MCID: CHN059
MIFTS: 43

Chondrocalcinosis malady

Categories: Genetic diseases, Bone diseases, Rare diseases

Aliases & Classifications for Chondrocalcinosis

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Aliases & Descriptions for Chondrocalcinosis:

Name: Chondrocalcinosis 10 47 12 36
Pseudogout 10 47 65
 
Calcium Pyrophosphate Deposition Disease 10 65

Classifications:



External Ids:

Disease Ontology10 DOID:1156
ICD9CM29 712.1
MeSH36 D002805
NCIt42 C34955
UMLS65 C0033802, C0157852, C0553730

Summaries for Chondrocalcinosis

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Wikipedia:68 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

MalaCards based summary: Chondrocalcinosis, also known as pseudogout, is related to nephrocalcinosis and chondrocalcinosis 2, and has symptoms including joint swelling, arthralgia and joint stiffness. An important gene associated with Chondrocalcinosis is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). Affiliated tissues include joint, bone and b cells, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Disease Ontology:10 An arthritis that has material basis in the accumulation of salt crystals located in joint.

Related Diseases for Chondrocalcinosis

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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 66)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis29.1ALPL, AP2S1, CASR, GNA11
2chondrocalcinosis 212.3
3chondrocalcinosis with early-onset osteoarthritis12.0
4chondrocalcinosis due to apatite crystal deposition11.9
5familial calcium pyrophosphate deposition11.4
6gitelman syndrome10.6
7familial hypopituitarism10.6AP2S1, CASR
8epilepsy idiopathic generalized 810.5CASR, GNA11
9congenital nervous system abnormality10.2ALPL, CASR
10marden-walker syndrome10.2REN, SLC12A3
11osteoarthritis10.2
12bartter syndrome, type 310.2REN, SLC12A3
13primary hyperparathyroidism10.2ALPL, CASR
14hypoinsulinemic hypoglycemia with hemihypertrophy10.2ALPL, ANKH
15leukodystrophy10.2ALPL, CASR
16chromophobe adenocarcinoma10.2REN, SLC12A3
17secondary lacrimal atrophy10.2ANKH, ENPP1
18cerebral lipidosis10.1REN, SLC12A3
19gout10.1
20arthropathy10.1
21hypocalciuric hypercalcemia, type i10.1
22blood coagulation disease10.0CASR, TNFRSF11B
23ankylosis10.0ALPL, ANKH
24acrodermatitis10.0ALPL, REN
25multilocular clear cell renal cell carcinoma10.0REN, SLC12A3
26vulvovaginal candidiasis10.0ANKH, TNFRSF11B
27b-cell lymphomas10.0CASR, REN, SLC12A3
28anisomastia10.0CASR, REN, SLC12A3
29metabolic syndrome x9.9ALPL, ANKH, ENPP1
30dementia9.9CASR, TNFRSF11B
31tumoral calcinosis, familial, normophosphatemic9.9
32familial tumoral calcinosis9.9
33familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome9.9
34orofaciodigital syndrome9.9CASR, REN, SLC12A3
35hyperostosis9.9
36diffuse idiopathic skeletal hyperostosis9.9
37pseudoxanthoma elasticum, forme fruste9.9ALPL, ANKH, ENPP1
38hypocalciuric hypercalcemia, type ii9.9
39hypocalciuric hypercalcemia, familial, type iii9.9
40hemorrhagic fever9.9HFE, TNFRSF11B
41craniometaphyseal dysplasia9.8
42arthritis9.8
43brachydactyly9.8
44short bowel syndrome9.8
45hypercalcemia9.8
46hyperparathyroidism9.8
47hypophosphatasia9.8
48rheumatic disease9.8
49synovitis9.8
50bursitis9.8

Graphical network of the top 20 diseases related to Chondrocalcinosis:



Diseases related to chondrocalcinosis

Symptoms for Chondrocalcinosis

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UMLS symptoms related to Chondrocalcinosis:


joint swelling, arthralgia, joint stiffness

Drugs & Therapeutics for Chondrocalcinosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ProbenecidapprovedPhase 02757-66-94911
Synonyms:
4-((Dipropylamino)sulfonyl)benzoic acid
4-(Di-N-propylsulfamoyl)benzoesaeure
4-(Di-n-propylsulfamoyl)benzoesaeure
4-(Dipropylsulfamoyl)benzoic acid
4-(N,N-Dipropylsulfamoyl)benzoesaeure
4-[(dipropylamino)sulfonyl]benzoic acid
57-66-9
AB00052080
AC-2023
AC1L1J86
AC1Q2XQM
AC1Q2XQN
AI3-50078
AKOS000165123
Apurina
BIDD:GT0626
BIDD:PXR0092
BPBio1_000643
BRD-K95237249-001-05-9
BRN 2815775
BSPBio_000583
BSPBio_002227
Bencid
Benecid
Benemid
Benemid (TN)
Benemide
Benuryl
Biokanol Brand of Probenecid
C07372
C13H19NO4S
CAS-57-66-9
CCRIS 3643
CHEBI:177474
CHEMBL897
CID4911
CPD000058280
Col-BENEMID
Col-Probenecid
ColBenemid (co mponent of)
ColBenemid (component of)
Colbenemid
D00475
D011339
DB01032
DivK1c_000056
EINECS 200-344-3
HMS1569N05
HMS1920J22
HMS2092C03
HMS500C18
HSDB 3387
I01-1905
ICN Brand of Probenecid
IDI1_000056
IDIS Brand of Probenecid
KBio1_000056
KBio2_001314
KBio2_003882
KBio2_006450
KBio3_001727
KBioGR_000971
KBioSS_001314
LS-33
MLS000028496
MLS001076472
Major Brand of Probenecid
Martec Brand of Probenecid
Merck Brand of Probenecid
MolPort-000-145-935
NCGC00016251-01
NCGC00016251-02
NCGC00023829-03
 
NCGC00023829-04
NCGC00023829-05
NCGC00023829-06
NCI-C56097
NINDS_000056
NSC 18786
NSC18786
Ophthalmic Brand of Probenecid
Oprea1_416955
P-(Dipropylsulfamoyl)benzoic acid
P8761_SIGMA
Panuric
Parabenem
Parmed Brand of Probenecid
Polycillin-BRB
Polycillin-PRB
Polycillin-PRB (component of)
Prestwick0_000542
Prestwick1_000542
Prestwick2_000542
Prestwick3_000542
Prestwick_809
Pro-Cid
Probalan
Probampacin
Probecid
Proben
Proben-C
Probenecid
Probenecid (JP15/USP/INN)
Probenecid Acid
Probenecid Major Brand
Probenecid Martec Brand
Probenecid Parmed Brand
Probenecid Weimer
Probenecid Zenith Brand
Probenecid [INN:BAN:JAN]
Probenecid acid
Probenecida
Probenecida [INN-Spanish]
Probenecide
Probenecide [INN-French]
Probenecidum
Probenecidum [INN-Latin]
Probenemid
Probenicid
Probenid
Probexin
Prolongine
Robenecid
SAM002554923
SBB028597
SMR000058280
SPBio_001327
SPBio_002504
SPECTRUM1500502
Spectrum2_001294
Spectrum3_000554
Spectrum4_000486
Spectrum5_001419
Spectrum_000834
Sulprin
Synergid R
Tubophan
UNII-PO572Z7917
Uricosid
Urocid
Valdecasas Brand of Probenecid
WLN: QVR DSWN3&3
Zenith Brand of Probenecid
p-(Dipropylsulfamoyl)benzoic acid
p-(Dipropylsulfamyl)benzoic acid
p-[Dipropylsulfamoyl]benzoic acid
probenecid
probenicid
2Calcium, DietaryPhase 04678
3Antirheumatic AgentsPhase 08496

