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Arthropathy

MedGen UID:
7190
Concept ID:
C0022408
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

Definition

Any disorder of the joints. [from NCI]

Term Hierarchy

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

Conditions with this feature

Alkaptonuria
MedGen UID:
1413
Concept ID:
C0002066
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:
6916
Concept ID:
C0020075
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:
120636
Concept ID:
C0268413
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:
96581
Concept ID:
C0432215
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:
98152
Concept ID:
C0432289
Disease or Syndrome
Winchester syndrome (WNCHRS) 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). Reviews Winter (1989) provided a review of Winchester syndrome. De Vos et al. (2019) reviewed Winchester syndrome, Frank-Ter Haar syndrome (249420), and MONA, tabulating the clinical features of 63 reported patients and noting significant overlap, including craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. Because the protein products of all 3 causative genes (MMP14; SH3PXD2B, 613293; MMP2, 120360) are involved in collagen remodeling, the authors suggested grouping them together in a revised nosologic classification, designated 'defective collagen-remodeling spectrum (DECORS).'
Chondrocalcinosis 2
MedGen UID:
163633
Concept ID:
C0856830
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
MedGen UID:
373381
Concept ID:
C1837657
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:
335678
Concept ID:
C1847406
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
MedGen UID:
347615
Concept ID:
C1858084
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:
349226
Concept ID:
C1859690
Disease or Syndrome
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) 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:
810955
Concept ID:
C2020284
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:
413116
Concept ID:
C2749659
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:
854011
Concept ID:
C3469186
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:
1641972
Concept ID:
C4551679
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 Autosomal recessive primary hypertrophic osteoarthropathy-2-enteropathy syndrome (PHOAR2E; 614441) is caused by mutation in the SLCO2A1 gene (601460) on chromosome 3q22. Families with an autosomal dominant form of primary hypertrophic osteoarthropathy, in which patients may also experience gastrointestinal symptoms, have been reported (PHOAD; 167100).
Hyper-IgE recurrent infection syndrome 4, autosomal recessive
MedGen UID:
1673363
Concept ID:
C5193141
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:
1803642
Concept ID:
C5676977
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

PubMed

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

Etiology

Hester T, Kavarthapu V
Foot Ankle Clin 2022 Sep;27(3):583-594. Epub 2022 Aug 10 doi: 10.1016/j.fcl.2022.03.002. PMID: 36096553
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
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
Petrova NL, Edmonds ME
Diabetes Metab Res Rev 2016 Jan;32 Suppl 1:281-6. doi: 10.1002/dmrr.2734. PMID: 26451965
Rogers LC, Frykberg RG
Med Clin North Am 2013 Sep;97(5):847-56. Epub 2013 May 16 doi: 10.1016/j.mcna.2013.04.003. PMID: 23992896

Diagnosis

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
Sethi PK, Sethi NK
Ann Neurol 2022 Mar;91(3):436-437. Epub 2022 Feb 10 doi: 10.1002/ana.26310. PMID: 35084055
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

Therapy

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
Moreno MM, Cuesta-Barriuso R
Blood Coagul Fibrinolysis 2019 Mar;30(2):55-57. doi: 10.1097/MBC.0000000000000783. PMID: 30507712
Petrova NL, Edmonds ME
Diabetes Metab Res Rev 2016 Jan;32 Suppl 1:281-6. doi: 10.1002/dmrr.2734. PMID: 26451965
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

Prognosis

Ferguson LD, Molenberghs G, Verbeke G, Rahimi K, Rao S, McInnes IB, McMurray JJV, Sattar N, Conrad N
Lancet Rheumatol 2024 Mar;6(3):e156-e167. doi: 10.1016/S2665-9913(23)00338-7. PMID: 38383089
Lübbeke A, Rees JL, Barea C, Combescure C, Carr AJ, Silman AJ
Acta Orthop 2017 Dec;88(6):592-599. Epub 2017 Sep 7 doi: 10.1080/17453674.2017.1368884. PMID: 28880117Free PMC Article
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
Roddy E, Doherty M
Arthritis Res Ther 2010;12(6):223. Epub 2010 Dec 21 doi: 10.1186/ar3199. PMID: 21205285Free PMC Article
De Leonardis F, Govoni M, Colina M, Bruschi M, Trotta F
Rheumatol Int 2007 Nov;28(1):1-6. Epub 2007 Jul 26 doi: 10.1007/s00296-007-0421-7. PMID: 17653719

Clinical prediction guides

Bakeer N, Saied W, Gavrilovski A, Bailey C
Haemophilia 2024 Apr;30 Suppl 3:120-127. Epub 2024 Apr 5 doi: 10.1111/hae.15004. PMID: 38578694
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
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
Ribbans WJ, Phillips AM
Clin Orthop Relat Res 1996 Jul;(328):39-45. doi: 10.1097/00003086-199607000-00009. PMID: 8653975
Sequeira W
Clin Exp Rheumatol 1994 May-Jun;12(3):325-37. PMID: 8070170

Recent systematic reviews

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
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
Strike K, Mulder K, Michael R
Cochrane Database Syst Rev 2016 Dec 19;12(12):CD011180. doi: 10.1002/14651858.CD011180.pub2. PMID: 27992070Free PMC Article
Gamradt SC, Wang JC
Spine J 2005 Jan-Feb;5(1):95-103. doi: 10.1016/j.spinee.2004.09.006. PMID: 15653090

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