U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Beldner S, Rabinovich RV, Polatsch DB
J Am Acad Orthop Surg 2020 Aug 15;28(16):e686-e695. doi: 10.5435/JAAOS-D-19-00547. PMID: 32769717
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

Zucchi D, Elefante E, Calabresi E, Signorini V, Bortoluzzi A, Tani C
Clin Exp Rheumatol 2019 Sep-Oct;37(5):715-722. Epub 2019 Jul 19 PMID: 31376267
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
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
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

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
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
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
Sibrack LA, Mazur EM, Hoffman R, Bollet AJ
Clin Rheum Dis 1982 Aug;8(2):443-54. PMID: 6754236

Prognosis

Zucchi D, Elefante E, Calabresi E, Signorini V, Bortoluzzi A, Tani C
Clin Exp Rheumatol 2019 Sep-Oct;37(5):715-722. Epub 2019 Jul 19 PMID: 31376267
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
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

Rapoport M, Bober MB, Raggio C, Wekre LL, Rauch F, Westerheim I, Hart T, van Welzenis T, Mistry A, Clancy J, Booth L, Prince S, Semler O
Orphanet J Rare Dis 2023 Feb 22;18(1):34. doi: 10.1186/s13023-023-02627-3. PMID: 36814274Free 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
El Masri H, Loong TH, Meurette G, Podevin J, Zinzindohoue F, Lehur PA
Tech Coloproctol 2018 May;22(5):333-341. Epub 2018 Apr 26 doi: 10.1007/s10151-018-1783-4. PMID: 29700641
Bergqvist D, Björck M, Wanhainen A
Ann Surg 2013 Aug;258(2):257-61. doi: 10.1097/SLA.0b013e31829c7a59. PMID: 23751452

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...