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Knee pain

MedGen UID:
65421
Concept ID:
C0231749
Sign or Symptom
Synonyms: Arthralgia (knee); Arthralgias (knees); Knee arthralgia; Pain in the knees
SNOMED CT: Pain of joint of knee (1003721002); Pain of knee region (1003722009); Knee pain (1003722009)
 
HPO: HP:0030839

Definition

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKnee pain

Conditions with this feature

Metaphyseal chondrodysplasia, Spahr type
MedGen UID:
140928
Concept ID:
C0432225
Disease or Syndrome
A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.
Deficiency of hyaluronoglucosaminidase
MedGen UID:
226942
Concept ID:
C1291490
Disease or Syndrome
Mucopolysaccharidosis type IX (MPS9) is a rare progressive lysosomal storage disorder caused by the deficiency of the enzyme hyaluronoglucosaminidase-1, which degrades hyaluronan (summary by Imundo et al., 2011).
Epiphyseal dysplasia, multiple, 3
MedGen UID:
322091
Concept ID:
C1832998
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Epiphyseal dysplasia, multiple, 2
MedGen UID:
333092
Concept ID:
C1838429
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Spondyloepiphyseal dysplasia tarda, autosomal dominant
MedGen UID:
355785
Concept ID:
C1866717
Disease or Syndrome
Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.
Hypertrophic osteoarthropathy, primary, autosomal dominant
MedGen UID:
382429
Concept ID:
C2674695
Disease or Syndrome
Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females (Lee et al., 2016; Xu et al., 2021). Touraine et al. (1935) recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes. Genetic Heterogeneity Autosomal recessive forms of PHO have been reported (see 259100), including PHOAR2E (614441), which is also caused by mutation in the SLCO2A1 gene.
Epiphyseal dysplasia, multiple, 6
MedGen UID:
436517
Concept ID:
C2675767
Disease or Syndrome
Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
Vitamin D-dependent rickets, type 2B
MedGen UID:
411667
Concept ID:
C2748783
Disease or Syndrome
Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
MedGen UID:
482430
Concept ID:
C3280800
Disease or Syndrome
PHOAR2-enteropathy syndrome (PHOAR2E) is characterized by primary hypertrophic osteoarthropathy (PHO) and/or chronic nonspecific ulcers (CNSU) of the small intestine. The cardinal features of PHO are digital clubbing, pachydermia, and periostosis; other manifestations include swelling and pain of the large joints, hyperhidrosis, seborrhea, and acne. CNSU often presents with chronic unexplained anemia and abdominal pain, and patients may exhibit edema due to hypoalbuminemia. Radiologic imaging or endoscopy shows multiple small ulcers, predominantly in the ileum, although the stomach, duodenum, and jejunum are often involved. PHO is more frequent and more severe in male patients, who often also report watery diarrhea, whereas CNSU is more often diagnosed in female patients, who may also show features of PHO such as digital clubbing or arthralgias and swelling of the joints. The same mutations in the SLCO2A1 gene have been reported in patients presenting with either diagnosis, and presumed sex-related modifiers of the manifestations of disease or other genotype/phenotype correlates have yet to be elucidated (Li et al., 2017; Umeno et al., 2018; Hong et al., 2022; Kimball et al., 2024). For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100).

Professional guidelines

PubMed

Duong V, Oo WM, Ding C, Culvenor AG, Hunter DJ
JAMA 2023 Oct 24;330(16):1568-1580. doi: 10.1001/jama.2023.19675. PMID: 37874571
Malliaras P, Cook J, Purdam C, Rio E
J Orthop Sports Phys Ther 2015 Nov;45(11):887-98. Epub 2015 Sep 21 doi: 10.2519/jospt.2015.5987. PMID: 26390269
Strauss EJ, Kim S, Calcei JG, Park D
J Am Acad Orthop Surg 2011 Dec;19(12):728-36. doi: 10.5435/00124635-201112000-00003. PMID: 22134205

Recent clinical studies

Etiology

Kısacık P, Tunay VB, Bek N, Atay ÖA, Selfe J, Karaduman AA
J Back Musculoskelet Rehabil 2021;34(6):1093-1104. doi: 10.3233/BMR-200255. PMID: 34024814
Coelho BAL, Rodrigues HLDN, Almeida GPL, João SMA
J Sport Rehabil 2021 Dec 29;30(5):697-706. doi: 10.1123/jsr.2020-0183. PMID: 33373976
Gupta A, Huettner DP, Dukewich M
Pain Physician 2017 Mar;20(3):155-171. PMID: 28339430
Rothermich MA, Glaviano NR, Li J, Hart JM
Clin Sports Med 2015 Apr;34(2):313-27. Epub 2015 Jan 27 doi: 10.1016/j.csm.2014.12.011. PMID: 25818716
Silverwood V, Blagojevic-Bucknall M, Jinks C, Jordan JL, Protheroe J, Jordan KP
Osteoarthritis Cartilage 2015 Apr;23(4):507-15. Epub 2014 Nov 29 doi: 10.1016/j.joca.2014.11.019. PMID: 25447976

Diagnosis

Duong V, Oo WM, Ding C, Culvenor AG, Hunter DJ
JAMA 2023 Oct 24;330(16):1568-1580. doi: 10.1001/jama.2023.19675. PMID: 37874571
Berger GK, Milligan K, Holder EK, Schwab JM, Rubin LE
J Fam Pract 2022 May;71(4):181-184. doi: 10.12788/jfp.0404. PMID: 35730713
Bunt CW, Jonas CE, Chang JG
Am Fam Physician 2018 Nov 1;98(9):576-585. PMID: 30325638
Rothermich MA, Glaviano NR, Li J, Hart JM
Clin Sports Med 2015 Apr;34(2):313-27. Epub 2015 Jan 27 doi: 10.1016/j.csm.2014.12.011. PMID: 25818716
Helfenstein M Jr, Kuromoto J
Rev Bras Reumatol 2010 May-Jun;50(3):313-27. PMID: 21125167

