Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
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
About Release Notes Help Feedback
International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.1.0

Last updated: December 9, 2024