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Connective tissue disorder

MedGen UID:
1098
Concept ID:
C0009782
Disease or Syndrome
Synonym: Connective tissue disease
SNOMED CT: Connective tissue disease (105969002); Disorder of connective tissue (105969002)
 
Monarch Initiative: MONDO:0003900

Definition

A non-neoplastic or neoplastic disorder that affects the connective tissue. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Connective tissue disorder

Professional guidelines

PubMed

Rahaghi FF, Hsu VM, Kaner RJ, Mayes MD, Rosas IO, Saggar R, Steen VD, Strek ME, Bernstein EJ, Bhatt N, Castelino FV, Chung L, Domsic RT, Flaherty KR, Gupta N, Kahaleh B, Martinez FJ, Morrow LE, Moua T, Patel N, Shlobin OA, Southern BD, Volkmann ER, Khanna D
Respir Res 2023 Jan 9;24(1):6. doi: 10.1186/s12931-022-02292-3. PMID: 36624431Free PMC Article
Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd
Genet Med 2014 Aug;16(8):576-87. Epub 2014 Feb 27 doi: 10.1038/gim.2014.11. PMID: 24577266Free PMC Article

Recent clinical studies

Etiology

Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Iskandar Z, Mordi I, Lang CC, Huang JTJ, Choy AM
Cardiol Rev 2020 Mar/Apr;28(2):92-97. doi: 10.1097/CRD.0000000000000289. PMID: 31985522
Sharma A, Dhooria A, Aggarwal A, Rathi M, Chandran V
Curr Rheumatol Rep 2016 Jun;18(6):31. doi: 10.1007/s11926-016-0584-x. PMID: 27097818
Setacci C, Galzerano G, Setacci F, Mazzitelli G, de Donato G, Ricci C
J Cardiovasc Surg (Torino) 2015 Dec;56(6):899-904. Epub 2015 Sep 8 PMID: 26350976
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Diagnosis

Meester JAN, De Kinderen P, Verstraeten A, Loeys B
Adv Exp Med Biol 2021;1348:265-272. doi: 10.1007/978-3-030-80614-9_12. PMID: 34807424
Zeigler SM, Sloan B, Jones JA
Adv Exp Med Biol 2021;1348:185-206. doi: 10.1007/978-3-030-80614-9_8. PMID: 34807420Free PMC Article
Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):48-69. Epub 2017 Feb 1 doi: 10.1002/ajmg.c.31538. PMID: 28145611
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd
Genet Med 2014 Aug;16(8):576-87. Epub 2014 Feb 27 doi: 10.1038/gim.2014.11. PMID: 24577266Free PMC Article
Yuan SM, Jing H
Sao Paulo Med J 2010 Dec;128(6):360-6. doi: 10.1590/s1516-31802010000600009. PMID: 21308160Free PMC Article

Therapy

Rahaghi FF, Hsu VM, Kaner RJ, Mayes MD, Rosas IO, Saggar R, Steen VD, Strek ME, Bernstein EJ, Bhatt N, Castelino FV, Chung L, Domsic RT, Flaherty KR, Gupta N, Kahaleh B, Martinez FJ, Morrow LE, Moua T, Patel N, Shlobin OA, Southern BD, Volkmann ER, Khanna D
Respir Res 2023 Jan 9;24(1):6. doi: 10.1186/s12931-022-02292-3. PMID: 36624431Free PMC Article
Cannarile MA, Weisser M, Jacob W, Jegg AM, Ries CH, Rüttinger D
J Immunother Cancer 2017 Jul 18;5(1):53. doi: 10.1186/s40425-017-0257-y. PMID: 28716061Free PMC Article
Loeys BL
Drug Discov Today 2015 Feb;20(2):262-6. Epub 2014 Oct 2 doi: 10.1016/j.drudis.2014.09.022. PMID: 25281853
Dörner T, Shock A, Smith KG
Int Rev Immunol 2012 Oct;31(5):363-78. doi: 10.3109/08830185.2012.709890. PMID: 23083346
D'Cruz DP, Khamashta MA, Hughes GR
Lancet 2007 Feb 17;369(9561):587-96. doi: 10.1016/S0140-6736(07)60279-7. PMID: 17307106

Prognosis

Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
Setacci C, Galzerano G, Setacci F, Mazzitelli G, de Donato G, Ricci C
J Cardiovasc Surg (Torino) 2015 Dec;56(6):899-904. Epub 2015 Sep 8 PMID: 26350976
van der Kooi AJ, de Visser M
Handb Clin Neurol 2014;119:495-512. doi: 10.1016/B978-0-7020-4086-3.00032-1. PMID: 24365315
Srinivasan S
Indian J Pediatr 2000 Mar;67(3 Suppl):S20-5. PMID: 11129916
Mercer JF
Am J Clin Nutr 1998 May;67(5 Suppl):1022S-1028S. doi: 10.1093/ajcn/67.5.1022S. PMID: 9587146

Clinical prediction guides

Rahaghi FF, Hsu VM, Kaner RJ, Mayes MD, Rosas IO, Saggar R, Steen VD, Strek ME, Bernstein EJ, Bhatt N, Castelino FV, Chung L, Domsic RT, Flaherty KR, Gupta N, Kahaleh B, Martinez FJ, Morrow LE, Moua T, Patel N, Shlobin OA, Southern BD, Volkmann ER, Khanna D
Respir Res 2023 Jan 9;24(1):6. doi: 10.1186/s12931-022-02292-3. PMID: 36624431Free PMC Article
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Meester JAN, De Kinderen P, Verstraeten A, Loeys B
Adv Exp Med Biol 2021;1348:265-272. doi: 10.1007/978-3-030-80614-9_12. PMID: 34807424
Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Recent systematic reviews

Mc Donald D, Mc Donnell T, Martin-Grace J, Mc Manus G, Crowley RK
Orphanet J Rare Dis 2023 Feb 22;18(1):36. doi: 10.1186/s13023-023-02643-3. PMID: 36814291Free PMC Article
Charoenngam N, Rittiphairoj T, Ponvilawan B, Jaroenlapnopparat A, Waitayangkoon P, Suppakitjanusant P, Prasitsumrit V, Pongchaiyakul C, Holick MF
Endocr Pract 2023 Jul;29(7):589-600. Epub 2023 Feb 17 doi: 10.1016/j.eprac.2023.02.003. PMID: 36804968
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Treurniet S, Burger P, Ghyczy EAE, Verbraak FD, Curro-Tafili KR, Micha D, Bravenboer N, Ralston SH, de Vries R, Moll AC, Eekhoff EMW
Acta Ophthalmol 2022 Feb;100(1):e16-e28. Epub 2021 May 19 doi: 10.1111/aos.14882. PMID: 34009739Free PMC Article
Lynch CP, Patel M, Seeley AH, Seeley MA
J Am Acad Orthop Surg Glob Res Rev 2021 Nov 15;5(11) doi: 10.5435/JAAOSGlobal-D-21-00087. PMID: 34779796Free PMC Article

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