C05.660.207.410 C10.500.034.875 C16.131.077.410 C16.131.260.380 C16.131.621.207.410 C16.131.666.034.875 C16.320.180.380
|
| Concept/Terms |
Semilobar Holoprosencephaly- Semilobar Holoprosencephaly
- Holoprosencephalies, Semilobar
- Holoprosencephaly, Semilobar
- Semilobar Holoprosencephalies
Lobar Holoprosencephaly- Lobar Holoprosencephaly
- Holoprosencephalies, Lobar
- Holoprosencephaly, Lobar
- Lobar Holoprosencephalies
Alobar Holoprosencephaly- Alobar Holoprosencephaly
- Alobar Holoprosencephalies
- Holoprosencephalies, Alobar
- Holoprosencephaly, Alobar
- Holoprosencephaly, Familial Alobar
|
Below are MeSH descriptors whose meaning is more general than "Holoprosencephaly".
Below are MeSH descriptors whose meaning is more specific than "Holoprosencephaly".
This graph shows the total number of publications written about "Holoprosencephaly" by people in this website by year, and whether "Holoprosencephaly" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 1 | 1 |
| 2002 | 0 | 1 | 1 |
| 2006 | 1 | 0 | 1 |
| 2009 | 2 | 0 | 2 |
| 2010 | 1 | 1 | 2 |
| 2011 | 0 | 1 | 1 |
| 2012 | 0 | 1 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Holoprosencephaly" by people in Profiles.
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Congenital anomaly. J Paediatr Child Health. 2015 Jul; 51(7):739-40.
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STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet. 2015 Jan; 134(1):45-51.
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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct; 158A(10):2393-406.
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Shh and Gli3 regulate formation of the telencephalic-diencephalic junction and suppress an isthmus-like signaling source in the forebrain. Dev Biol. 2011 Nov 15; 359(2):242-50.
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BMP antagonism protects Nodal signaling in the gastrula to promote the tissue interactions underlying mammalian forebrain and craniofacial patterning. Hum Mol Genet. 2010 Aug 01; 19(15):3030-42.
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Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010 Feb 15; 154C(1):43-51.
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A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A. 2009 May; 149A(5):919-25.
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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet. 2009 Jun; 46(6):389-98.
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Hypernatremia after cleft lip repair in a patient with holoprosencephaly. Anesth Analg. 2006 Mar; 102(3):965-6.
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Chordin and noggin promote organizing centers of forebrain development in the mouse. Development. 2002 Nov; 129(21):4975-87.