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Osteoarthritis susceptibility 3(OS3)

MedGen UID:
382650
Concept ID:
C2675609
Finding
Synonyms: OS3; OSTEOARTHRITIS OF KNEE/HIP
 
Gene (location): ASPN (9q22.31)
 
Monarch Initiative: MONDO:0011923
OMIM®: 607850

Definition

Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene. [from MONDO]

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Osteoarthritis of the first carpometacarpal joint
MedGen UID:
488890
Concept ID:
C0409956
Disease or Syndrome
Osteoarthritis of distal interphalangeal joint
MedGen UID:
140817
Concept ID:
C0409957
Disease or Syndrome
In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints (Stefansson et al., 2003). Patients with osteoarthritis may have one, a few, or all of these sites affected. Heberden nodes are bony excrescences of the phalanges of the distal interphalangeal joints of the fingers (Stecher, 1955). They can be considered a variety of osteoarthrosis, or degenerative arthritis. For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (165720).
Osteoarthritis
MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Joint stiffness
MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.

Professional guidelines

PubMed

Georgiev T, Angelov AK
Rheumatol Int 2019 Jul;39(7):1145-1157. Epub 2019 Mar 25 doi: 10.1007/s00296-019-04290-z. PMID: 30911813
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Loeser RF Jr
Rheum Dis Clin North Am 2000 Aug;26(3):547-67. doi: 10.1016/s0889-857x(05)70156-3. PMID: 10989512

Curated

UK NICE Guideline NG226, Osteoarthritis in over 16s: diagnosis and management, 2022

Recent clinical studies

Etiology

Zeng M, Chen S, Fan T, Yang H, Cao P, Wang Z, Zhang Y, Zhang Y, Hunter D, Yang Q, Ding C, Zhu Z
Lancet Glob Health 2023 Mar;11 Suppl 1:S2. doi: 10.1016/S2214-109X(23)00087-6. PMID: 36866477
O'Connor D, Johnston RV, Brignardello-Petersen R, Poolman RW, Cyril S, Vandvik PO, Buchbinder R
Cochrane Database Syst Rev 2022 Mar 3;3(3):CD014328. doi: 10.1002/14651858.CD014328. PMID: 35238404Free PMC Article
Georgiev T, Angelov AK
Rheumatol Int 2019 Jul;39(7):1145-1157. Epub 2019 Mar 25 doi: 10.1007/s00296-019-04290-z. PMID: 30911813
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article
Derry S, Wiffen PJ, Kalso EA, Bell RF, Aldington D, Phillips T, Gaskell H, Moore RA
Cochrane Database Syst Rev 2017 May 12;5(5):CD008609. doi: 10.1002/14651858.CD008609.pub2. PMID: 28497473Free PMC Article

Diagnosis

Yagupsky P
Curr Pediatr Rev 2019;15(3):154-163. doi: 10.2174/1573396315666190408114653. PMID: 30961502
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free PMC Article
Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH
Acta Orthop 2009 Dec;80(6):711-5. doi: 10.3109/17453670903473032. PMID: 19995321Free PMC Article
Levine M, Siegel LB
Am J Ther 2003 May-Jun;10(3):219-24. doi: 10.1097/00045391-200305000-00009. PMID: 12756429

Therapy

O'Connor D, Johnston RV, Brignardello-Petersen R, Poolman RW, Cyril S, Vandvik PO, Buchbinder R
Cochrane Database Syst Rev 2022 Mar 3;3(3):CD014328. doi: 10.1002/14651858.CD014328. PMID: 35238404Free PMC Article
Hunter DJ, Eyles J, Murphy NJ, Spiers L, Burns A, Davidson E, Dickenson E, Fary C, Foster NE, Fripp J, Griffin DR, Hall M, Kim YJ, Linklater JM, Molnar R, Neubert A, O'Connell RL, O'Donnell J, O'Sullivan M, Randhawa S, Reichenbach S, Schmaranzer F, Singh P, Tran P, Wilson D, Zhang H, Bennell KL
BMC Musculoskelet Disord 2021 Aug 16;22(1):697. doi: 10.1186/s12891-021-04576-z. PMID: 34399702Free PMC Article
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article
Derry S, Wiffen PJ, Kalso EA, Bell RF, Aldington D, Phillips T, Gaskell H, Moore RA
Cochrane Database Syst Rev 2017 May 12;5(5):CD008609. doi: 10.1002/14651858.CD008609.pub2. PMID: 28497473Free PMC Article
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free PMC Article

Prognosis

Loughlin J
Trends Mol Med 2022 Mar;28(3):176-182. Epub 2022 Jan 12 doi: 10.1016/j.molmed.2021.12.007. PMID: 35033441
Georgiev T, Angelov AK
Rheumatol Int 2019 Jul;39(7):1145-1157. Epub 2019 Mar 25 doi: 10.1007/s00296-019-04290-z. PMID: 30911813
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article
Goldring MB, Berenbaum F
Curr Opin Pharmacol 2015 Jun;22:51-63. Epub 2015 Apr 10 doi: 10.1016/j.coph.2015.03.004. PMID: 25863583Free PMC Article
Gibson T
Baillieres Clin Rheumatol 1987 Dec;1(3):583-600. doi: 10.1016/s0950-3579(87)80046-8. PMID: 3135947

Clinical prediction guides

Rahmioglu N, Mortlock S, Ghiasi M, Møller PL, Stefansdottir L, Galarneau G, Turman C, Danning R, Law MH, Sapkota Y, Christofidou P, Skarp S, Giri A, Banasik K, Krassowski M, Lepamets M, Marciniak B, Nõukas M, Perro D, Sliz E, Sobalska-Kwapis M, Thorleifsson G, Topbas-Selcuki NF, Vitonis A, Westergaard D, Arnadottir R, Burgdorf KS, Campbell A, Cheuk CSK, Clementi C, Cook J, De Vivo I, DiVasta A, Dorien O, Donoghue JF, Edwards T, Fontanillas P, Fung JN, Geirsson RT, Girling JE, Harkki P, Harris HR, Healey M, Heikinheimo O, Holdsworth-Carson S, Hostettler IC, Houlden H, Houshdaran S, Irwin JC, Jarvelin MR, Kamatani Y, Kennedy SH, Kepka E, Kettunen J, Kubo M, Kulig B, Kurra V, Laivuori H, Laufer MR, Lindgren CM, MacGregor S, Mangino M, Martin NG, Matalliotaki C, Matalliotakis M, Murray AD, Ndungu A, Nezhat C, Olsen CM, Opoku-Anane J, Padmanabhan S, Paranjpe M, Peters M, Polak G, Porteous DJ, Rabban J, Rexrode KM, Romanowicz H, Saare M, Saavalainen L, Schork AJ, Sen S, Shafrir AL, Siewierska-Górska A, Słomka M, Smith BH, Smolarz B, Szaflik T, Szyłło K, Takahashi A, Terry KL, Tomassetti C, Treloar SA, Vanhie A, Vincent K, Vo KC, Werring DJ, Zeggini E, Zervou MI; DBDS Genomic Consortium; FinnGen Study; FinnGen Endometriosis Taskforce; Celmatix Research Team; 23andMe Research Team, Adachi S, Buring JE, Ridker PM, D'Hooghe T, Goulielmos GN, Hapangama DK, Hayward C, Horne AW, Low SK, Martikainen H, Chasman DI, Rogers PAW, Saunders PT, Sirota M, Spector T, Strapagiel D, Tung JY, Whiteman DC, Giudice LC, Velez-Edwards DR, Uimari O, Kraft P, Salumets A, Nyholt DR, Mägi R, Stefansson K, Becker CM, Yurttas-Beim P, Steinthorsdottir V, Nyegaard M, Missmer SA, Montgomery GW, Morris AP, Zondervan KT
Nat Genet 2023 Mar;55(3):423-436. Epub 2023 Mar 13 doi: 10.1038/s41588-023-01323-z. PMID: 36914876Free PMC Article
Zeng M, Chen S, Fan T, Yang H, Cao P, Wang Z, Zhang Y, Zhang Y, Hunter D, Yang Q, Ding C, Zhu Z
Lancet Glob Health 2023 Mar;11 Suppl 1:S2. doi: 10.1016/S2214-109X(23)00087-6. PMID: 36866477
O'Connor D, Johnston RV, Brignardello-Petersen R, Poolman RW, Cyril S, Vandvik PO, Buchbinder R
Cochrane Database Syst Rev 2022 Mar 3;3(3):CD014328. doi: 10.1002/14651858.CD014328. PMID: 35238404Free PMC Article
Zeng C, Dubreuil M, LaRochelle MR, Lu N, Wei J, Choi HK, Lei G, Zhang Y
JAMA 2019 Mar 12;321(10):969-982. doi: 10.1001/jama.2019.1347. PMID: 30860559Free PMC Article
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free PMC Article

Recent systematic reviews

Liechti R, Merky DN, Grobbelaar AO, van de Wall BJM, Vögelin E, Hirsiger S
Eur J Trauma Emerg Surg 2023 Oct;49(5):2071-2084. Epub 2023 Feb 7 doi: 10.1007/s00068-023-02222-y. PMID: 36750472
O'Connor D, Johnston RV, Brignardello-Petersen R, Poolman RW, Cyril S, Vandvik PO, Buchbinder R
Cochrane Database Syst Rev 2022 Mar 3;3(3):CD014328. doi: 10.1002/14651858.CD014328. PMID: 35238404Free PMC Article
Derry S, Wiffen PJ, Kalso EA, Bell RF, Aldington D, Phillips T, Gaskell H, Moore RA
Cochrane Database Syst Rev 2017 May 12;5(5):CD008609. doi: 10.1002/14651858.CD008609.pub2. PMID: 28497473Free PMC Article
Derry S, Rice AS, Cole P, Tan T, Moore RA
Cochrane Database Syst Rev 2017 Jan 13;1(1):CD007393. doi: 10.1002/14651858.CD007393.pub4. PMID: 28085183Free PMC Article
Jiang L, Tian W, Wang Y, Rong J, Bao C, Liu Y, Zhao Y, Wang C
Joint Bone Spine 2012 May;79(3):291-7. Epub 2011 Jul 30 doi: 10.1016/j.jbspin.2011.05.015. PMID: 21803633

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.

    Curated

    • NICE, 2022
      UK NICE Guideline NG226, Osteoarthritis in over 16s: diagnosis and management, 2022

    Consumer resources

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