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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

Expert consensus on the management of systemic sclerosis-associated interstitial lung disease.
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
Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.
Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Loeys-Dietz syndrome: a primer for diagnosis and management.
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

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.
Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765Free PMC Article
Connective Tissue Disorder-Associated Vasculitis.
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
Fever in Children and Fever of Unknown Origin.
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
Idiopathic inflammatory myopathies.
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
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Diagnosis

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
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
Pathophysiology and Pathogenesis of Marfan Syndrome.
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
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.
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
Fever in Children and Fever of Unknown Origin.
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
Marfan's syndrome: an overview.
Yuan SM, Jing H
Sao Paulo Med J 2010 Dec;128(6):360-6. doi: 10.1590/s1516-31802010000600009. PMID: 21308160Free PMC Article

Therapy

Expert consensus on the management of systemic sclerosis-associated interstitial lung disease.
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
Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.
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
Colony-stimulating factor 1 receptor (CSF1R) inhibitors in cancer therapy.
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
Systemic lupus erythematosus.
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
Osteogenesis imperfecta.
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585

Prognosis

Immunogenetics of Systemic Sclerosis.
Gumkowska-Sroka O, Kotyla K, Kotyla P
Genes (Basel) 2024 May 5;15(5) doi: 10.3390/genes15050586. PMID: 38790215Free PMC Article
Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.
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
Connective Tissue Disorder-Associated Vasculitis.
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
Idiopathic inflammatory myopathies.
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
Fetal echocardiography.
Srinivasan S
Indian J Pediatr 2000 Mar;67(3 Suppl):S20-5. PMID: 11129916

Clinical prediction guides

Expert consensus on the management of systemic sclerosis-associated interstitial lung disease.
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
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
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-Loeys Syndrome.
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
Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.
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
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
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

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.
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
Bone Fragility in Hereditary Connective Tissue Disorders: A Systematic Review and Meta-Analysis.
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
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
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
Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review.
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
Prostacyclin for pulmonary hypertension in adults.
Paramothayan NS, Lasserson TJ, Wells AU, Walters EH
Cochrane Database Syst Rev 2005 Apr 18;2005(2):CD002994. doi: 10.1002/14651858.CD002994.pub2. PMID: 15846646Free PMC Article

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