Details of Disease

General Information of Disease (ID: DISVEERK)

• Disease Name: Arthropathy
• Synonyms: joint disease; arthrosis; joint disorder; disorder of joint; ankylosis of ankle and foot joint; Joint ankylosis of the hand; Joint ankylosis of the shoulder region; ankylosis of lower leg joint; Joint ankylosis of the upper arm; infectious arthropathy; Joint ankylosis of the lower leg; ankylosis of joint of shoulder region; ankylosis of joint of pelvic region and thigh; Joint ankylosis of the ankle and foot; ankylosis of hand joint; Joint ankylosis of the pelvic region and thigh; Joint ankylosis of the forearm; ankylosis of multiple joints; ankylosis of upper arm joint; ankylosis of joint of multiple sites; ankylosis of forearm joint; ankylosis of joint of forearm; ankylosis of joint of lower leg; disorder, Joint; disorder of skeletal joint; Joint ankylosis of the ankle and/or foot; ankylosis of joint of upper arm; disease or disorder of skeletal joint; skeletal joint disease or disorder; ankylosis of joint of ankle and/or foot; disease of skeletal joint; Joint disorder; arthropathy; ankylosis of joint of hand; skeletal joint disease
• Disease Class: FA11-FA5Z: Arthropathy
• Definition: Any disorder of the joints.
• Disease Hierarchy:
  DISWD40R: Disease
  DIS5PU87: Skeletal system disorder
  DISVEERK: Arthropathy
• ICD Code:
  ICD-11: ICD-11: FA11-FA38
  ICD-10: ICD-10: M00-M14
• Disease Identifiers:
  MONDO ID: MONDO_0006816
  MESH ID: D007592
  UMLS CUI: C0022408
  MedGen ID: 7190
  HPO ID: HP:0003040
  SNOMED CT ID: 399269003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Iothalamate	DMZV579	Approved	Small molecular drug	[1]

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AS-902330	DMTUMYX	Phase 2	NA	[2]
KI-0503	DMTL2SD	Phase 2	NA	[3]
Allostrome	DMF9090	Phase 1/2	NA	[4]

This Disease is Treated as An Indication in 4 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
166Ho-phytate	DMHDHF0	Investigative	NA	[5]
ART-237	DMJ3HQN	Investigative	NA	[5]
Cartistem-adipo	DMATEUF	Investigative	NA	[5]
GRNCHND-1	DML9WHC	Investigative	NA	[5]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 15 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACVR1	TTJNBQA	Limited	Genetic Variation	[6]
ADAMTS5	TTXSU2Y	Limited	Biomarker	[7]
F8	TT1290U	Limited	Biomarker	[8]
SYVN1	TT8XKYM	Limited	Biomarker	[9]
LTF	TTSZDQU	moderate	Therapeutic	[10]
TNNC1	TT8RDXP	moderate	Biomarker	[11]
TRPV4	TTKP2SU	moderate	Genetic Variation	[12]
ADAMTS4	TTYG6BU	Strong	Biomarker	[7]
IL1R1	TTWOTEA	Strong	Biomarker	[13]
NODAL	TTK2O1Q	Strong	Biomarker	[14]
RXRB	TTKLV96	Strong	Biomarker	[15]
SOST	TTYRO4F	Strong	Altered Expression	[16]
ANK1	TTKFPMH	Definitive	Altered Expression	[17]
CNTN2	TT2Z1WB	Definitive	Biomarker	[18]
F9	TTFEZ5Q	Definitive	Genetic Variation	[19]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A10	DTJYKDQ	Limited	Biomarker	[20]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SAMHD1	OTBCIBC7	Limited	Genetic Variation	[21]
ANKH	OTCN25R5	moderate	Altered Expression	[17]
MFAP4	OT5W64QY	moderate	Biomarker	[22]
CCN6	OTRFHQ2Z	Strong	Genetic Variation	[23]
KIR3DS1	OTJWIO4T	Strong	Biomarker	[24]
OSBPL5	OTI1UJXT	Strong	Biomarker	[15]
PADI2	OTT40K94	Strong	Biomarker	[25]
PCOLCE	OTJXOAN4	Strong	Altered Expression	[15]
SIGLEC14	OT2JGGXD	Strong	Biomarker	[15]
ACKR2	OTWYY14H	Definitive	Altered Expression	[26]
AK3	OTM59ZGG	Definitive	Biomarker	[27]
ASPN	OTYJM80N	Definitive	Biomarker	[28]
CHI3L2	OT26R3HQ	Definitive	Biomarker	[29]
HIRA	OTON40EJ	Definitive	Biomarker	[30]
MATN3	OTH9H74J	Definitive	Biomarker	[31]
MMP19	OTLSTT2B	Definitive	Altered Expression	[32]
NIPAL4	OT43JC9A	Definitive	Genetic Variation	[33]

References

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• [2] ClinicalTrials.gov (NCT01919164) A Study to Investigate the Safety and Effectiveness of Different Doses of Sprifermin (AS902330) in Patients With Osteoarthritis of the Knee. U.S. National Institutes of Health.
• [3] Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800033558)
• [4] Clinical pipeline report, company report or official report of Stematix Inc.
• [5] The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
• [6] Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva.Bone. 2020 Jan;130:115116. doi: 10.1016/j.bone.2019.115116. Epub 2019 Oct 23.
• [7] ADAMTS4 and ADAMTS5 may be considered as new molecular therapeutic targets for cartilage damages with Kashin-Beck Disease.Med Hypotheses. 2020 Feb;135:109440. doi: 10.1016/j.mehy.2019.109440. Epub 2019 Oct 18.
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• [9] Synoviolin/Hrd1, an E3 ubiquitin ligase, as a novel pathogenic factor for arthropathy.Genes Dev. 2003 Oct 1;17(19):2436-49. doi: 10.1101/gad.1096603. Epub 2003 Sep 15.
• [10] Therapeutic potential of iron chelators in diseases associated with iron mismanagement.J Pharm Pharmacol. 2006 May;58(5):575-84. doi: 10.1211/jpp.58.5.0001.
• [11] Role of tenascin-C in articular cartilage.Mod Rheumatol. 2018 Mar;28(2):215-220. doi: 10.1080/14397595.2017.1349560. Epub 2017 Jul 19.
• [12] Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?.Am J Med Genet A. 2011 Nov;155A(11):2860-4. doi: 10.1002/ajmg.a.34268. Epub 2011 Sep 30.
• [13] A short report on the effect of decreased incubation time on the architectural profile of autologous conditioned serum (ACS).Cytokine. 2017 Jun;94:52-54. doi: 10.1016/j.cyto.2017.03.019. Epub 2017 Apr 11.
• [14] Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype.J Clin Rheumatol. 2006 Jun;12(3):109-13. doi: 10.1097/01.rhu.0000221800.77223.d6.
• [15] Epigenome-wide analysis of sperm cells identifies IL22 as a possible germ line risk locus for psoriatic arthritis.PLoS One. 2019 Feb 19;14(2):e0212043. doi: 10.1371/journal.pone.0212043. eCollection 2019.
• [16] Serum Sclerostin Level and Bone Mineral Density in Pediatric Hemophilic Arthropathy.Indian J Pediatr. 2019 Jun;86(6):515-519. doi: 10.1007/s12098-019-02855-1. Epub 2019 Jan 22.
• [17] Upregulated ank expression in osteoarthritis can promote both chondrocyte MMP-13 expression and calcification via chondrocyte extracellular PPi excess.Osteoarthritis Cartilage. 2004 Apr;12(4):321-35. doi: 10.1016/j.joca.2003.12.004.
• [18] Ribozyme-based gene cleavage approach to chronic arthritis associated with human T cell leukemia virus type I: induction of apoptosis in synoviocytes by ablation of HTLV-I tax protein.Arthritis Rheum. 1997 Dec;40(12):2118-27. doi: 10.1002/art.1780401205.
• [19] Inhibitors in haemophilia A and B: Management of bleeds, inhibitor eradication and strategies for difficult-to-treat patients.Eur J Haematol. 2019 Feb;102(2):111-122. doi: 10.1111/ejh.13193. Epub 2018 Dec 6.
• [20] Anti-inflammatory and antioxidant properties of jervine, a sterodial alkaloid from rhizomes of Veratrum album.Phytomedicine. 2019 Mar 1;55:191-199. doi: 10.1016/j.phymed.2018.06.035. Epub 2018 Aug 11.
• [21] Familial Aicardi-Goutires syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.Am J Med Genet A. 2010 Apr;152A(4):938-42. doi: 10.1002/ajmg.a.33359.
• [22] Site-specific absence of microfibrillar-associated protein 4 (MFAP4) from the internal elastic membrane of arterioles in the rheumatoid arthritis synovial membrane: an immunohistochemical study in patients with advanced rheumatoid arthritis versus osteoarthritis.APMIS. 2019 Aug;127(8):588-593. doi: 10.1111/apm.12974.
• [23] A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.J Pediatr Endocrinol Metab. 2011;24(1-2):105-8. doi: 10.1515/jpem.2011.117.
• [24] Polymorphisms of KIRs gene and HLA-C alleles in patients with ankylosing spondylitis: possible association with susceptibility to the disease.J Clin Immunol. 2008 Jul;28(4):343-9. doi: 10.1007/s10875-008-9183-6. Epub 2008 Feb 23.
• [25] Autoantibodies to Peptidylarginine Deiminase 2 Are Associated With Less Severe Disease in Rheumatoid Arthritis.Front Immunol. 2018 Nov 20;9:2696. doi: 10.3389/fimmu.2018.02696. eCollection 2018.
• [26] Elevated ACKR2 expression is a common feature of inflammatory arthropathies.Rheumatology (Oxford). 2017 Sep 1;56(9):1607-1617. doi: 10.1093/rheumatology/kex176.
• [27] New therapies using nonfactor products for patients with hemophilia and inhibitors.Blood. 2019 Jan 31;133(5):399-406. doi: 10.1182/blood-2018-07-820712. Epub 2018 Dec 17.
• [28] Expression, regulation and function of asporin, a susceptibility gene in common bone and joint diseases.Curr Med Chem. 2008;15(7):724-8. doi: 10.2174/092986708783885237.
• [29] YKL-39 (chitinase 3-like protein 2), but not YKL-40 (chitinase 3-like protein 1), is up regulated in osteoarthritic chondrocytes.Ann Rheum Dis. 2003 Oct;62(10):995-8. doi: 10.1136/ard.62.10.995.
• [30] Use of Western Medicine and Traditional Korean Medicine for Joint Disorders: A Retrospective Comparative Analysis Based on Korean Nationwide Insurance Data.Evid Based Complement Alternat Med. 2017;2017:2038095. doi: 10.1155/2017/2038095. Epub 2017 Dec 6.
• [31] Association of Matrilin-3 Gene Polymorphism with Temporomandibular Joint Internal Derangement.Genet Test Mol Biomarkers. 2016 Oct;20(10):563-568. doi: 10.1089/gtmb.2016.0037. Epub 2016 Aug 17.
• [32] The matrix metalloproteinase RASI-1 is expressed in synovial blood vessels of a rheumatoid arthritis patient.Immunol Lett. 1997 Jun 1;57(1-3):83-8. doi: 10.1016/s0165-2478(97)00057-6.
• [33] Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.Pediatr Dermatol. 2019 Nov;36(6):1002-1003. doi: 10.1111/pde.13995. Epub 2019 Sep 18.