MCID: CHN059
MIFTS: 47

Chondrocalcinosis

Categories: Bone diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Chondrocalcinosis

MalaCards integrated aliases for Chondrocalcinosis:

Name: Chondrocalcinosis 12 72 28 51 41 14
Pseudogout 12 72 51 69
Calcium Pyrophosphate Deposition Disease 12 69

Classifications:



Summaries for Chondrocalcinosis

Disease Ontology : 12 An arthritis that has material basis in the accumulation of salt crystals located in joint.

MalaCards based summary : Chondrocalcinosis, also known as pseudogout, is related to gitelman syndrome and hypocalciuric hypercalcemia, familial, type i, and has symptoms including joint stiffness An important gene associated with Chondrocalcinosis is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). The drugs Colchicine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include joint, bone and b cells, and related phenotypes are growth/size/body region and behavior/neurological

Wikipedia : 72 Chondrocalcinosis is calcification in hyaline and/or fibrocartilage. It can be seen on... more...

Related Diseases for Chondrocalcinosis

Diseases in the Chondrocalcinosis family:

Chondrocalcinosis 2 Chondrocalcinosis Due to Apatite Crystal Deposition
Chondrocalcinosis 1

Diseases related to Chondrocalcinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 gitelman syndrome 31.9 CASR REN SLC12A3
2 hypocalciuric hypercalcemia, familial, type i 31.7 AP2S1 CASR GNA11
3 hypocalciuric hypercalcemia, familial, type iii 31.5 AP2S1 CASR GNA11
4 hypocalciuric hypercalcemia, familial, type ii 31.5 AP2S1 CASR GNA11
5 familial hypocalciuric hypercalcemia 29.7 AP2S1 CASR GNA11
6 arthropathy 29.6 ANKH HFE TNFRSF11B
7 hypophosphatasia, adult 29.5 ALPL ENPP1
8 hypophosphatasia 29.5 ALPL ENPP1
9 hypokalemia 29.5 CASR REN SLC12A3
10 hyperostosis 29.3 ANKH TNFRSF11B
11 chondrocalcinosis 2 12.6
12 chondrocalcinosis 1 12.1
13 chondrocalcinosis due to apatite crystal deposition 12.0
14 familial calcium pyrophosphate deposition 11.6
15 hypomagnesemia 2, renal 10.9
16 primary hypomagnesemia 10.9
17 hypocalcemia, autosomal dominant 1 10.3 CASR GNA11
18 osteoarthritis with mild chondrodysplasia 10.2
19 osteoarthritis 10.2
20 idiopathic hypercalciuria 10.1 CASR REN
21 arthrogryposis, distal, type 3 10.1 REN SLC12A3
22 renal tubular transport disease 10.1 REN SLC12A3
23 renal hypertension 10.1 REN SLC12A3
24 tumoral calcinosis, hyperphosphatemic, familial 10.1
25 bartter syndrome, type 3 10.1 REN SLC12A3
26 dyschromatosis universalis hereditaria 10.1 ENPP1 GNA11
27 gout 10.0
28 osteomalacia 10.0 ALPL CASR
29 tumoral calcinosis, normophosphatemic, familial 9.9
30 familial tumoral calcinosis 9.9
31 bartter disease 9.9 CASR REN SLC12A3
32 secondary hyperparathyroidism of renal origin 9.9 CASR TNFRSF11B
33 mineral metabolism disease 9.9 CASR REN SLC12A3
34 renal osteodystrophy 9.9 CASR TNFRSF11B
35 hemophilic arthropathy 9.9 HFE TNFRSF11B
36 arthritis 9.9
37 synovitis 9.9
38 diffuse idiopathic skeletal hyperostosis 9.9
39 ankylosis 9.9 ANKH TNFRSF11B
40 pseudoxanthoma elasticum 9.8 ALPL ANKH ENPP1
41 spondyloarthropathy 1 9.8 ANKH TNFRSF11B
42 calcinosis 9.8 ANKH ENPP1
43 craniometaphyseal dysplasia, autosomal dominant 9.7
44 hypercalciuria, absorptive, 2 9.7
45 hypercalcemia, infantile, 1 9.7
46 arterial calcification, generalized, of infancy, 1 9.7
47 hypomagnesemia 3, renal 9.7
48 aging 9.7
49 episodic pain syndrome, familial, 1 9.7
50 brachydactyly 9.7

Graphical network of the top 20 diseases related to Chondrocalcinosis:



Diseases related to Chondrocalcinosis

Symptoms & Phenotypes for Chondrocalcinosis

UMLS symptoms related to Chondrocalcinosis:


joint stiffness

MGI Mouse Phenotypes related to Chondrocalcinosis:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.08 REN TNFRSF11B HFE ALPL ENPP1 ANKH
2 behavior/neurological MP:0005386 10.05 REN HFE CASR ALPL ENPP1 ANKH
3 cardiovascular system MP:0005385 10.04 REN SLC12A3 TNFRSF11B ALPL ENPP1 ANKH
4 homeostasis/metabolism MP:0005376 10.01 REN SLC12A3 HFE ALPL ENPP1 ANKH
5 hematopoietic system MP:0005397 9.98 REN TNFRSF11B HFE CASR ALPL ANKH
6 immune system MP:0005387 9.97 REN TNFRSF11B ALPL ENPP1 ANKH GNA11
7 mortality/aging MP:0010768 9.86 REN TNFRSF11B HFE CASR ALPL ENPP1
8 hearing/vestibular/ear MP:0005377 9.76 TNFRSF11B ENPP1 ANKH GNA11
9 limbs/digits/tail MP:0005371 9.72 TNFRSF11B ALPL ANKH GNA11 HFE
10 muscle MP:0005369 9.63 REN ALPL ENPP1 ANKH GNA11 CASR
11 renal/urinary system MP:0005367 9.35 REN SLC12A3 ENPP1 GNA11 CASR
12 skeleton MP:0005390 9.1 TNFRSF11B CASR ALPL ENPP1 ANKH GNA11

Drugs & Therapeutics for Chondrocalcinosis

Drugs for Chondrocalcinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3 64-86-8 2833 6167
2
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
3
Povidone Approved Phase 3 9003-39-8
4 Calcium, Dietary Phase 3,Early Phase 1
5 Anti-Inflammatory Agents Phase 3
6 Antirheumatic Agents Phase 3,Early Phase 1
7 glucocorticoids Phase 3
8 Hormone Antagonists Phase 3
9 Hormones Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Antimitotic Agents Phase 3
12 Antineoplastic Agents, Hormonal Phase 3
13
Acetaminophen Approved Phase 2 103-90-2 1983
14
Acetylcholine Approved Phase 2 51-84-3 187
15 abobotulinumtoxinA Phase 2
16 Cholinergic Agents Phase 2
17 Neuromuscular Agents Phase 2
18 Neurotransmitter Agents Phase 2
19 onabotulinumtoxinA Phase 2
20 Peripheral Nervous System Agents Phase 2
21 Botulinum Toxins Phase 2
22 Botulinum Toxins, Type A Phase 2
23
Sevoflurane Approved, Vet_approved 28523-86-6 5206
24
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
25
Probenecid Approved, Investigational Early Phase 1 57-66-9 4911
26
Ibuprofen Approved 15687-27-1 3672
27
Hydrocodone Approved, Illicit 125-29-1 5284569
28
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
29
Guaifenesin Approved, Investigational, Vet_approved 93-14-1 3516
30
Cimetidine Approved, Investigational 51481-61-9 2756
31
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
32 Central Nervous System Depressants
33 Natriuretic Agents
34 Coagulants
35 Hemostatics
36 Vasoconstrictor Agents
37 Anesthetics
38 Vasopressins
39 Anesthetics, General
40 Anesthetics, Inhalation
41 Anesthetics, Intravenous
42 Hypnotics and Sedatives
43 Platelet Aggregation Inhibitors
44 Arginine Vasopressin
45 Bone Density Conservation Agents
46 Analgesics
47 Renal Agents Early Phase 1
48 Respiratory System Agents
49 Acetaminophen, hydrocodone drug combination
50 Chlorpheniramine, phenylpropanolamine drug combination

Interventional clinical trials:

(show all 24)

# Name Status NCT ID Phase Drugs
1 Postmarketing Study to Determine Performance of the SIGMA HP® PARTIAL KNEE SYSTEM Completed NCT01529099 Phase 4
2 Longterm Outcome of the Delta III Inverse Prosthesis Withdrawn NCT01873651 Phase 4
3 Trial of Colchicine Versus Prednisone for the Treatment of Acute CPPD Arthritis Not yet recruiting NCT03128905 Phase 3 Colchicine opocalcium 1mg;Prednisone : Cortancyl 20mg
4 Does Botulinum A Toxin Help With Pain From Rotator Cuff Arthropathy? Recruiting NCT02512536 Phase 2 Botulinum Toxin Type A
5 Regulatory B Cells in Inflammatory Rheumatisms and Biomarkers of Response to Biologic Treatments Unknown status NCT01642706
6 Diagnostic Rentability of Screening for Associated Conditions in Calcium Pyrophosphate Deposition Disease Patients Completed NCT00453128
7 Ultrasound and X-ray in Detecting Articular Cartilage Calcification Completed NCT00797537
8 A Study to Evaluate BioMarkers in Blood Samples in Subjects With Rheumatoid Arthritis Completed NCT01209585
9 Prediction of Development of Scapular Notching Following Reverse Total Shoulder Arthroplasty Completed NCT02052466
10 Vasopressin to Prevent Hypotension During Beach Chair Surgery Completed NCT01687894 Vasopressins;Placebo;propofol;sevoflurane
11 The Effects of Platelet Rich Plasma on the Integrity of Rotator Cuff Repair Completed NCT01424969
12 Effect of Probenecid on Synovial Fluid ATP Levels in CPPD Recruiting NCT02243631 Early Phase 1 Probenecid
13 Role of ASICs in Human Inflammatory Pain Recruiting NCT01867840
14 Impact of Humeral Component Version on Outcomes Following RTSA Recruiting NCT03111147
15 Effect of Ibuprofen on Postoperative Opiate Medication Use and Shoulder Recruiting NCT02588027 Ibuprofen;Placebo
16 SMR Stemless Shoulder Arthroplasty Clinical Study Recruiting NCT02679352
17 Costs and Consequences of Three Common Orthopedic Procedures on the Upper Extremity Recruiting NCT01954433
18 Anatomical Shoulder™ Inverse/Reverse Study Active, not recruiting NCT02466321
19 COMPREHENSIVE® REVERSE SHOULDER Mini BasePlate Active, not recruiting NCT02084693
20 Safety Study of Univers® Revers Shoulder Prosthesis Active, not recruiting NCT01778777
21 Database Retrieval for the Comprehensive Shoulder Enrolling by invitation NCT03409718
22 Functional and Radiographic Outcomes After Shoulder Surgery Enrolling by invitation NCT01405781
23 Massive Rotator Cuff Tear Reconstruction Not yet recruiting NCT03425500
24 Long-term Clinical Effectiveness of the Delta Xtend Reverse Total Shoulder Terminated NCT00737087

Search NIH Clinical Center for Chondrocalcinosis

Cochrane evidence based reviews: chondrocalcinosis

Genetic Tests for Chondrocalcinosis

Genetic tests related to Chondrocalcinosis:

# Genetic test Affiliating Genes
1 Chondrocalcinosis 28

Anatomical Context for Chondrocalcinosis

The Foundational Model of Anatomy Ontology organs/tissues related to Chondrocalcinosis:

18
Joint

MalaCards organs/tissues related to Chondrocalcinosis:

38
Bone, B Cells, Lung, Testes

Publications for Chondrocalcinosis

Articles related to Chondrocalcinosis:

(show top 50) (show all 89)
# Title Authors Year
1
Low prevalence of knee chondrocalcinosis and its catabolic association by use of serum matrix metalloproteinase 3: A rural Japanese population study. ( 28337851 )
2017
2
Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies. ( 29104755 )
2017
3
Prevalence of Chondrocalcinosis in Patients above 50 Years and the Relationship with Osteoarthritis. ( 28828349 )
2017
4
An Unusual Case of Acute Chondrocalcinosis in Wrist Joint Presenting as Cellulitis. ( 29441250 )
2017
5
Dose-response relationship between lower serum magnesium level and higher prevalence of knee chondrocalcinosis. ( 29065924 )
2017
6
Association of Chondrocalcinosis in Knee Joints With Pain and Synovitis: Data From the Osteoarthritis Initiative. ( 28129488 )
2017
7
Lumbar Spine Chondrocalcinosis. ( 28765345 )
2017
8
Chondrocalcinosis and Gitelman syndrome. ( 27026693 )
2016
9
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. ( 27303630 )
2016
10
The prevalence of chondrocalcinosis of the symphysis pubis on CT scan and correlation with calcium pyrophosphate dihydrate crystal deposition disease. ( 26861035 )
2016
11
Ultrasonography: A Useful Tool for the Diagnosis of Chondrocalcinosis of the Sternoclavicular Joint. ( 27252495 )
2016
12
Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study. ( 27339375 )
2016
13
Rapid Growth of Lung Nodules due to Combined Pulmonary Vasculitis, Silicoanthracosis, and Chondrocalcinosis. ( 27478398 )
2016
14
Prevalence of asymptomatic chondrocalcinosis in the pelvis. ( 27037810 )
2016
15
Evaluation of Chondrocalcinosis and Associated Knee Joint Degeneration Using MR Imaging: Data from the Osteoarthritis Initiative. ( 27704199 )
2016
16
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 25720051 )
2015
17
Does chondrocalcinosis associate with a distinct radiographic phenotype of osteoarthritis in knees and hips? - a case-control study. ( 26223458 )
2015
18
Osteoarthritis and scapholunate instability in chondrocalcinosis. ( 25577977 )
2015
19
Rates of meniscal tearing in patients with chondrocalcinosis. ( 25431326 )
2015
20
A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis. ( 24743232 )
2015
21
Comparison of outcomes after UKA in patients with and without chondrocalcinosis: a matched cohort study. ( 25786825 )
2015
22
Does chondrocalcinosis affect Knee Society scores and range of motion after TKA? ( 24385044 )
2014
23
Association between low cortical bone mineral density, soft-tissue calcification, vascular calcification and chondrocalcinosis: a case-control study. ( 23912799 )
2014
24
The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study. ( 24467728 )
2014
25
Effectiveness and safety of infliximab in two cases of severe chondrocalcinosis: nine years of follow-up. ( 25436167 )
2014
26
Ultrasound imaging for the rheumatologist. XLVII. Ultrasound of the shoulder in patients with gout and calcium pyrophosphate deposition disease. ( 24050142 )
2013
27
Evidence of a systemic predisposition to chondrocalcinosis and association between chondrocalcinosis and osteoarthritis at distant joints: a cross-sectional study. ( 23335553 )
2013
28
Comparison of three imaging techniques in diagnosis of chondrocalcinosis of the knees in calcium pyrophosphate deposition disease. ( 23382359 )
2013
29
Gitelman's syndrome associated with chondrocalcinosis: a case report. ( 24021031 )
2013
30
Chondrocalcinosis of femoro-tibial and proximal tibio-fibular joints in cadaveric specimens: a high-resolution CT imaging study of the calcification distribution. ( 23372802 )
2013
31
Reply to the comment by Verhoeven et al. about the article "Efficacy of anakinra in articular chondrocalcinosis--report of three cases" Joint Bone Spine 2012;79:330-1. ( 23165180 )
2013
32
The prevalence of chondrocalcinosis (CC) of the acromioclavicular (AC) joint on chest radiographs and correlation with calcium pyrophosphate dihydrate (CPPD) crystal deposition disease. ( 23609408 )
2013
33
Chondrocalcinosis is common in the absence of knee involvement. ( 23036436 )
2012
34
Interspinous bursitis and chondrocalcinosis. ( 22840475 )
2012
35
Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. ( 21811784 )
2012
36
Pathology quiz case 2. Tophaceous pseudogout (calcium pyrophosphate deposition disease [CPDD]) of the TMJ. ( 22986729 )
2012
37
Efficacy of anakinra in articular chondrocalcinosis: report of three cases. ( 22341584 )
2012
38
Some historical remarks on microcrystalline arthritis (gout and chondrocalcinosis). ( 22303526 )
2011
39
Epidemiology of gout and chondrocalcinosis. ( 22303527 )
2011
40
Spondyloarthritis, diffuse idiopathic skeletal hyperostosis (DISH) and chondrocalcinosis. ( 19731619 )
2009
41
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. ( 19467900 )
2009
42
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. ( 19449425 )
2009
43
The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. ( 17284543 )
2007
44
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. ( 17043047 )
2007
45
Lumbar radiculopathy due to chondrocalcinosis. ( 16717221 )
2006
46
Ectopic calcification among families in the Azores: clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis. ( 16575860 )
2006
47
Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate. ( 15818664 )
2005
48
Genetics of chondrocalcinosis. ( 15951203 )
2005
49
Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. ( 16142886 )
2005
50
Calcium pyrophosphate deposition disease mimicking polymyalgia rheumatica: a prospective followup study of predictive factors for this condition in patients presenting with polymyalgia symptoms. ( 16342107 )
2005

Variations for Chondrocalcinosis

Expression for Chondrocalcinosis

Search GEO for disease gene expression data for Chondrocalcinosis.

Pathways for Chondrocalcinosis

GO Terms for Chondrocalcinosis

Cellular components related to Chondrocalcinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.43 ANKH CASR ENPP1 HFE SLC12A3 TNFRSF11B
2 plasma membrane GO:0005886 9.32 ALPL ANKH AP2S1 CASR ENPP1 GNA11

Biological processes related to Chondrocalcinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.43 ALPL REN TNFRSF11B
2 biomineral tissue development GO:0031214 9.32 ALPL ENPP1
3 regulation of bone mineralization GO:0030500 9.16 ANKH ENPP1
4 inorganic diphosphate transport GO:0030505 8.96 ANKH ENPP1
5 skeletal system development GO:0001501 8.92 ALPL ANKH GNA11 TNFRSF11B

Sources for Chondrocalcinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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