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MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Arthropathies; Joint Disease; Joint Diseases
SNOMED CT: Arthropathy (399269003); Arthrosis (399269003); Joint disorder (399269003); Joint disease (399269003); Disorder of joint (399269003)
HPO: HP:0003040
Monarch Initiative: MONDO:0006816


Any disorder of the joints. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArthropathy

Conditions with this feature

MedGen UID:
Concept ID:
Disease or Syndrome
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.
Congenital sensory neuropathy with selective loss of small myelinated fibers
MedGen UID:
Concept ID:
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.\n\nThe signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.
Adult hypophosphatasia
MedGen UID:
Concept ID:
Disease or Syndrome
Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.
Progressive pseudorheumatoid dysplasia
MedGen UID:
Concept ID:
Congenital Abnormality
Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress.
Winchester syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).
Chondrocalcinosis 2
MedGen UID:
Concept ID:
Disease or Syndrome
Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of Chondrocalcinosis Another form of chondrocalcinosis (CCAL1; 600668) has been mapped to chromosome 8q.
Spondyloepiphyseal dysplasia with congenital joint dislocations
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Concept ID:
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.
Familial digital arthropathy-brachydactyly
MedGen UID:
Concept ID:
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Stickler syndrome type 2
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Concept ID:
Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000).
Stickler syndrome type 1
MedGen UID:
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Disease or Syndrome
Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.
Aicardi-Goutieres syndrome 5
MedGen UID:
Concept ID:
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Hemochromatosis type 1
MedGen UID:
Concept ID:
Disease or Syndrome
HFE hemochromatosis is characterized by inappropriately high absorption of iron by the small intestinal mucosa. The phenotypic spectrum of HFE hemochromatosis includes: Persons with clinical HFE hemochromatosis, in whom manifestations of end-organ damage secondary to iron overload are present; Individuals with biochemical HFE hemochromatosis, in whom transferrin-iron saturation is increased and the only evidence of iron overload is increased serum ferritin concentration; and Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE hemochromatosis nor iron overload are present. Clinical HFE hemochromatosis is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and anterior pituitary gland. In untreated individuals, early symptoms include: abdominal pain, weakness, lethargy, weight loss, arthralgias, diabetes mellitus; and increased risk of cirrhosis when the serum ferritin is higher than 1,000 ng/mL. Other findings may include progressive increase in skin pigmentation, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE hemochromatosis is more common in men than women.
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by Uppal et al., 2008; Radhakrishnan et al., 2020). Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic Heterogeneity PHOAR2 (614441) is caused by mutation in the SLCO2A1 gene (601460) on chromosome 3q22. Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD; 167100).
Hyper-IgE recurrent infection syndrome 4, autosomal recessive
MedGen UID:
Concept ID:
Disease or Syndrome
Hyper-IgE syndrome-4B with recurrent infections (HIES4B) is an autosomal recessive immunologic disorder characterized by early childhood onset of recurrent infections and skeletal abnormalities, including craniosynostosis and scoliosis. Patients are mainly susceptible to bacterial infections that affect the respiratory tract, skin, and eye. Immunologic workup shows increased serum IgE, intermittent eosinophilia, and impaired IL6 (147620) and IL27 (608273) downstream signaling that affects the development and function of certain B- and T-cell populations, as well as the acute-phase response; IL11 (147681) signaling in fibroblasts is also affected (summary by Shahin et al., 2019). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020).

Professional guidelines


European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2022 Aug;77(2):479-502. Epub 2022 Jun 1 doi: 10.1016/j.jhep.2022.03.033. PMID: 35662478
Páramo JA
Med Clin (Barc) 2021 Dec 24;157(12):583-587. Epub 2021 Sep 9 doi: 10.1016/j.medcli.2021.04.031. PMID: 34509300
Cohen SP, Hooten WM
BMJ 2017 Aug 14;358:j3221. doi: 10.1136/bmj.j3221. PMID: 28807894

Recent clinical studies


Rosemberg DL, Sposeto RB, Godoy-Santos AL
Foot Ankle Clin 2022 Dec;27(4):835-846. doi: 10.1016/j.fcl.2022.08.005. PMID: 36368800
Gualtierotti R, Solimeno LP, Peyvandi F
J Thromb Haemost 2021 Sep;19(9):2112-2121. Epub 2021 Jul 27 doi: 10.1111/jth.15444. PMID: 34197690Free PMC Article
Schmidt BM
Best Pract Res Clin Rheumatol 2020 Jun;34(3):101563. Epub 2020 Jul 5 doi: 10.1016/j.berh.2020.101563. PMID: 32641254
Galli M, Scavone G, Vitiello R, Flex A, Caputo S, Pitocco D
Foot (Edinb) 2018 Sep;36:59-66. Epub 2018 Feb 17 doi: 10.1016/j.foot.2018.02.001. PMID: 30368193
Dale TM, Saucedo JM, Rodriguez-Merchan EC
Haemophilia 2018 Jul;24(4):548-556. Epub 2018 Apr 30 doi: 10.1111/hae.13498. PMID: 29707874


Schweitzer M, Rockhill S
Clin Podiatr Med Surg 2022 Oct;39(4):585-594. Epub 2022 Aug 6 doi: 10.1016/j.cpm.2022.05.005. PMID: 36180190
Santiago MB
Lupus 2022 Apr;31(4):398-406. doi: 10.1177/09612033221082908. PMID: 35311417
Diaz-Perez JA, Conway SA, Zuo Y, Nielsen GP, Selig M, Rosenberg AE
Adv Anat Pathol 2021 Nov 1;28(6):415-425. doi: 10.1097/PAP.0000000000000317. PMID: 34516450
Trieb K
Bone Joint J 2016 Sep;98-B(9):1155-9. doi: 10.1302/0301-620X.98B9.37038. PMID: 27587513
Frykberg RG
Clin Podiatr Med Surg 1987 Apr;4(2):351-9. PMID: 2952245


Genel F, Kale M, Pavlovic N, Flood VM, Naylor JM, Adie S
J Nutr Sci 2020;9:e37. Epub 2020 Aug 27 doi: 10.1017/jns.2020.31. PMID: 32983422Free PMC Article
Naunton J, Street G, Littlewood C, Haines T, Malliaras P
Clin Rehabil 2020 Sep;34(9):1198-1216. Epub 2020 Jun 22 doi: 10.1177/0269215520934147. PMID: 32571081
Piga A, Roggero S, Salussolia I, Massano D, Serra M, Longo F
Ann N Y Acad Sci 2010 Aug;1202:75-8. doi: 10.1111/j.1749-6632.2010.05586.x. PMID: 20712776
Cohen SP, Raja SN
Anesthesiology 2007 Mar;106(3):591-614. doi: 10.1097/00000542-200703000-00024. PMID: 17325518
Luck JV Jr, Silva M, Rodriguez-Merchan EC, Ghalambor N, Zahiri CA, Finn RS
J Am Acad Orthop Surg 2004 Jul-Aug;12(4):234-45. doi: 10.5435/00124635-200407000-00004. PMID: 15473675


Ferguson LD, Siebert S, McInnes IB, Sattar N
Nat Rev Rheumatol 2019 Aug;15(8):461-474. Epub 2019 Jul 10 doi: 10.1038/s41584-019-0256-0. PMID: 31292564
Collin P, Thomazeau H, Walch G, Gerber C, Mansat P, Favard L, Colmar M, Kempf JF, Hervé A, Betz M
J Shoulder Elbow Surg 2019 Jan;28(1):196-202. Epub 2018 Oct 12 doi: 10.1016/j.jse.2018.07.023. PMID: 30322753
Frykberg RG, Sage RA, Wukich DK, Pinzur MS, Schuberth JM
Foot Ankle Spec 2012 Aug;5(4):262-71. doi: 10.1177/1938640012451234. PMID: 22843545
Suhrbier A, Jaffar-Bandjee MC, Gasque P
Nat Rev Rheumatol 2012 May 8;8(7):420-9. doi: 10.1038/nrrheum.2012.64. PMID: 22565316
Roddy E, Doherty M
Arthritis Res Ther 2010;12(6):223. Epub 2010 Dec 21 doi: 10.1186/ar3199. PMID: 21205285Free PMC Article

Clinical prediction guides

Daffunchio C, Landro ME, Galatro G, Neme D, Cambiaggi G, Moretti N, Guerrero V, Negrete G, Primiani L, Caviglia H
Haemophilia 2023 Mar;29(2):530-537. Epub 2023 Jan 25 doi: 10.1111/hae.14750. PMID: 36696281
Bardin T, Nguyen QD, Hieu NL, Tran KM, Dalbeth N, Do MD, Ea HK, Richette P, Resche-Rigon M, Bousson V
Semin Arthritis Rheum 2022 Apr;53:151981. Epub 2022 Feb 10 doi: 10.1016/j.semarthrit.2022.151981. PMID: 35183934
Tani C, Carli L, Stagnaro C, Elefante E, Signorini V, Balestri F, Delle Sedie A, Mosca M
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):68-73. Epub 2018 Oct 1 PMID: 30296972
Martinoli C, Della Casa Alberighi O, Di Minno G, Graziano E, Molinari AC, Pasta G, Russo G, Santagostino E, Tagliaferri A, Tagliafico A, Morfini M
Thromb Haemost 2013 Jun;109(6):1170-9. Epub 2013 Apr 4 doi: 10.1160/TH12-11-0874. PMID: 23571706
Sequeira W
Clin Exp Rheumatol 1994 May-Jun;12(3):325-37. PMID: 8070170

Recent systematic reviews

Chin B, Wee I, Syn NL, O'Neill GK, Yap ES, Koh PL
Cochrane Database Syst Rev 2022 Nov 30;11(11):CD013634. doi: 10.1002/14651858.CD013634.pub2. PMID: 36448638Free PMC Article
Burden EG, Batten TJ, Smith CD, Evans JP
Bone Joint J 2021 May;103-B(5):813-821. Epub 2021 Feb 22 doi: 10.1302/0301-620X.103B.BJJ-2020-2101. PMID: 33616421
Genel F, Kale M, Pavlovic N, Flood VM, Naylor JM, Adie S
J Nutr Sci 2020;9:e37. Epub 2020 Aug 27 doi: 10.1017/jns.2020.31. PMID: 32983422Free PMC Article
Naunton J, Street G, Littlewood C, Haines T, Malliaras P
Clin Rehabil 2020 Sep;34(9):1198-1216. Epub 2020 Jun 22 doi: 10.1177/0269215520934147. PMID: 32571081
Alinaghi F, Calov M, Kristensen LE, Gladman DD, Coates LC, Jullien D, Gottlieb AB, Gisondi P, Wu JJ, Thyssen JP, Egeberg A
J Am Acad Dermatol 2019 Jan;80(1):251-265.e19. Epub 2018 Jun 19 doi: 10.1016/j.jaad.2018.06.027. PMID: 29928910

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