MCID: CHN059
MIFTS: 41

Chondrocalcinosis malady

Genetic diseases, Bone diseases, Rare diseases categories

Aliases & Classifications for Chondrocalcinosis

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt
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Chondrocalcinosis, Aliases & Descriptions:

Name: Chondrocalcinosis 9 43
Pseudogout 9 11 43 60
 
Calcium Pyrophosphate Deposition Disease 9 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

Disease Ontology9 DOID:1156
MeSH33 D002805
NCIt38 C34955

Summaries for Chondrocalcinosis

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Wikipedia:63 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as chondrocalcinosis,... more...

MalaCards based summary: Chondrocalcinosis, also known as pseudogout, is related to gitelman syndrome and arthropathy. An important gene associated with Chondrocalcinosis is ANKH (ANKH inorganic pyrophosphate transport regulator), and among its related pathways are Endochondral Ossification and Nicotinate and nicotinamide metabolism. The compounds bendroflumethiazide and amifostine have been mentioned in the context of this disorder. Affiliated tissues include joint, bone and testes, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

Disease Ontology:9 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 105)
idRelated DiseaseScoreTop Affiliating Genes
1gitelman syndrome30.5REN, SLC12A3
2arthropathy30.3ALPL, ANKH, HFE
3osteoarthritis30.1HFE, ANKH, ENPP1
4calcinosis30.1ENPP1, ANKH, ALPL
5hypophosphatasia30.1ALPL, ENPP1
6hypokalemia30.0SLC12A3, REN
7osteoporosis29.9SLC12A3, ALPL
8arthritis29.8HFE, ALPL, ANKH
9chondrocalcinosis 210.6
10septic arthritis10.4
11chondrocalcinosis with early-onset osteoarthritis10.4
12cervicitis10.4
13ankylosis10.4ENPP1
14polymyalgia rheumatica10.3
15rickets10.3ALPL
16gout10.2
17chondrocalcinosis due to apatite crystal deposition10.2
18rheumatoid arthritis10.2
19spinal stenosis10.2
20primary hyperparathyroidism10.2
21familial tumoral calcinosis10.2
22acromegaly10.1
23tuberculosis10.1
24synovial chondromatosis10.1
25diffuse idiopathic skeletal hyperostosis10.1
26hyperostosis10.1
27pseudohypoaldosteronism, type iie10.1REN, SLC12A3
28bartter syndrome, type 310.1SLC12A3, REN
29bartter disease10.1SLC12A3, REN
30liver disease10.1ALPL, HFE
31hyperaldosteronism10.1SLC12A3, REN
32pseudohypoaldosteronism10.1SLC12A3, REN
33thrombocytopenia10.0HFE, ALPL
34stroke, ischemic10.0SLC12A3, REN
35kidney disease10.0REN, SLC12A3
36polycystic kidney disease, autosomal dominant10.0ENPP1, REN
37craniosynostosis10.0ENPP1, ALPL, ANKH
38systemic lupus erythematosus10.0
39chondrosarcoma10.0
40psoriatic arthritis10.0
41multiple myeloma10.0
42end stage renal failure10.0
43neutropenia10.0
44primary biliary cirrhosis10.0
45giant cell reparative granuloma10.0
46discitis10.0
47cauda equina syndrome10.0
48ochronosis10.0
49lupus erythematosus10.0
50meningitis10.0

Graphical network of the top 20 diseases related to Chondrocalcinosis:



Diseases related to chondrocalcinosis

Symptoms for Chondrocalcinosis

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Drugs & Therapeutics for Chondrocalcinosis

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Drug clinical trials:

Search ClinicalTrials for Chondrocalcinosis

Search NIH Clinical Center for Chondrocalcinosis

Genetic Tests for Chondrocalcinosis

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Anatomical Context for Chondrocalcinosis

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MalaCards organs/tissues related to Chondrocalcinosis:

31
Bone, Testes

FMA organs/tissues related to Chondrocalcinosis:

14
Joint

Animal Models for Chondrocalcinosis or affiliated genes

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MGI Mouse Phenotypes related to Chondrocalcinosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9ALPL, ANKH, HFE
2MP:00053678.8SLC12A3, REN, ENPP1, ANKH
3MP:00053698.6ANKH, REN, ENPP1, ALPL
4MP:00053858.3REN, ANKH, ALPL, ENPP1, SLC12A3
5MP:00053868.2ANKH, ENPP1, REN, ALPL, HFE
6MP:00053878.1ALPL, HFE, ENPP1, REN, ANKH
7MP:00107688.1REN, ANKH, ALPL, HFE, ENPP1
8MP:00053788.0REN, ENPP1, ANKH, ALPL, HFE
9MP:00053767.9ENPP1, SLC12A3, HFE, ALPL, ANKH, REN

Publications for Chondrocalcinosis

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Articles related to Chondrocalcinosis:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. (25720051)
2015
2
Interspinous bursitis and chondrocalcinosis. (22840475)
2012
3
Some historical remarks on microcrystalline arthritis (gout and chondrocalcinosis). (22303526)
2011
4
Epidemiology of gout and chondrocalcinosis. (22303527)
2011
5
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
6
Spondyloarthritis, diffuse idiopathic skeletal hyperostosis (DISH) and chondrocalcinosis. (19731619)
2009
7
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. (19449425)
2009
8
The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. (17284543)
2007
9
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. (17043047)
2007
10
Lumbar radiculopathy due to chondrocalcinosis. (16717221)
2006
11
Ectopic calcification among families in the Azores: clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis. (16575860)
2006
12
Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. (16142886)
2005
13
Hypomagnesemia and chondrocalcinosis in short bowel syndrome. (16331778)
2005
14
Genetics of chondrocalcinosis. (15951203)
2005
15
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
16
Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene. (15461680)
2004
17
Chondrocalcinosis and hypomagnesaemia in a patient with a new mutation in the gene of the thiazide-sensitive Na-Cl cotransporter]. (15002785)
2003
18
Mutations in ANKH cause chondrocalcinosis. (12297987)
2002
19
Genetic testing for haemochromatosis in patients with chondrocalcinosis. (12117686)
2002
20
Hypomagnesemia and chondrocalcinosis in Gitelman syndrome. (10492336)
1999
21
Gitelman syndrome and chondrocalcinosis. (10069232)
1999
22
Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. (10610710)
1999
23
Association of Paget's disease of bone with articular chondrocalcinosis and pseudogout. (9712120)
1998
24
Osteopoikilosis and chondrocalcinosis. (19078135)
1997
25
Localisation of a gene for chondrocalcinosis to chromosome 5p. (8528213)
1995
26
Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. (7887424)
1995
27
Familial hypokalemia/hypomagnesemia and chondrocalcinosis. (7983657)
1994
28
Pseudogout, chondrocalcinosis and the early recognition of haemochromatosis. (1621295)
1992
29
Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature. (6644710)
1983
30
Pathogenesis of chondrocalcinosis and pseudogout. Metabolism of inorganic pyrophosphate and production of calcium pyrophosphate dihydrate crystals. (6311118)
1983
31
Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. (7072744)
1982
32
Chondrocalcinosis and tophaceous erosions: gout or pseudogout? (7161306)
1982
33
Current concepts with respect to chondrocalcinosis and the pseudogout syndrome. (1092192)
1975
34
The wrist arthropathy of "pseudogout" occurring with and without chondrocalcinosis. (4428052)
1974
35
Chondrocalcinosis articularis (pseudogout syndrome). (4541464)
1973
36
Chondrocalcinosis and pseudogout. (4349286)
1973
37
Hemarthrosis in chondrocalcinosis (pseudogout). (5086530)
1972
38
Menisceal tearing in pseudogout (chondrocalcinosis, pyrophosphate arthropathy). (4329320)
1971
39
Calcium pyrophosphate crystal synovitis with articular chondrocalcinosis ("pseudogout" syndrome). (4314982)
1970
40
Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout). (4097282)
1970
41
Familial occurrence of chondrocalcinosis (pseudogout syndrome). (5353447)
1969
42
Chondrocalcinosis and pseudogout. (5364640)
1969
43
Chondrocalcinosis and chondrocalsynovitis. (pseudogout syndrome). Analysis of twenty-four cases. (6038722)
1967
44
Chondrocalcinosis (pseudogout). (5937364)
1966
45
Articular chondrocalcinosis, hyperparathyroidism and pseudogout: hypomagnesaemic crisis. (5939496)
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

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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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Pathways related to Chondrocalcinosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ENPP1, ALPL
2
Show member pathways
NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde36
NAD salvage36
NAD metabolism58
9.5ENPP1, ALPL

Compounds for genes affiliated with Chondrocalcinosis

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Compounds related to Chondrocalcinosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1bendroflumethiazide43 1210.6REN, SLC12A3
2amifostine43 1210.6ENPP1, ALPL
3thiazide439.5SLC12A3, REN
4hydrochlorothiazide43 28 49 24 1213.5REN, SLC12A3
5furosemide43 59 28 49 24 1214.5REN, SLC12A3
6hydroxyapatite439.3ENPP1, ANKH, ALPL
7pyrophosphate43 2410.1ENPP1, ANKH, ALPL
8calcium43 49 24 1210.9ENPP1, REN, ALPL, ANKH, SLC12A3

GO Terms for genes affiliated with Chondrocalcinosis

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

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:00058878.9SLC12A3, ENPP1, HFE, ANKH
2plasma membraneGO:00058866.9SLC12A3, MYO10, REN, ANKH, ALPL, HFE

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

idNameGO IDScoreTop Affiliating Genes
1inorganic diphosphate transportGO:00305059.7ENPP1, ANKH
2regulation of bone mineralizationGO:00305009.7ENPP1, ANKH
3ATP catabolic processGO:00062009.5ENPP1, MYO10
4skeletal system developmentGO:00015019.3ALPL, ANKH
5response to lipopolysaccharideGO:00324969.2REN, ALPL

Products for genes affiliated with Chondrocalcinosis

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Sources for Chondrocalcinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet