MCID: CHN059
MIFTS: 43

Chondrocalcinosis malady

Categories: Genetic diseases, Bone diseases, Rare diseases

Aliases & Classifications for Chondrocalcinosis

About this section

Aliases & Descriptions for Chondrocalcinosis:

Name: Chondrocalcinosis 11 13 25 48 37
Pseudogout 11 48 66
 
Calcium Pyrophosphate Deposition Disease 11 66

Classifications:



External Ids:

Disease Ontology11 DOID:1156
ICD9CM30 712.1
MeSH37 D002805
NCIt43 C34955

Summaries for Chondrocalcinosis

About this section
Wikipedia:69 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

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). Affiliated tissues include joint, bone and b cells, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:11 An arthritis that has material basis in the accumulation of salt crystals located in joint.

Related Diseases for Chondrocalcinosis

About this section

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 62)
idRelated DiseaseScoreTop Affiliating Genes
1chondrocalcinosis 212.3
2chondrocalcinosis with early-onset osteoarthritis12.0
3chondrocalcinosis due to apatite crystal deposition11.9
4familial calcium pyrophosphate deposition11.4
5gitelman syndrome10.7
6familial bilateral striatal necrosis10.5AP2S1, CASR
7pleomorphic adenoma carcinoma10.5ALPL, ANKH
8epilepsy idiopathic generalized 810.5CASR, GNA11
9mild pre-eclampsia10.4AP2S1, CASR
10silver-russell syndrome due to 7p11.2p13 microduplication10.4CASR, REN
11leukodystrophy10.3ALPL, CASR
12t cell deficiency10.3AP2S1, CASR
13osteoarthritis10.2
14extraskeletal chondroma10.2ALPL, ANKH, HFE
15dystonia 2510.1REN, SLC12A3
16broad ligament malignant neoplasm10.1REN, SLC12A3
17hypocalciuric hypercalcemia, type i10.1
18gout10.1
19arthropathy10.1
20ochronosis10.1ALPL, ANKH, ENPP1
21mucinous tubular and spindle renal cell carcinoma10.0REN, SLC12A3
22hemorrhagic shock and encephalopathy syndrome10.0HFE, TNFRSF11B
23arterial calcification, generalized, of infancy, 210.0ALPL, ANKH, ENPP1
24central nervous system angiosarcoma10.0REN, SLC12A3
25acquired hyperkeratosis10.0CASR, TNFRSF11B
26van buchem disease, type 29.9ANKH, TNFRSF11B
27tumoral calcinosis, hyperphosphatemic, familial9.9
28tumoral calcinosis, familial, normophosphatemic9.9
29familial tumoral calcinosis9.9
30vulvovaginitis9.9ANKH, TNFRSF11B
31hypocalciuric hypercalcemia, type ii9.9
32hypocalciuric hypercalcemia, familial, type iii9.9
33hyperostosis9.9
34diffuse idiopathic skeletal hyperostosis9.9
35vulvovaginal candidiasis9.9ALPL, ANKH
36bestrophinopathy9.9CASR, REN, SLC12A3
37astrakhan spotted fever9.8CASR, REN, SLC12A3
38episodic kinesigenic dyskinesia 29.8CASR, REN, SLC12A3
39maxillary sinusitis9.8ANKH, TNFRSF11B
40mononeuritis9.8REN, SLC12A3
41pseudobulbar palsy9.8ALPL, AP2S1, CASR, GNA11
42craniometaphyseal dysplasia9.8
43arthritis9.8
44brachydactyly9.8
45short bowel syndrome9.8
46hypercalcemia9.8
47nephrocalcinosis9.8
48hyperparathyroidism9.8
49hypophosphatasia9.8
50rheumatic disease9.8

Graphical network of the top 20 diseases related to Chondrocalcinosis:



Diseases related to chondrocalcinosis

Symptoms for Chondrocalcinosis

About this section

UMLS symptoms related to Chondrocalcinosis:


joint stiffness, arthralgia, joint swelling

Drugs & Therapeutics for Chondrocalcinosis

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ProbenecidPhase 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 (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

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

About this section

Genetic tests related to Chondrocalcinosis:

id Genetic test Affiliating Genes
1 Chondrocalcinosis25

Anatomical Context for Chondrocalcinosis

About this section

MalaCards organs/tissues related to Chondrocalcinosis:

34
Bone, B cells, Lung, Testes

FMA organs/tissues related to Chondrocalcinosis:

17
Joint

Animal Models for Chondrocalcinosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Chondrocalcinosis:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4ANKH, ENPP1, GNA11, TNFRSF11B
2MP:00053678.5CASR, ENPP1, GNA11, REN, SLC12A3
3MP:00053698.5ALPL, ANKH, CASR, ENPP1, GNA11, REN
4MP:00053977.9ALPL, ANKH, CASR, GNA11, HFE, REN
5MP:00053857.9ALPL, ANKH, ENPP1, GNA11, REN, SLC12A3
6MP:00053877.7ALPL, ANKH, CASR, ENPP1, GNA11, HFE
7MP:00107687.5ALPL, ANKH, CASR, ENPP1, GNA11, HFE
8MP:00053717.4ALPL, ANKH, GNA11, HFE, MYO10, TNFRSF11B
9MP:00053907.4ALPL, ANKH, CASR, ENPP1, GNA11, MYO10
10MP:00053867.0ALPL, ANKH, CASR, ENPP1, GNA11, HFE
11MP:00053766.5ALPL, ANKH, CASR, ENPP1, GNA11, HFE
12MP:00053786.5ALPL, ANKH, CASR, ENPP1, GNA11, HFE

