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Loeys-Dietz Syndrome MeSH Descriptor Data 2021


MeSH Heading
Loeys-Dietz Syndrome
Tree Number(s)
C05.660.207.532
C14.907.055.050.362
C14.907.055.239.587
C14.907.109.139.587
C16.131.077.537
C16.320.510
Unique ID
D055947
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D055947
Scope Note
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Entry Term(s)
Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome, Type 1a
Previous Indexing
Aortic Aneurysm (2005-2009)
Marfan Syndrome (2005-2009)
See Also
Ehlers-Danlos Syndrome
Marfan Syndrome
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2018/10/10
Loeys-Dietz Syndrome Preferred
Loeys-Dietz Aortic Aneurysm Syndrome Related
Loeys-Dietz Syndrome, Type 1a Narrower
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