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Loeys–Dietz syndrome - Wikipedia, the free encyclopediaa:lang(ar),a:lang(ckb),a:lang(fa),a:lang(kk-arab),a:lang(mzn),a:lang(ps),a:lang(ur){text-decoration:none}/* cache key: enwiki:resourceloader:filter:minify-css:7:d5a1bf6cbd05fc6cc2705e47f52062dc */if(window.mw){mw.config.set({"wgCanonicalNamespace":"","wgCanonicalSpecialPageName":false,"wgNamespaceNumber":0,"wgPageName":"Loeys–Dietz_syndrome","wgTitle":"Loeys–Dietz syndrome","wgCurRevisionId":443081432,"wgArticleId":6364015,"wgIsArticle":true,"wgAction":"view","wgUserName":null,"wgUserGroups":["*"],"wgCategories":["Vascular diseases","Cell surface receptor deficiencies","Abnormalities of dermal fibrous and elastic tissue","Rare diseases"],"wgBreakFrames":false,"wgPageContentLanguage":"en","wgSeparatorTransformTable":["",""],"wgDigitTransformTable":["",""],"wgRelevantPageName":"Loeys–Dietz_syndrome","wgRestrictionEdit":[],"wgRestrictionMove":[],"wgSearchNamespaces":[0],"wgRedirectedFrom":"Loeys-Dietz_syndrome","wgVectorEnabledModules":{"collapsiblenav":true,"collapsibletabs":true,"editwarning":true,"expandablesearch":false,"footercleanup":false,"sectioneditlinks":false,"simplesearch":true,"experiments":true},"wgWikiEditorEnabledModules":{"toolbar":true,"dialogs":true,"hidesig":true,"templateEditor":false,"templates":false,"preview":false,"previewDialog":false,"publish":false,"toc":false},"wgTrackingToken":"20e6446c7b75d7f7569b529a78e4ffb2","wikilove-recipient":"","wikilove-edittoken":"+\\","wikilove-anon":0,"mbEmailEnabled":true,"mbUserEmail":false,"mbIsEmailConfirmationPending":false,"wgFlaggedRevsParams":{"tags":{"status":{"levels":1,"quality":2,"pristine":3}}},"wgStableRevisionId":null,"wgCategoryTreePageCategoryOptions":"{\"mode\":0,\"hideprefix\":20,\"showcount\":true,\"namespaces\":false}","Geo":{"city":"","country":""},"wgNoticeProject":"wikipedia"});}if(window.mw){mw.loader.implement("user.options",function(){mw.user.options.set({"ccmeonemails":0,"cols":80,"date":"default","diffonly":0,"disablemail":0,"disablesuggest":0,"editfont":"default","editondblclick":0,"editsection":1,"editsectiononrightclick":0,"enotifminoredits":0,"enotifrevealaddr":0,"enotifusertalkpages":1,"enotifwatchlistpages":0,"extendwatchlist":0,"externaldiff":0,"externaleditor":0,"fancysig":0,"forceeditsummary":0,"gender":"unknown","hideminor":0,"hidepatrolled":0,"imagesize":2,"justify":0,"math":0,"minordefault":0,"newpageshidepatrolled":0,"nocache":0,"noconvertlink":0,"norollbackdiff":0,"numberheadings":0,"previewonfirst":0,"previewontop":1,"quickbar":5,"rcdays":7,"rclimit":50,"rememberpassword":0,"rows":25,"searchlimit":20,"showhiddencats":false,"showjumplinks":1,"shownumberswatching":1,"showtoc":1,"showtoolbar":1,"skin":"vector","stubthreshold":0,"thumbsize":4,"underline":2,"uselivepreview":0,"usenewrc":0,"watchcreations":1,"watchdefault":0,"watchdeletion":0,"watchlistdays":3,"watchlisthideanons":0,"watchlisthidebots":0,"watchlisthideliu":0,"watchlisthideminor":0,"watchlisthideown":0,"watchlisthidepatrolled":0,"watchmoves":0,"wllimit":250,"flaggedrevssimpleui":1,"flaggedrevsstable":0,"flaggedrevseditdiffs":true,"flaggedrevsviewdiffs":false,"vector-simplesearch":1,"useeditwarning":1,"vector-collapsiblenav":1,"usebetatoolbar":1,"usebetatoolbar-cgd":1,"wikilove-enabled":1,"variant":"en","language":"en","searchNs0":true,"searchNs1":false,"searchNs2":false,"searchNs3":false,"searchNs4":false,"searchNs5":false,"searchNs6":false,"searchNs7":false,"searchNs8":false,"searchNs9":false,"searchNs10":false,"searchNs11":false,"searchNs12":false,"searchNs13":false,"searchNs14":false,"searchNs15":false,"searchNs100":false,"searchNs101":false,"searchNs108":false,"searchNs109":false,"gadget-teahouse":1,"gadget-mySandbox":1});;},{},{});mw.loader.implement("user.tokens",function(){mw.user.tokens.set({"editToken":"+\\","watchToken":false});;},{},{});/* cache key: enwiki:resourceloader:filter:minify-js:7:15f947b8a5d6ceebd1f399c3a1526c80 */}if(window.mw){mw.loader.load(["mediawiki.page.startup","mediawiki.legacy.wikibits","mediawiki.legacy.ajax"]);} Loeys–Dietz syndrome From Wikipedia, the free encyclopedia (Redirected from Loeys-Dietz syndrome) Jump to: navigation, search Loeys-Dietz syndromeClassification and external resourcesOMIMbelow See belowDiseasesDB34032Loeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).[1][2][3]It was identified and characterized by American physician Harry C. Dietz and Belgian physician Bart L. Loeys, for whom it is named.Contents1 Types2 Symptoms3 Treatment4 See also5 References6 External links[edit] TypesThere are currently two forms of Loeys-Dietz syndrome which are further subdivided into another two forms. The table below will better summarize this:TypeGeneLocusOMIMDescription1ATGFBR19q22609192Also known as Furlong disease1BTGFBR23p226101682ATGFBR19q226089672BTGFBR23p22610380Previously known as Marfan syndrome type 2[edit] SymptomsThe main clinical characteristics include:Widely spaced eyes (orbital hypertelorism)Cleft palate or bifid uvula (a split in the tissue that hangs down in the back of the throat)Aortic and arterial aneurysms/dissections with tortuosity (corkscrew structure) of the arteries.Other findings can include:ScoliosisIndented or protruding chest wall (pectus excavatum or pectus carinatum)Contractures of fingers and toes (camptodactyly)Long fingers and lax jointsClub footPremature fusion of the skull bones (craniosynostosis)Joint hypermobilityCongenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)Translucency of the skin with velvety textureAbnormal junction of the brain and medulla (Arnold-Chiari malformation)Bicuspid aortic valvesMany of the physical findings typical in Loeys-Dietz syndrome are also found in Marfan syndrome cases, including increased risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, and dural ectasia (a gradual stretching and weakening of the dura mater that can cause abdominal and leg pain). However, it also has some additional traits not typical of Marfan patients, including widely spaced eyes, a split uvula in the back of the throat, and skin findings such as easy bruising or abnormal scars.[edit] TreatmentAs there is no known cure, Loeys-Dietz syndrome is a lifelong condition. Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely to monitor aneurysm formation, which can then be corrected with vascular surgery.Previous research in laboratory mice has suggested that the angiotensin II receptor antagonist losartan, which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome. A large clinical trial sponsored by the National Institutes of Health is currently underway to explore the use of losartan to prevent aneurysms in Marfan syndrome patients. Both Marfan syndrome and Loeys-Dietz syndrome are associated with increased TGF-beta signaling in the vessel wall. Therefore, losartan also holds promise for the treatment of Loeys-Dietz syndrome.