Publications for Chondrocalcinosis

About this section

Articles related to Chondrocalcinosis:

(show top 50)    (show all 76)
idTitleAuthorsYear
1
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. (27303630)
2016
2
Rapid Growth of Lung Nodules due to Combined Pulmonary Vasculitis, Silicoanthracosis, and Chondrocalcinosis. (27478398)
2016
3
Chondrocalcinosis and Gitelman syndrome. (27026693)
2016
4
Ultrasonography: A Useful Tool for the Diagnosis of Chondrocalcinosis of the Sternoclavicular Joint. (27252495)
2016
5
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (25720051)
2015
6
Rates of meniscal tearing in patients with chondrocalcinosis. (25431326)
2015
7
Osteoarthritis and scapholunate instability in chondrocalcinosis. (25577977)
2015
8
Does chondrocalcinosis associate with a distinct radiographic phenotype of osteoarthritis in knees and hips? - a case-control study. (26223458)
2015
9
Comparison of outcomes after UKA in patients with and without chondrocalcinosis: a matched cohort study. (25786825)
2015
10
Evidence of a systemic predisposition to chondrocalcinosis and association between chondrocalcinosis and osteoarthritis at distant joints: a cross-sectional study. (23335553)
2013
11
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
12
Gitelman's syndrome associated with chondrocalcinosis: a case report. (24021031)
2013
13
Efficacy of anakinra in articular chondrocalcinosis: report of three cases. (22341584)
2012
14
Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. (21811784)
2012
15
Chondrocalcinosis is common in the absence of knee involvement. (23036436)
2012
16
Spondyloarthritis, diffuse idiopathic skeletal hyperostosis (DISH) and chondrocalcinosis. (19731619)
2009
17
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. (19449425)
2009
18
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
19
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. (17043047)
2007
20
Lumbar radiculopathy due to chondrocalcinosis. (16717221)
2006
21
Ectopic calcification among families in the Azores: clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis. (16575860)
2006
22
Hypomagnesemia and chondrocalcinosis in short bowel syndrome. (16331778)
2005
23
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
24
Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. (16142886)
2005
25
Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene. (15461680)
2004
26
Genetic testing for haemochromatosis in patients with chondrocalcinosis. (12117686)
2002
27
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. (10492336)
1999
28
Gitelman syndrome and chondrocalcinosis. (10069232)
1999
29
Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. (10610710)
1999
30
Association of Paget's disease of bone with articular chondrocalcinosis and pseudogout. (9712120)
1998
31
Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. (7887424)
1995
32
Familial hypokalemia/hypomagnesemia and chondrocalcinosis. (7983657)
1994
33
Pseudogout, chondrocalcinosis and the early recognition of haemochromatosis. (1621295)
1992
34
Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature. (6644710)
1983
35
Pathogenesis of chondrocalcinosis and pseudogout. Metabolism of inorganic pyrophosphate and production of calcium pyrophosphate dihydrate crystals. (6311118)
1983
36
Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. (7072744)
1982
37
Chondrocalcinosis and pseudogout. (4349286)
1973
38
Chondrocalcinosis articularis (pseudogout syndrome). (4541464)
1973
39
Hemarthrosis in chondrocalcinosis (pseudogout). (5086530)
1972
40
Menisceal tearing in pseudogout (chondrocalcinosis, pyrophosphate arthropathy). (4329320)
1971
41
Calcium pyrophosphate crystal synovitis with articular chondrocalcinosis ("pseudogout" syndrome). (4314982)
1970
42
Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout). (4097282)
1970
43
Familial occurrence of chondrocalcinosis (pseudogout syndrome). (5353447)
1969
44
Chondrocalcinosis and pseudogout. (5364640)
1969
45
Chondrocalcinosis (pseudogout). (5937364)
1966
46
Familial joint chondrocalcinosis (pseudogout syndrome). (5948946)
1966
47
RECENT ADVANCES IN STUDY OF RHEUMATIC DISEASES: PSEUDOGOUT (CHONDROCALCINOSIS ARTICULARIS). (14304901)
1965
48
CRYSTAL DEPOSITION DISEASES: SODIUM URATE (GOUT) AND CALCIUM PYROPHOSPHATE (CHONDROCALCINOSIS, PSEUDOGOUT). (14304355)
1965
49
CHONDROCALCINOSIS (PSEUDOGOUT SYNDROME). A FAMILY STUDY. (14132554)
1964
50
THE ROENTGENOGRAPHIC ASPECTS OF PSEUDOGOUT (ARTICULAR CHONDROCALCINOSIS). AN ANALYSIS OF 20 CASES. (14081431)
1963

Variations for Chondrocalcinosis

About this section

Expression for genes affiliated with Chondrocalcinosis

About this section
Search GEO for disease gene expression data for Chondrocalcinosis.

Pathways for genes affiliated with Chondrocalcinosis

About this section

GO Terms for genes affiliated with Chondrocalcinosis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.7ALPL, ENPP1, HFE, REN, TNFRSF11B
2integral component of plasma membraneGO:00058878.2ANKH, CASR, ENPP1, HFE, SLC12A3, TNFRSF11B
3plasma membraneGO:00058865.2ALPL, ANKH, AP2S1, CASR, ENPP1, GNA11

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

idNameGO IDScoreTop Affiliating Genes
1inorganic diphosphate transportGO:003050510.4ANKH, ENPP1
2regulation of bone mineralizationGO:00305009.9ANKH, ENPP1
3response to lipopolysaccharideGO:00324969.0ALPL, REN, TNFRSF11B
4skeletal system developmentGO:00015018.9ALPL, ANKH, GNA11, TNFRSF11B

Sources for Chondrocalcinosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet