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Mixed connective tissue disease(MCTD)

MedGen UID:
10069
•Concept ID:
C0026272
•
Disease or Syndrome
Synonym: MCTD
SNOMED CT: Connective tissue disease overlap syndrome (398021003); Mixed collagen vascular disease (398049005); Sharp's syndrome (398049005); Mixed connective tissue disease (398049005); MCTD - Mixed connective tissue disease (398049005); Sharp syndrome (398049005)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0005854
Orphanet: ORPHA809

Definition

Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMixed connective tissue disease
Follow this link to review classifications for Mixed connective tissue disease in Orphanet.

Professional guidelines

PubMed

Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
Management of Calcinosis Cutis in Rheumatic Diseases.
Elahmar H, Feldman BM, Johnson SR
J Rheumatol 2022 Sep;49(9):980-989. Epub 2022 May 15 doi: 10.3899/jrheum.211393. PMID: 35569832
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Recent clinical studies

Etiology

Prevalence, imaging patterns and risk factors of interstitial lung disease in connective tissue disease: a systematic review and meta-analysis.
Joy GM, Arbiv OA, Wong CK, Lok SD, Adderley NA, Dobosz KM, Johannson KA, Ryerson CJ
Eur Respir Rev 2023 Mar 31;32(167) Epub 2023 Mar 8 doi: 10.1183/16000617.0210-2022. PMID: 36889782Free PMC Article
Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
EULAR recommendations for cardiovascular risk management in rheumatic and musculoskeletal diseases, including systemic lupus erythematosus and antiphospholipid syndrome.
Drosos GC, Vedder D, Houben E, Boekel L, Atzeni F, Badreh S, Boumpas DT, Brodin N, Bruce IN, González-Gay MÁ, Jacobsen S, Kerekes G, Marchiori F, Mukhtyar C, Ramos-Casals M, Sattar N, Schreiber K, Sciascia S, Svenungsson E, Szekanecz Z, Tausche AK, Tyndall A, van Halm V, Voskuyl A, Macfarlane GJ, Ward MM, Nurmohamed MT, Tektonidou MG
Ann Rheum Dis 2022 Jun;81(6):768-779. Epub 2022 Feb 2 doi: 10.1136/annrheumdis-2021-221733. PMID: 35110331
The other connective tissue disease-associated interstitial lung diseases: Sjogren's syndrome, mixed connective tissue disease, and systemic lupus erythematosus.
Lee CT, Strek ME
Curr Opin Pulm Med 2021 Sep 1;27(5):388-395. doi: 10.1097/MCP.0000000000000791. PMID: 34127620Free PMC Article
"Mixed connective tissue disease": a condition in search of an identity.
Alves MR, Isenberg DA
Clin Exp Med 2020 May;20(2):159-166. Epub 2020 Mar 4 doi: 10.1007/s10238-020-00606-7. PMID: 32130548Free PMC Article

Diagnosis

Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
Scleroderma and the Esophagus.
Ahuja NK, Clarke JO
Gastroenterol Clin North Am 2021 Dec;50(4):905-918. doi: 10.1016/j.gtc.2021.08.005. PMID: 34717878
"Mixed connective tissue disease": a condition in search of an identity.
Alves MR, Isenberg DA
Clin Exp Med 2020 May;20(2):159-166. Epub 2020 Mar 4 doi: 10.1007/s10238-020-00606-7. PMID: 32130548Free PMC Article
Mixed connective tissue disease.
Gunnarsson R, Hetlevik SO, Lilleby V, Molberg Ø
Best Pract Res Clin Rheumatol 2016 Feb;30(1):95-111. Epub 2016 Apr 12 doi: 10.1016/j.berh.2016.03.002. PMID: 27421219
Undifferentiated Connective Tissue Disease, Mixed Connective Tissue Disease, and Overlap Syndromes in Rheumatology.
Pepmueller PH
Mo Med 2016 Mar-Apr;113(2):136-40. PMID: 27311225Free PMC Article

Therapy

Prevalence, imaging patterns and risk factors of interstitial lung disease in connective tissue disease: a systematic review and meta-analysis.
Joy GM, Arbiv OA, Wong CK, Lok SD, Adderley NA, Dobosz KM, Johannson KA, Ryerson CJ
Eur Respir Rev 2023 Mar 31;32(167) Epub 2023 Mar 8 doi: 10.1183/16000617.0210-2022. PMID: 36889782Free PMC Article
Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
Membranous Nephropathy: Core Curriculum 2021.
Alsharhan L, Beck LH Jr
Am J Kidney Dis 2021 Mar;77(3):440-453. Epub 2021 Jan 21 doi: 10.1053/j.ajkd.2020.10.009. PMID: 33487481
Mixed connective tissue disease-enigma variations?
Ciang NC, Pereira N, Isenberg DA
Rheumatology (Oxford) 2017 Mar 1;56(3):326-333. doi: 10.1093/rheumatology/kew265. PMID: 27436003
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Prognosis

Pulmonary hypertension in connective tissue diseases: epidemiology, pathogenesis, and treatment.
Cansu DÜ, Korkmaz C
Clin Rheumatol 2023 Oct;42(10):2601-2610. Epub 2022 Nov 17 doi: 10.1007/s10067-022-06446-y. PMID: 36396789
Membranous Nephropathy: Core Curriculum 2021.
Alsharhan L, Beck LH Jr
Am J Kidney Dis 2021 Mar;77(3):440-453. Epub 2021 Jan 21 doi: 10.1053/j.ajkd.2020.10.009. PMID: 33487481
Pulmonary hypertension in connective tissue diseases, new evidence and challenges.
Vonk MC, Vandecasteele E, van Dijk AP
Eur J Clin Invest 2021 Apr;51(4):e13453. Epub 2020 Dec 5 doi: 10.1111/eci.13453. PMID: 33216992Free PMC Article
"Mixed connective tissue disease": a condition in search of an identity.
Alves MR, Isenberg DA
Clin Exp Med 2020 May;20(2):159-166. Epub 2020 Mar 4 doi: 10.1007/s10238-020-00606-7. PMID: 32130548Free PMC Article
Management of interstitial lung disease associated with connective tissue disease.
Mathai SC, Danoff SK
BMJ 2016 Feb 24;352:h6819. doi: 10.1136/bmj.h6819. PMID: 26912511Free PMC Article

Clinical prediction guides

Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping.
Tanaka H, Okada Y, Nakayamada S, Miyazaki Y, Sonehara K, Namba S, Honda S, Shirai Y, Yamamoto K, Kubo S, Ikari K, Harigai M, Sonomoto K, Tanaka Y
Ann Rheum Dis 2024 Jan 11;83(2):242-252. doi: 10.1136/ard-2023-224537. PMID: 37903543Free PMC Article
EULAR recommendations for cardiovascular risk management in rheumatic and musculoskeletal diseases, including systemic lupus erythematosus and antiphospholipid syndrome.
Drosos GC, Vedder D, Houben E, Boekel L, Atzeni F, Badreh S, Boumpas DT, Brodin N, Bruce IN, González-Gay MÁ, Jacobsen S, Kerekes G, Marchiori F, Mukhtyar C, Ramos-Casals M, Sattar N, Schreiber K, Sciascia S, Svenungsson E, Szekanecz Z, Tausche AK, Tyndall A, van Halm V, Voskuyl A, Macfarlane GJ, Ward MM, Nurmohamed MT, Tektonidou MG
Ann Rheum Dis 2022 Jun;81(6):768-779. Epub 2022 Feb 2 doi: 10.1136/annrheumdis-2021-221733. PMID: 35110331
Membranous Nephropathy: Core Curriculum 2021.
Alsharhan L, Beck LH Jr
Am J Kidney Dis 2021 Mar;77(3):440-453. Epub 2021 Jan 21 doi: 10.1053/j.ajkd.2020.10.009. PMID: 33487481
Connective Tissue Disease Related Interstitial Lung Disease.
Schulte JJ, Husain AN
Surg Pathol Clin 2020 Mar;13(1):165-188. doi: 10.1016/j.path.2019.11.005. PMID: 32005430
Mixed connective tissue disease-enigma variations?
Ciang NC, Pereira N, Isenberg DA
Rheumatology (Oxford) 2017 Mar 1;56(3):326-333. doi: 10.1093/rheumatology/kew265. PMID: 27436003

Recent systematic reviews

2023 American College of Rheumatology (ACR)/American College of Chest Physicians (CHEST) Guideline for the Screening and Monitoring of Interstitial Lung Disease in People with Systemic Autoimmune Rheumatic Diseases.
Johnson SR, Bernstein EJ, Bolster MB, Chung JH, Danoff SK, George MD, Khanna D, Guyatt G, Mirza RD, Aggarwal R, Allen A Jr, Assassi S, Buckley L, Chami HA, Corwin DS, Dellaripa PF, Domsic RT, Doyle TJ, Falardeau CM, Frech TM, Gibbons FK, Hinchcliff M, Johnson C, Kanne JP, Kim JS, Lim SY, Matson S, McMahan ZH, Merck SJ, Nesbitt K, Scholand MB, Shapiro L, Sharkey CD, Summer R, Varga J, Warrier A, Agarwal SK, Antin-Ozerkis D, Bemiss B, Chowdhary V, Dematte D'Amico JE, Hallowell R, Hinze AM, Injean PA, Jiwrajka N, Joerns EK, Lee JS, Makol A, McDermott GC, Natalini JG, Oldham JM, Saygin D, Lakin KS, Singh N, Solomon JJ, Sparks JA, Turgunbaev M, Vaseer S, Turner A, Uhl S, Ivlev I
Arthritis Care Res (Hoboken) 2024 Aug;76(8):1070-1082. Epub 2024 Jul 8 doi: 10.1002/acr.25347. PMID: 38973729
Systemic Connective Tissue Disease and Neuromyelitis Optica Spectrum Disorder Coexistence: A Systematic Review and Meta-Analysis.
Esposito JE, Annoni G, D'Amato M, Graziosi A, Troilo F, Di Risio A, Angelini G, Castiglione C, Tocco P, Volpe P, Di Iorio G, Parruti G, Polilli E
J Integr Neurosci 2024 Feb 18;23(2):35. doi: 10.31083/j.jin2302035. PMID: 38419451
Childhood mixed connective tissue disease at disease onset: Evidence from a systematic review.
Terminiello A, Marrani E, Pagnini I, Maccora I, Maniscalco V, Rumeileh SA, Mastrolia MV, Simonini G
Autoimmun Rev 2024 Apr;23(4):103513. Epub 2024 Jan 6 doi: 10.1016/j.autrev.2023.103513. PMID: 38191065
Prevalence, imaging patterns and risk factors of interstitial lung disease in connective tissue disease: a systematic review and meta-analysis.
Joy GM, Arbiv OA, Wong CK, Lok SD, Adderley NA, Dobosz KM, Johannson KA, Ryerson CJ
Eur Respir Rev 2023 Mar 31;32(167) Epub 2023 Mar 8 doi: 10.1183/16000617.0210-2022. PMID: 36889782Free PMC Article
Cardiac involvement in mixed connective tissue disease: a systematic review.
Ungprasert P, Wannarong T, Panichsillapakit T, Cheungpasitporn W, Thongprayoon C, Ahmed S, Raddatz DA
Int J Cardiol 2014 Feb 15;171(3):326-30. Epub 2013 Dec 29 doi: 10.1016/j.ijcard.2013.12.079. PMID: 24433611

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