[edit] See alsoList of cutaneous conditions[edit] References^ Loeys BL, Schwarze U, Holm T, et al (2006). "Aneurysm syndromes caused by mutations in the TGF-beta receptor". N. Engl. J. Med. 355 (8): 788–98. doi:10.1056/NEJMoa055695. PMID 16928994. ^ LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM (2007). "Severe aortic and arterial aneurysms associated with a TGFBR2 mutation". Nature clinical practice. Cardiovascular medicine 4 (3): 167–71. doi:10.1038/ncpcardio0797. PMC 2561071. PMID 17330129. http://www.nature.com/ncpcardio/journal/v4/n3/full/ncpcardio0797.html. ^ Loeys BL, Chen J, Neptune ER, et al (March 2005). "A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2". Nat. Genet. 37 (3): 275–81. doi:10.1038/ng1511. PMID 15731757. [edit] External linksLoeys-Dietz Syndrome Foundationorphan.net LDS-SyndromeGeneReview/NIH/UW entry on Loeys-Dietz SyndromeLoeys-Dietz Syndrome CanadaCleft Lip and Palate Foundation of SmilesvteGenetic disorder, membrane: cell surface receptor deficienciesG protein-coupled receptor(including hormone)Class ATSHR (Congenital hypothyroidism 1) · LHCGR (Male-limited precocious puberty) · FSHR (XX gonadal dysgenesis) · EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) · AVPR2 (Nephrogenic diabetes insipidus 1) · PTGER2 (Aspirin-induced asthma)Class BPTH1R (Jansen's metaphyseal chondrodysplasia)Class CCASR (Familial hypocalciuric hypercalcemia)Class FFZD4 (Familial exudative vitreoretinopathy 1)Enzyme-linked receptor(includinggrowth factor)RTKROR2 (Robinow syndrome) · FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) · FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome) · FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) · INSR (Donohue syndrome · Rabson–Mendenhall syndrome) · NTRK1 (Congenital insensitivity to pain with anhidrosis) · KIT (KIT Piebaldism, Gastrointestinal stromal tumor)STPKAMHR2 (Persistent Mullerian duct syndrome II)TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) · TGFBR1/TGFBR2 (Loeys-Dietz syndrome)GCGUCY2D (Leber's congenital amaurosis 1)JAK-STATType I cytokine receptor: GH (Laron syndrome) · CSF2RA (Surfactant metabolism dysfunction 4)MPL (Congenital amegakaryocytic thrombocytopenia)TNF receptorTNFRSF1A (TNF receptor associated periodic syndrome) · TNFRSF13B (Selective immunoglobulin A deficiency 2) · TNFRSF5 (Hyper-IgM syndrome type 3) · TNFRSF13C (CVID4) · TNFRSF13B (CVID2) · TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)Lipid receptorLRP: LRP2 (Donnai-Barrow syndrome) · LRP4 (Cenani Lenz syndactylism) · LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)LDLR (LDLR Familial hypercholesterolemia)Other/ungroupedImmunoglobulin superfamily: AGM3, 6Integrin: LAD1 · Glanzmann's thrombasthenia · Junctional epidermolysis bullosa with pyloric atresiaEDAR (EDAR Hypohidrotic ectodermal dysplasia) · PTCH1 (Nevoid basal cell carcinoma syndrome) · BMPR1A (BMPR1A Juvenile polyposis syndrome) · IL2RG (X-linked severe combined immunodeficiency)see also cell surface receptorsB structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk Retrieved from "http://en.wikipedia.org/w/index.php?title=Loeys–Dietz_syndrome&oldid=443081432" Categories: Vascular diseasesCell surface receptor deficienciesAbnormalities of dermal fibrous and elastic tissueRare diseases Personal tools Log in / create account Namespaces Article Talk Variants Views Read Edit View history Actions Search  Navigation Main page Contents Featured content Current events Random article Donate to Wikipedia Interaction Help About Wikipedia Community portal Recent changes Contact Wikipedia Toolbox What links here Related changes Upload file Special pages Permanent linkCite this page Print/export Create a bookDownload as PDFPrintable version Languages Français Bahasa Indonesia Polski This page was last modified on 4 August 2011 at 21:28. 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