MCID: CHN059
MIFTS: 41

Chondrocalcinosis malady

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrocalcinosis

Aliases & Descriptions for Chondrocalcinosis:

Name: Chondrocalcinosis 42 14
Pseudogout 12 52 69
Calcium Pyrophosphate Deposition Disease 12 69

Classifications:



External Ids:

Disease Ontology 12 DOID:1156
ICD9CM 35 712.1
MeSH 42 D002805
NCIt 47 C34955

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 chondrocalcinosis 2 and chondrocalcinosis with early-onset osteoarthritis, and has symptoms including joint stiffness, arthralgia and joint swelling. 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 bone, lung and testes, and related phenotypes are growth/size/body region and behavior/neurological

Related Diseases for Chondrocalcinosis

Diseases in the Chondrocalcinosis family:

Chondrocalcinosis 2 Chondrocalcinosis Due to Apatite Crystal Deposition

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

(show top 50) (show all 61)
id Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 2 12.3
2 chondrocalcinosis with early-onset osteoarthritis 11.9
3 chondrocalcinosis due to apatite crystal deposition 11.8
4 gitelman syndrome 11.3
5 familial calcium pyrophosphate deposition 11.3
6 hypocalciuric hypercalcemia, type i 10.9
7 hypocalciuric hypercalcemia, type ii 10.8
8 hypocalciuric hypercalcemia, familial, type iii 10.8
9 kidney cortex necrosis 10.2 ALPL ANKH
10 hepatic fibrosis renal cysts mental retardation 10.2 HFE TNFRSF11B
11 hypophosphatasia, adult 10.2 ALPL ENPP1
12 dystonia 25 10.1 REN SLC12A3
13 osteoarthritis 10.1
14 maroteaux stanescu cousin syndrome 10.1 ALPL TNFRSF11B
15 bartter syndrome, type 3 10.1 REN SLC12A3
16 hypophosphatasia, childhood 10.1 ALPL ANKH ENPP1
17 petrositis 10.1 REN SLC12A3
18 acute frontal sinusitis 10.1 ALPL ANKH ENPP1
19 arterial calcification, generalized, of infancy, 2 10.1 ALPL ANKH ENPP1
20 malignant biphasic mesothelioma 10.1 REN SLC12A3
21 cranial nerve palsy 10.1 ANKH HFE TNFRSF11B
22 pharyngitis 10.0 ANKH TNFRSF11B
23 hypocalcemia, autosomal dominant 10.0 CASR GNA11
24 cerebrooculofacioskeletal syndrome 4 10.0 CASR GNA11
25 tumoral calcinosis, hyperphosphatemic, familial 10.0
26 inflammatory bowel disease 6 10.0 CASR GNA11
27 hyperaldosteronism, familial, type iii 9.9 CASR REN
28 gout 9.9
29 arthropathy 9.9
30 familial chronic myelocytic leukemia-like syndrome 9.9 CASR GNA11
31 pes anserinus tendinitis or bursitis 9.9 CASR TNFRSF11B
32 deafness, autosomal recessive 42 9.9 CASR GNA11
33 clear cell adenocarcinoma 9.9 REN SLC12A3
34 tinea unguium 9.9 CASR TNFRSF11B
35 bipolar disorder 9.9 CASR REN SLC12A3
36 episodic kinesigenic dyskinesia 2 9.9 CASR REN SLC12A3
37 indian tick typhus 9.9 CASR REN SLC12A3
38 high-grade dysplasia in patients with barrett esophagus 9.8 CASR REN
39 familial tumoral calcinosis 9.8
40 tumoral calcinosis, familial, normophosphatemic 9.8
41 hyperostosis 9.8
42 arthritis 9.8
43 diffuse idiopathic skeletal hyperostosis 9.8
44 lung giant cell carcinoma 9.7 CASR ENPP1 REN
45 hyperparathyroidism 9.6
46 hypophosphatasia 9.6
47 craniometaphyseal dysplasia 9.6
48 rheumatic disease 9.6
49 cervicitis 9.6
50 synovitis 9.6

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, arthralgia, joint swelling