Interventional clinical trials:

idNameStatusNCT IDPhase
1Postmarketing Study to Determine Performance of the SIGMA HP® PARTIAL KNEE SYSTEMCompletedNCT01529099Phase 4
2Diagnostic Rentability of Screening for Associated Conditions in Calcium Pyrophosphate Deposition Disease PatientsCompletedNCT00453128
3Ultrasound and X-ray in Detecting Articular Cartilage CalcificationCompletedNCT00797537
4A Study to Evaluate BioMarkers in Blood Samples in Subjects With Rheumatoid ArthritisCompletedNCT01209585
5Effect of Probenecid on Synovial Fluid ATP Levels in CPPDRecruitingNCT02243631Phase 0
6Role of ASICs in Human Inflammatory PainRecruitingNCT01867840
7Regulatory B Cells in Inflammatory Rheumatisms and Biomarkers of Response to Biologic TreatmentsRecruitingNCT01642706

Search NIH Clinical Center for Chondrocalcinosis


Cochrane evidence based reviews: chondrocalcinosis

Genetic Tests for Chondrocalcinosis

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Anatomical Context for Chondrocalcinosis

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MalaCards organs/tissues related to Chondrocalcinosis:

33
Bone, B cells, Kidney, Brain, Thyroid, Breast, Testes

FMA organs/tissues related to Chondrocalcinosis:

16
Joint

Animal Models for Chondrocalcinosis or affiliated genes

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MGI Mouse Phenotypes related to Chondrocalcinosis:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7CASR, ENPP1, GNA11, REN, SLC12A3
2MP:00053778.6ANKH, ENPP1, GNA11, TNFRSF11B
3MP:00053718.5ALPL, ANKH, GNA11, HFE, TNFRSF11B
4MP:00053698.3ALPL, ANKH, CASR, ENPP1, GNA11, REN
5MP:00053868.1ALPL, ANKH, CASR, ENPP1, GNA11, HFE
6MP:00053907.8ALPL, ANKH, CASR, ENPP1, GNA11, TNFRSF11B
7MP:00053767.7ALPL, ANKH, CASR, ENPP1, GNA11, HFE
8MP:00053857.4ALPL, ANKH, ENPP1, GNA11, REN, SLC12A3
9MP:00107687.1ALPL, ANKH, CASR, ENPP1, GNA11, HFE
10MP:00053787.0ALPL, ANKH, CASR, ENPP1, GNA11, HFE
11MP:00053976.9ALPL, ANKH, CASR, GNA11, HFE, REN
12MP:00053876.8ALPL, ANKH, CASR, ENPP1, GNA11, HFE

Publications for Chondrocalcinosis

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Articles related to Chondrocalcinosis:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Chondrocalcinosis and Gitelman syndrome. (27026693)
2016
2
Osteoarthritis and scapholunate instability in chondrocalcinosis. (25577977)
2015
3
Does chondrocalcinosis associate with a distinct radiographic phenotype of osteoarthritis in knees and hips? - a case-control study. (26223458)
2015
4
Comparison of outcomes after UKA in patients with and without chondrocalcinosis: a matched cohort study. (25786825)
2015
5
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (25720051)
2015
6
A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis. (24743232)
2015
7
Does chondrocalcinosis affect Knee Society scores and range of motion after TKA? (24385044)
2014
8
Effectiveness and safety of infliximab in two cases of severe chondrocalcinosis: nine years of follow-up. (25436167)
2014
9
Association between low cortical bone mineral density, soft-tissue calcification, vascular calcification and chondrocalcinosis: a case-control study. (23912799)
2014
10
The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study. (24467728)
2014
11
Evidence of a systemic predisposition to chondrocalcinosis and association between chondrocalcinosis and osteoarthritis at distant joints: a cross-sectional study. (23335553)
2013
12
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
13
Comparison of three imaging techniques in diagnosis of chondrocalcinosis of the knees in calcium pyrophosphate deposition disease. (23382359)
2013
14
Gitelman's syndrome associated with chondrocalcinosis: a case report. (24021031)
2013
15
Chondrocalcinosis is common in the absence of knee involvement. (23036436)
2012
16
Efficacy of anakinra in articular chondrocalcinosis: report of three cases. (22341584)
2012
17
Interspinous bursitis and chondrocalcinosis. (22840475)
2012
18
Some historical remarks on microcrystalline arthritis (gout and chondrocalcinosis). (22303526)
2011
19
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
20
Spondyloarthritis, diffuse idiopathic skeletal hyperostosis (DISH) and chondrocalcinosis. (19731619)
2009
21
The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. (17284543)
2007
22
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. (17043047)
2007
23
Lumbar radiculopathy due to chondrocalcinosis. (16717221)
2006
24
Ectopic calcification among families in the Azores: clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis. (16575860)
2006
25
Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. (16142886)
2005
26
Hypomagnesemia and chondrocalcinosis in short bowel syndrome. (16331778)
2005
27
Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene. (15461680)
2004
28
Mutations in ANKH cause chondrocalcinosis. (12297987)
2002
29
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. (10492336)
1999
30
Gitelman syndrome and chondrocalcinosis. (10069232)
1999
31
Association of Paget's disease of bone with articular chondrocalcinosis and pseudogout. (9712120)
1998
32
Osteopoikilosis and chondrocalcinosis. (19078135)
1997
33
Localisation of a gene for chondrocalcinosis to chromosome 5p. (8528213)
1995
34
Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. (7887424)
1995
35
Pseudogout, chondrocalcinosis and the early recognition of haemochromatosis. (1621295)
1992
36
Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature. (6644710)
1983
37
Pathogenesis of chondrocalcinosis and pseudogout. Metabolism of inorganic pyrophosphate and production of calcium pyrophosphate dihydrate crystals. (6311118)
1983
38
Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. (7072744)
1982
39
Current concepts with respect to chondrocalcinosis and the pseudogout syndrome. (1092192)
1975
40
The wrist arthropathy of "pseudogout" occurring with and without chondrocalcinosis. (4428052)
1974
41
Chondrocalcinosis articularis (pseudogout syndrome). (4541464)
1973
42
Chondrocalcinosis and pseudogout. (4349286)
1973
43
Menisceal tearing in pseudogout (chondrocalcinosis, pyrophosphate arthropathy). (4329320)
1971
44
Calcium pyrophosphate crystal synovitis with articular chondrocalcinosis ("pseudogout" syndrome). (4314982)
1970
45
Familial occurrence of chondrocalcinosis (pseudogout syndrome). (5353447)
1969
46
Chondrocalcinosis and pseudogout. (5364640)
1969
47
Chondrocalcinosis (pseudogout). (5937364)
1966
48
Articular chondrocalcinosis, hyperparathyroidism and pseudogout: hypomagnesaemic crisis. (5939496)
1966
49
Familial joint chondrocalcinosis (pseudogout syndrome). (5948946)
1966
50
RECENT ADVANCES IN STUDY OF RHEUMATIC DISEASES: PSEUDOGOUT (CHONDROCALCINOSIS ARTICULARIS). (14304901)
1965

Variations for Chondrocalcinosis

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Expression for genes affiliated with Chondrocalcinosis

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Search GEO for disease gene expression data for Chondrocalcinosis.

Pathways for genes affiliated with Chondrocalcinosis

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GO Terms for genes affiliated with Chondrocalcinosis

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

idNameGO IDScoreTop Affiliating Genes
1inorganic diphosphate transportGO:003050510.4ANKH, ENPP1
2response to lipopolysaccharideGO:00324968.8ALPL, REN, TNFRSF11B

Sources for Chondrocalcinosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet