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Hereditary disorder of connective tissue

MedGen UID:
473110
Concept ID:
C0410787
Disease or Syndrome
Synonym: Hereditary connective tissue disorder
SNOMED CT: Inherited disorder of connective tissue (363045008); Connective tissue hereditary disorder (363045008)
 
Monarch Initiative: MONDO:0023603

Definition

An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary disorder of connective tissue

Professional guidelines

PubMed

Rossi V, Lee B, Marom R
Curr Opin Pediatr 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813. PMID: 31693577Free PMC Article
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group
Lancet Neurol 2018 Apr;17(4):347-361. Epub 2018 Feb 3 doi: 10.1016/S1474-4422(18)30025-5. PMID: 29395990Free PMC Article

Recent clinical studies

Etiology

Loganathan P, Herlihy D, Gajendran M, Gonzalez Z, Chavez LO, Espino K, McCallum RW
J Investig Med 2024 Jan;72(1):162-168. Epub 2023 Nov 18 doi: 10.1177/10815589231210486. PMID: 37858959
Folkestad L, Groth KA, Shanbhogue V, Hove H, Kyhl K, Østergaard JR, Jørgensen NR, Andersen NH, Gravholt CH
J Bone Miner Res 2020 Dec;35(12):2335-2344. Epub 2020 Sep 22 doi: 10.1002/jbmr.4138. PMID: 32706399
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J
Am J Med Genet A 2019 Apr;179(4):561-569. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61055. PMID: 30703284Free PMC Article
Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PT, Bergen AA
Genet Test 2004 Fall;8(3):292-300. doi: 10.1089/gte.2004.8.292. PMID: 15727254
Grahame R, Edwards JC, Pitcher D, Gabell A, Harvey W
Ann Rheum Dis 1981 Dec;40(6):541-6. doi: 10.1136/ard.40.6.541. PMID: 7332373Free PMC Article

Diagnosis

Simmonds JV
Musculoskelet Sci Pract 2022 Feb;57:102465. Epub 2021 Oct 13 doi: 10.1016/j.msksp.2021.102465. PMID: 34808594
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J
Am J Med Genet A 2019 Apr;179(4):561-569. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61055. PMID: 30703284Free 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
Celletti C, Camerota F
Clin Ter 2013;164(4):e325-35. doi: 10.7417/CT.2013.1597. PMID: 24045532
Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PT, Bergen AA
Genet Test 2004 Fall;8(3):292-300. doi: 10.1089/gte.2004.8.292. PMID: 15727254

Therapy

Celletti C, Paolucci T, Maggi L, Volpi G, Billi M, Mollica R, Camerota F
Biomed Res Int 2021;2021:6664864. Epub 2021 Jun 1 doi: 10.1155/2021/6664864. PMID: 34124258Free PMC Article

Prognosis

Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J
Am J Med Genet A 2019 Apr;179(4):561-569. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61055. PMID: 30703284Free PMC Article
Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN
J Mol Cell Cardiol 2006 Feb;40(2):234-46. doi: 10.1016/j.yjmcc.2005.11.009. PMID: 16442122
Babatasi G, Massetti M, Bhoyroo S, Khayat A
Eur J Cardiothorac Surg 1997 Oct;12(4):671-4. doi: 10.1016/s1010-7940(97)00211-x. PMID: 9370418

Clinical prediction guides

Loganathan P, Herlihy D, Gajendran M, Gonzalez Z, Chavez LO, Espino K, McCallum RW
J Investig Med 2024 Jan;72(1):162-168. Epub 2023 Nov 18 doi: 10.1177/10815589231210486. PMID: 37858959
Celletti C, Paolucci T, Maggi L, Volpi G, Billi M, Mollica R, Camerota F
Biomed Res Int 2021;2021:6664864. Epub 2021 Jun 1 doi: 10.1155/2021/6664864. PMID: 34124258Free PMC Article
Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J
Am J Med Genet A 2019 Apr;179(4):561-569. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61055. PMID: 30703284Free PMC Article
Guo G, Rödelsperger C, Digweed M, Robinson PN
Gene 2013 Sep 25;527(2):448-55. Epub 2013 Jul 13 doi: 10.1016/j.gene.2013.07.006. PMID: 23860323
Grahame R, Edwards JC, Pitcher D, Gabell A, Harvey W
Ann Rheum Dis 1981 Dec;40(6):541-6. doi: 10.1136/ard.40.6.541. PMID: 7332373Free PMC Article

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