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MCID: LYS001
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Loeys-dietz Syndrome malady |
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Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner. with variable clinical expression.This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. Mutations in the TGFBR1 and the TGFBR2 gene have been found to cause both types of Loeys-Dietz syndrome.30
MalaCards: Loeys-dietz Syndrome, also known as loeys-dietz aortic aneurysm syndrome, is related to marfan syndrome and aortic aneurysm. An important gene associated with Loeys-dietz Syndrome is TGFBR1 (transforming growth factor, beta receptor 1), and among its related pathways are Downregulation of TGF-beta receptor signaling and Cytokine production by Th17 cells in CF (Mouse model). The compounds taad and tgf beta1 have been mentioned in the context of this disorder. Affiliated tissues include brain and heart, and related mouse phenotype cardiovascular system. Genetics Home Reference: Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.17 GeneReviews summary for loeys-dietz |
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Sources: 6Disease Ontology, 7diseasecard, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 43UMLS, 33OMIM, 24MeSH See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for loeys-dietz syndrome Drug clinical trials:Search ClinicalTrials for loeys-dietz syndrome Search NIH Clinical Center for loeys-dietz syndrome Search CenterWatch for loeys-dietz syndrome |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to loeys-dietz syndrome:22Brain, Heart
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Sources: 25MGI See all sources |
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Sources: 35PubMed See all sources |
Articles related to loeys-dietz syndrome:(show all 15)
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 41Thomson Reuters, 37R&D Systems, 20KEGG, 10EMD Millipore, 3Cell Signaling Technology, 36QIAGEN See all sources |
Pathways related to loeys-dietz syndrome according to GeneDecks:(show all 16)
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Sources: 32Novoseek See all sources |
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Sources: 12Gene Ontology See all sources |
Cellular components related to loeys-dietz syndrome according to GeneDecks:
Biological processes related to loeys-dietz syndrome according to GeneDecks:(show all 8)
Molecular functions related to loeys-dietz syndrome according to GeneDecks:
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