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CTSC-related disorder

MedGen UID:
1050885
Concept ID:
CN375926
Disease or Syndrome
Synonym: CTSC-related condition
 
Monarch Initiative: MONDO:0800465

Definition

Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance. [from MONDO]

Professional guidelines

PubMed

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Greenberg JA, Hsu J, Bawazeer M, Marshall J, Friedrich JO, Nathens A, Coburn N, May GR, Pearsall E, McLeod RS
Can J Surg 2016 Apr;59(2):128-40. doi: 10.1503/cjs.015015. PMID: 27007094Free PMC Article

Recent clinical studies

Etiology

Gudjonsson A, Gudmundsdottir V, Axelsson GT, Gudmundsson EF, Jonsson BG, Launer LJ, Lamb JR, Jennings LL, Aspelund T, Emilsson V, Gudnason V
Nat Commun 2022 Jan 25;13(1):480. doi: 10.1038/s41467-021-27850-z. PMID: 35078996Free PMC Article
Vermeulen R, Schymanski EL, Barabási AL, Miller GW
Science 2020 Jan 24;367(6476):392-396. doi: 10.1126/science.aay3164. PMID: 31974245Free PMC Article
Dantzer R, O'Connor JC, Freund GG, Johnson RW, Kelley KW
Nat Rev Neurosci 2008 Jan;9(1):46-56. doi: 10.1038/nrn2297. PMID: 18073775Free PMC Article
Smith GD, Ebrahim S
Int J Epidemiol 2003 Feb;32(1):1-22. doi: 10.1093/ije/dyg070. PMID: 12689998
Link BG, Phelan J
J Health Soc Behav 1995;Spec No:80-94. PMID: 7560851

Diagnosis

Kwan J, Vullaganti M
Muscle Nerve 2022 Sep;66(3):240-252. Epub 2022 May 24 doi: 10.1002/mus.27567. PMID: 35607838
Yaghy A
AMA J Ethics 2019 Dec 1;21(12):E1103-1104. doi: 10.1001/amajethics.2019.1103. PMID: 31876476
Stegenga J
Stud Hist Philos Biol Biomed Sci 2015 Dec;54:62-71. Epub 2015 Jul 18 doi: 10.1016/j.shpsc.2015.06.003. PMID: 26199055
Naviaux RK
Mitochondrion 2014 May;16:7-17. Epub 2013 Aug 24 doi: 10.1016/j.mito.2013.08.006. PMID: 23981537
Clark LA, Watson D
J Abnorm Psychol 1991 Aug;100(3):316-36. doi: 10.1037//0021-843x.100.3.316. PMID: 1918611

Therapy

Borghesan M, Hoogaars WMH, Varela-Eirin M, Talma N, Demaria M
Trends Cell Biol 2020 Oct;30(10):777-791. Epub 2020 Aug 13 doi: 10.1016/j.tcb.2020.07.002. PMID: 32800659
Woodcock J, LaVange LM
N Engl J Med 2017 Jul 6;377(1):62-70. doi: 10.1056/NEJMra1510062. PMID: 28679092
Herrera S, Diez-Perez A
Bone 2017 Feb;95:175-182. Epub 2016 Nov 11 doi: 10.1016/j.bone.2016.11.003. PMID: 27840302
Holland EG, Degruy FV
Am Fam Physician 1997 Nov 1;56(7):1781-8, 1791-2. PMID: 9371009
Maier W, Buller R, Philipp M, Heuser I
J Affect Disord 1988 Jan-Feb;14(1):61-8. doi: 10.1016/0165-0327(88)90072-9. PMID: 2963053

Prognosis

Nieto-Barajas LE
Biom J 2020 Sep;62(5):1245-1263. Epub 2020 Feb 12 doi: 10.1002/bimj.201900098. PMID: 32048325
Del Principe D, Marconi M, Matarrese P, Villani A, Malorni W
Curr Mol Med 2013 May;13(4):499-513. doi: 10.2174/1566524011313040004. PMID: 23438904
Kane RL, Shamliyan T, Talley K, Pacala J
J Am Geriatr Soc 2012 May;60(5):896-904. Epub 2012 May 9 doi: 10.1111/j.1532-5415.2012.03942.x. PMID: 22568483
Pressman SD, Cohen S
Psychol Bull 2005 Nov;131(6):925-971. doi: 10.1037/0033-2909.131.6.925. PMID: 16351329
Saliba WI, Natale A
Med Clin North Am 2001 Mar;85(2):267-304. doi: 10.1016/s0025-7125(05)70316-3. PMID: 11233949

Clinical prediction guides

Ducazu O, Degroote H, Geerts A, Hoorens A, Schouten J, Van Vlierberghe H, Verhelst X
Acta Gastroenterol Belg 2021 Jul-Sep;84(3):487-495. doi: 10.51821/84.3.014. PMID: 34599574
Wishart DS, Bartok B, Oler E, Liang KYH, Budinski Z, Berjanskii M, Guo A, Cao X, Wilson M
Nucleic Acids Res 2021 Jan 8;49(D1):D1259-D1267. doi: 10.1093/nar/gkaa1067. PMID: 33245771Free PMC Article
Carroll BJ, Schermerhorn ML, Manning WJ
Heart 2020 Feb;106(3):182-189. Epub 2019 Dec 10 doi: 10.1136/heartjnl-2019-314897. PMID: 31822571
Kane AE, Ayaz O, Ghimire A, Feridooni HA, Howlett SE
Can J Physiol Pharmacol 2017 Oct;95(10):1149-1155. Epub 2017 May 2 doi: 10.1139/cjpp-2017-0025. PMID: 28463656
Agatston AS, Janowitz WR, Hildner FJ, Zusmer NR, Viamonte M Jr, Detrano R
J Am Coll Cardiol 1990 Mar 15;15(4):827-32. doi: 10.1016/0735-1097(90)90282-t. PMID: 2407762

Recent systematic reviews

Biswas S, Gomez J, Horgan R, Sibai BM, Saad A, Powel JE, Al-Kouatly HB
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Balboni TA, VanderWeele TJ, Doan-Soares SD, Long KNG, Ferrell BR, Fitchett G, Koenig HG, Bain PA, Puchalski C, Steinhauser KE, Sulmasy DP, Koh HK
JAMA 2022 Jul 12;328(2):184-197. doi: 10.1001/jama.2022.11086. PMID: 35819420
Slater J, Joober R, Koborsy BL, Mitchell S, Sahlas E, Palmer C
Neurosci Biobehav Rev 2022 Aug;139:104752. Epub 2022 Jun 26 doi: 10.1016/j.neubiorev.2022.104752. PMID: 35760387
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article
Sorensen CJ, DeSanto K, Borgelt L, Phillips KT, Monte AA
J Med Toxicol 2017 Mar;13(1):71-87. Epub 2016 Dec 20 doi: 10.1007/s13181-016-0595-z. PMID: 28000146Free PMC Article

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