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Standards Ontologies Notations
Loeys-Dietz syndrome

Summary
Definition
A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0050466
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
7042 TGFB2 transforming growth factor beta 2
7046 TGFBR1 transforming growth factor beta receptor 1
7048 TGFBR2 transforming growth factor beta receptor 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
21808 Tgfb2 transforming growth factor, beta 2
21812 Tgfbr1 transforming growth factor, beta receptor I
21813 Tgfbr2 transforming growth factor, beta receptor II
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29591 Tgfbr1 transforming growth factor, beta receptor 1
81809 Tgfb2 transforming growth factor, beta 2
81810 Tgfbr2 transforming growth factor, beta receptor 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
174044 sma-6 Serine/threonine-protein kinase receptor sma-6
175781 daf-4 Cell surface receptor daf-4;Serine/threonine-protein kinase receptor;receptor protein serine/threonine kinase
176829 daf-1 Cell surface receptor daf-1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024