Therapy

Neuhaus C, Appenzeller-Herzog C, Faude O
Phys Ther Sport 2021 May;49:178-187. Epub 2021 Mar 9 doi: 10.1016/j.ptsp.2021.03.002. PMID: 33744766
Safran-Norton CE, Sullivan JK, Irrgang JJ, Kerman HM, Bennell KL, Calabrese G, Dechaves L, Deluca B, Gil AB, Kale M, Luc-Harkey B, Selzer F, Sople D, Tonsoline P, Losina E, Katz JN
BMC Musculoskelet Disord 2019 Nov 4;20(1):514. doi: 10.1186/s12891-019-2872-x. PMID: 31684921Free PMC Article
Hurley M, Dickson K, Hallett R, Grant R, Hauari H, Walsh N, Stansfield C, Oliver S
Cochrane Database Syst Rev 2018 Apr 17;4(4):CD010842. doi: 10.1002/14651858.CD010842.pub2. PMID: 29664187Free PMC Article
Bennell KL, Hunter DJ, Paterson KL
Curr Rheumatol Rep 2017 May;19(5):24. doi: 10.1007/s11926-017-0652-x. PMID: 28386761
van der Heijden RA, Lankhorst NE, van Linschoten R, Bierma-Zeinstra SM, van Middelkoop M
Cochrane Database Syst Rev 2015 Jan 20;1(1):CD010387. doi: 10.1002/14651858.CD010387.pub2. PMID: 25603546Free PMC Article

Prognosis

Coelho BAL, Rodrigues HLDN, Almeida GPL, João SMA
J Sport Rehabil 2021 Dec 29;30(5):697-706. doi: 10.1123/jsr.2020-0183. PMID: 33373976
Smith BE, Selfe J, Thacker D, Hendrick P, Bateman M, Moffatt F, Rathleff MS, Smith TO, Logan P
PLoS One 2018;13(1):e0190892. Epub 2018 Jan 11 doi: 10.1371/journal.pone.0190892. PMID: 29324820Free PMC Article
Rothermich MA, Glaviano NR, Li J, Hart JM
Clin Sports Med 2015 Apr;34(2):313-27. Epub 2015 Jan 27 doi: 10.1016/j.csm.2014.12.011. PMID: 25818716
Herman K, Barton C, Malliaras P, Morrissey D
BMC Med 2012 Jul 19;10:75. doi: 10.1186/1741-7015-10-75. PMID: 22812375Free PMC Article
Blagojevic M, Jinks C, Jeffery A, Jordan KP
Osteoarthritis Cartilage 2010 Jan;18(1):24-33. Epub 2009 Sep 2 doi: 10.1016/j.joca.2009.08.010. PMID: 19751691

Clinical prediction guides

Cai Y, Deng Y, Ou L, Guo Y, Guo Y
Medicine (Baltimore) 2023 Jun 16;102(24):e33945. doi: 10.1097/MD.0000000000033945. PMID: 37327282Free PMC Article
Wang Y, Li X, Zhang Y, Ma Y, Xu S, Shuai Z, Pan F, Cai G
Arthritis Care Res (Hoboken) 2023 Oct;75(10):2134-2141. Epub 2023 May 6 doi: 10.1002/acr.25127. PMID: 37038964Free PMC Article
Epelboym Y, Mandell JC, Collins JE, Burch E, Shiang T, Killoran T, Macfarlane L, Guermazi A
Cardiovasc Intervent Radiol 2023 Jun;46(6):760-769. Epub 2023 Mar 29 doi: 10.1007/s00270-023-03422-0. PMID: 36991094
Kısacık P, Tunay VB, Bek N, Atay ÖA, Selfe J, Karaduman AA
J Back Musculoskelet Rehabil 2021;34(6):1093-1104. doi: 10.3233/BMR-200255. PMID: 34024814
Hott A, Liavaag S, Juel NG, Brox JI
BMC Musculoskelet Disord 2015 Feb 25;16:40. doi: 10.1186/s12891-015-0493-6. PMID: 25879452Free PMC Article

Recent systematic reviews

Pereira PM, Baptista JS, Conceição F, Duarte J, Ferraz J, Costa JT
Int J Environ Res Public Health 2022 Jul 28;19(15) doi: 10.3390/ijerph19159241. PMID: 35954598Free PMC Article
Dainese P, Wyngaert KV, De Mits S, Wittoek R, Van Ginckel A, Calders P
Osteoarthritis Cartilage 2022 Apr;30(4):516-534. Epub 2021 Dec 27 doi: 10.1016/j.joca.2021.12.003. PMID: 34968719
Neuhaus C, Appenzeller-Herzog C, Faude O
Phys Ther Sport 2021 May;49:178-187. Epub 2021 Mar 9 doi: 10.1016/j.ptsp.2021.03.002. PMID: 33744766
Smith BE, Selfe J, Thacker D, Hendrick P, Bateman M, Moffatt F, Rathleff MS, Smith TO, Logan P
PLoS One 2018;13(1):e0190892. Epub 2018 Jan 11 doi: 10.1371/journal.pone.0190892. PMID: 29324820Free PMC Article
Timmins KA, Leech RD, Batt ME, Edwards KL
Am J Sports Med 2017 May;45(6):1447-1457. Epub 2016 Aug 20 doi: 10.1177/0363546516657531. PMID: 27519678

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