MGI Mouse Phenotypes related to Chondrocalcinosis:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 CASR ENPP1 GNA11 HFE MYO10 REN
2 behavior/neurological MP:0005386 10.11 ALPL ANKH CASR ENPP1 GNA11 HFE
3 homeostasis/metabolism MP:0005376 10.06 ALPL ANKH CASR ENPP1 GNA11 HFE
4 cardiovascular system MP:0005385 10.04 ALPL ANKH ENPP1 GNA11 REN SLC12A3
5 hematopoietic system MP:0005397 9.98 ALPL ANKH CASR GNA11 HFE REN
6 immune system MP:0005387 9.97 REN TNFRSF11B ALPL ANKH CASR ENPP1
7 mortality/aging MP:0010768 9.86 ALPL ANKH CASR ENPP1 GNA11 HFE
8 limbs/digits/tail MP:0005371 9.8 ALPL ANKH GNA11 HFE MYO10 TNFRSF11B
9 hearing/vestibular/ear MP:0005377 9.76 ANKH ENPP1 GNA11 TNFRSF11B
10 muscle MP:0005369 9.63 ALPL ANKH CASR ENPP1 GNA11 REN
11 renal/urinary system MP:0005367 9.35 SLC12A3 CASR ENPP1 GNA11 REN
12 skeleton MP:0005390 9.17 ALPL ANKH CASR ENPP1 GNA11 MYO10

Drugs & Therapeutics for Chondrocalcinosis

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 4 64-86-8 6167 2833
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3 Calcium, Dietary Phase 4,Early Phase 1
4 Antirheumatic Agents Phase 4,Early Phase 1
5 glucocorticoids Phase 4
6 Hormone Antagonists Phase 4
7 Hormones Phase 4
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
9 Povidone Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Antimitotic Agents Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13
Probenecid Approved Early Phase 1 57-66-9 4911
14 Bone Density Conservation Agents
15 Renal Agents Early Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Postmarketing Study to Determine Performance of the SIGMA HP® PARTIAL KNEE SYSTEM Completed NCT01529099 Phase 4
2 Trial of Colchicine Versus Prednisone for the Treatment of Acute CPPD Arthritis Not yet recruiting NCT03128905 Phase 4
3 Diagnostic Rentability of Screening for Associated Conditions in Calcium Pyrophosphate Deposition Disease Patients Completed NCT00453128
4 Ultrasound and X-ray in Detecting Articular Cartilage Calcification Completed NCT00797537
5 A Study to Evaluate BioMarkers in Blood Samples in Subjects With Rheumatoid Arthritis Completed NCT01209585
6 Effect of Probenecid on Synovial Fluid ATP Levels in CPPD Recruiting NCT02243631 Early Phase 1
7 Role of ASICs in Human Inflammatory Pain Recruiting NCT01867840
8 Regulatory B Cells in Inflammatory Rheumatisms and Biomarkers of Response to Biologic Treatments Recruiting NCT01642706

Search NIH Clinical Center for Chondrocalcinosis

Cochrane evidence based reviews: chondrocalcinosis

Genetic Tests for Chondrocalcinosis

Anatomical Context for Chondrocalcinosis

MalaCards organs/tissues related to Chondrocalcinosis:

39
Bone, Lung, Testes

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

18
Joint

Publications for Chondrocalcinosis

Articles related to Chondrocalcinosis:

(show top 50) (show all 77)
id Title Authors Year
1
Evaluation of Chondrocalcinosis and Associated Knee Joint Degeneration Using MR Imaging: Data from the Osteoarthritis Initiative. ( 27704199 )
2016
2
Prevalence of asymptomatic chondrocalcinosis in the pelvis. ( 27037810 )
2016
3
Ultrasonography: A Useful Tool for the Diagnosis of Chondrocalcinosis of the Sternoclavicular Joint. ( 27252495 )
2016
4
The prevalence of chondrocalcinosis of the symphysis pubis on CT scan and correlation with calcium pyrophosphate dihydrate crystal deposition disease. ( 26861035 )
2016
5
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. ( 27303630 )
2016
6
Rapid Growth of Lung Nodules due to Combined Pulmonary Vasculitis, Silicoanthracosis, and Chondrocalcinosis. ( 27478398 )
2016
7
Chondrocalcinosis and Gitelman syndrome. ( 27026693 )
2016
8
Comparison of outcomes after UKA in patients with and without chondrocalcinosis: a matched cohort study. ( 25786825 )
2015
9
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 25720051 )
2015
10
A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis. ( 24743232 )
2015
11
Rates of meniscal tearing in patients with chondrocalcinosis. ( 25431326 )
2015
12
Osteoarthritis and scapholunate instability in chondrocalcinosis. ( 25577977 )
2015
13
Does chondrocalcinosis associate with a distinct radiographic phenotype of osteoarthritis in knees and hips? - a case-control study. ( 26223458 )
2015
14
Association between low cortical bone mineral density, soft-tissue calcification, vascular calcification and chondrocalcinosis: a case-control study. ( 23912799 )
2014
15
Does chondrocalcinosis affect Knee Society scores and range of motion after TKA? ( 24385044 )
2014
16
The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study. ( 24467728 )
2014
17
Effectiveness and safety of infliximab in two cases of severe chondrocalcinosis: nine years of follow-up. ( 25436167 )
2014
18
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
19
Comparison of three imaging techniques in diagnosis of chondrocalcinosis of the knees in calcium pyrophosphate deposition disease. ( 23382359 )
2013
20
Evidence of a systemic predisposition to chondrocalcinosis and association between chondrocalcinosis and osteoarthritis at distant joints: a cross-sectional study. ( 23335553 )
2013
21
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
22
Gitelman's syndrome associated with chondrocalcinosis: a case report. ( 24021031 )
2013
23
Chondrocalcinosis of femoro-tibial and proximal tibio-fibular joints in cadaveric specimens: a high-resolution CT imaging study of the calcification distribution. ( 23372802 )
2013
24
Efficacy of anakinra in articular chondrocalcinosis: report of three cases. ( 22341584 )
2012
25
Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. ( 21811784 )
2012
26
Chondrocalcinosis is common in the absence of knee involvement. ( 23036436 )
2012
27
Interspinous bursitis and chondrocalcinosis. ( 22840475 )
2012
28
Some historical remarks on microcrystalline arthritis (gout and chondrocalcinosis). ( 22303526 )
2011
29
Epidemiology of gout and chondrocalcinosis. ( 22303527 )
2011
30
Spondyloarthritis, diffuse idiopathic skeletal hyperostosis (DISH) and chondrocalcinosis. ( 19731619 )
2009
31
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. ( 19467900 )
2009
32
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. ( 19449425 )
2009
33
The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. ( 17284543 )
2007
34
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. ( 17043047 )
2007
35
Lumbar radiculopathy due to chondrocalcinosis. ( 16717221 )
2006
36
Ectopic calcification among families in the Azores: clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis. ( 16575860 )
2006
37
Genetics of chondrocalcinosis. ( 15951203 )
2005
38
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
39
Hypomagnesemia and chondrocalcinosis in short bowel syndrome. ( 16331778 )
2005
40
Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. ( 16142886 )
2005
41
Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene. ( 15461680 )
2004
42
[Chondrocalcinosis and hypomagnesaemia in a patient with a new mutation in the gene of the thiazide-sensitive Na-Cl cotransporter]. ( 15002785 )
2003
43
Mutations in ANKH cause chondrocalcinosis. ( 12297987 )
2002
44
Genetic testing for haemochromatosis in patients with chondrocalcinosis. ( 12117686 )
2002
45
Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. ( 10610710 )
1999
46
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. ( 10492336 )
1999
47
Gitelman syndrome and chondrocalcinosis. ( 10069232 )
1999
48
Association of Paget's disease of bone with articular chondrocalcinosis and pseudogout. ( 9712120 )
1998
49
Osteopoikilosis and chondrocalcinosis. ( 19078135 )
1997
50
Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. ( 7887424 )
1995

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.55 ALPL ENPP1 HFE REN TNFRSF11B
2 integral component of plasma membrane GO:0005887 9.43 ANKH CASR ENPP1 HFE SLC12A3 TNFRSF11B
3 plasma membrane GO:0005886 9.32 ALPL ANKH CASR ENPP1 GNA11 HFE

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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