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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

Bowen JM, Hernandez M, Johnson DS, Green C, Kammin T, Baker D, Keigwin S, Makino S, Taylor N, Watson O, Wheeldon NM, Sobey GJ
Eur J Hum Genet 2023 Jul;31(7):749-760. Epub 2023 Mar 29 doi: 10.1038/s41431-023-01343-7. PMID: 36977837Free PMC Article
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
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
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
Dayal R, Agarwal D
Indian J Pediatr 2016 Jan;83(1):38-43. Epub 2015 Mar 1 doi: 10.1007/s12098-015-1724-4. PMID: 25724501
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697
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

Diagnosis

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
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
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
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
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
Grisanti JM
Am Fam Physician 1990 Jan;41(1):134-42. PMID: 1967198

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
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
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
Combrinck M, Gilbert JD, Byard RW
J Forensic Sci 2011 Mar;56(2):418-22. Epub 2011 Jan 6 doi: 10.1111/j.1556-4029.2010.01647.x. PMID: 21210805
Srinivasan S
Indian J Pediatr 2000 Mar;67(3 Suppl):S20-5. PMID: 11129916

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

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
Bergqvist D, Björck M, Wanhainen A
Ann Surg 2013 Aug;258(2):257-61. doi: 10.1097/SLA.0b013e31829c7a59. PMID: 23751452
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article
Lansford M
Adv Neonatal Care 2008 Dec;8(6):308-14. doi: 10.1097/01.ANC.0000342763.64240.69. PMID: 19060576

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