Loeys-Dietz Syndrome

"Loeys-Dietz Syndrome" 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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D055947
MeSH 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
Concept/Terms	Loeys-Dietz Syndrome Loeys-Dietz Syndrome Loeys Dietz Syndrome Syndrome, Loeys-Dietz Loeys-Dietz Aortic Aneurysm Syndrome Loeys-Dietz Aortic Aneurysm Syndrome Loeys Dietz Aortic Aneurysm Syndrome Loeys-Dietz Syndrome, Type 1a Loeys Dietz Syndrome, Type 1a

Below are MeSH descriptors whose meaning is more general than "Loeys-Dietz Syndrome".

Diseases [C]
Musculoskeletal Diseases [C05]
Musculoskeletal Abnormalities [C05.660]
Craniofacial Abnormalities [C05.660.207]
Loeys-Dietz Syndrome [C05.660.207.532]
Cardiovascular Diseases [C14]
Vascular Diseases [C14.907]
Aneurysm [C14.907.055]
Aneurysm, Dissecting [C14.907.055.050]
Loeys-Dietz Syndrome [C14.907.055.050.362]
Aortic Aneurysm [C14.907.055.239]
Loeys-Dietz Syndrome [C14.907.055.239.587]
Aortic Diseases [C14.907.109]
Aortic Aneurysm [C14.907.109.139]
Loeys-Dietz Syndrome [C14.907.109.139.587]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Loeys-Dietz Syndrome [C16.131.077.537]
Genetic Diseases, Inborn [C16.320]
Loeys-Dietz Syndrome [C16.320.510]

Below are MeSH descriptors whose meaning is related to "Loeys-Dietz Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Loeys-Dietz Syndrome".

publications

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