MCID: CHN059
MIFTS: 46

Chondrocalcinosis

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrocalcinosis

MalaCards integrated aliases for Chondrocalcinosis:

Name: Chondrocalcinosis 12 76 29 55 6 44 15
Pseudogout 12 76 55 73
Calcium Pyrophosphate Deposition Disease 12 73

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 chondrocalcinosis 2 and gitelman syndrome, and has symptoms including joint stiffness An important gene associated with Chondrocalcinosis is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator), and among its related pathways/superpathways is Endochondral Ossification. The drugs Colchicine and Povidone have been mentioned in the context of this disorder. Affiliated tissues include joint, bone and b cells, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 76 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 57)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 2 34.7 ANKH OTULIN
2 gitelman syndrome 32.2 CASR SLC12A3
3 hypocalciuric hypercalcemia, familial, type i 31.6 AP2S1 CASR GNA11
4 hypocalciuric hypercalcemia, familial, type iii 31.4 AP2S1 CASR GNA11
5 hypocalciuric hypercalcemia, familial, type ii 31.4 AP2S1 CASR GNA11
6 craniometaphyseal dysplasia, autosomal dominant 30.5 ANKH OTULIN
7 hyperostosis 29.9 ANKH TNFRSF11B
8 hypokalemia 29.8 CASR SLC12A3
9 arthropathy 29.7 ANKH HFE TNFRSF11B
10 familial hypocalciuric hypercalcemia 29.7 AP2S1 CASR GNA11
11 hypophosphatasia, adult 29.0 ALPL ENPP1
12 hypophosphatasia 29.0 ALPL ENPP1
13 chondrocalcinosis 1 12.0
14 chondrocalcinosis due to apatite crystal deposition 12.0
15 familial calcium pyrophosphate deposition 11.6
16 hypomagnesemia 2, renal 10.9
17 primary hypomagnesemia 10.9
18 hypocalcemia, autosomal dominant 1 10.5 CASR GNA11
19 bartter disease 10.3 CASR SLC12A3
20 osteoarthritis 10.3
21 mineral metabolism disease 10.3 CASR SLC12A3
22 secondary hyperparathyroidism of renal origin 10.2 CASR TNFRSF11B
23 renal osteodystrophy 10.2 CASR TNFRSF11B
24 ankylosis 10.2 ANKH TNFRSF11B
25 spondyloarthropathy 1 10.2 ANKH TNFRSF11B
26 hemophilic arthropathy 10.1 HFE TNFRSF11B
27 gout 10.1
28 tumoral calcinosis, hyperphosphatemic, familial, 1 10.1
29 dyschromatosis universalis hereditaria 10.1 ENPP1 GNA11
30 arthritis 10.0
31 tumoral calcinosis, normophosphatemic, familial 9.9
32 familial tumoral calcinosis 9.9
33 rheumatoid arthritis 9.9
34 aging 9.9
35 synovitis 9.9
36 diffuse idiopathic skeletal hyperostosis 9.9
37 calcinosis 9.9 ANKH ENPP1
38 osteomalacia 9.8 ALPL CASR
39 hypomagnesemia 3, renal 9.7
40 brachydactyly 9.7
41 short bowel syndrome 9.7
42 osteopoikilosis 9.7
43 nephrocalcinosis 9.7
44 hyperparathyroidism 9.7
45 rheumatic disease 9.7
46 enthesopathy 9.7
47 cervicitis 9.7
48 bursitis 9.7
49 cellulitis 9.7
50 radiculopathy 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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.04 GNA11 ANKH OTULIN ENPP1 ALPL SLC12A3
2 growth/size/body region MP:0005378 10.03 GNA11 ANKH HFE CASR OTULIN ENPP1
3 cellular MP:0005384 10.02 ALPL ANKH HFE CASR ENPP1 TNFRSF11B
4 hematopoietic system MP:0005397 9.91 GNA11 ANKH HFE CASR ALPL TNFRSF11B
5 immune system MP:0005387 9.87 GNA11 ANKH HFE CASR ENPP1 ALPL
6 craniofacial MP:0005382 9.85 GNA11 ANKH OTULIN ALPL TNFRSF11B
7 mortality/aging MP:0010768 9.76 ALPL GNA11 ANKH HFE CASR ENPP1
8 hearing/vestibular/ear MP:0005377 9.71 GNA11 ANKH ENPP1 TNFRSF11B
9 limbs/digits/tail MP:0005371 9.65 GNA11 ANKH HFE ALPL TNFRSF11B
10 muscle MP:0005369 9.35 ALPL GNA11 ANKH CASR ENPP1
11 skeleton MP:0005390 9.17 GNA11 ANKH CASR OTULIN ENPP1 ALPL

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 6167 2833
2
Povidone Approved Phase 3 9003-39-8
3
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
4 Calcium, Dietary Phase 3,Early Phase 1
5 Anti-Inflammatory Agents Phase 3,Not Applicable
6 Antirheumatic Agents Phase 3,Early Phase 1,Not Applicable
7 Antimitotic Agents Phase 3
8 Antineoplastic Agents, Hormonal Phase 3
9 glucocorticoids Phase 3
10 Hormone Antagonists Phase 3
11 Hormones Phase 3
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
13
Acetaminophen Approved Phase 2,Not Applicable 103-90-2 1983
14
Acetylcholine Approved Phase 2 51-84-3 187
15 abobotulinumtoxinA Phase 2
16 Botulinum Toxins Phase 2
17 Botulinum Toxins, Type A Phase 2
18 Cholinergic Agents Phase 2
19 Neuromuscular Agents Phase 2
20 Neurotransmitter Agents Phase 2
21 onabotulinumtoxinA Phase 2
22 Peripheral Nervous System Agents Phase 2,Not Applicable
23
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
24
Sevoflurane Approved, Vet_approved 28523-86-6 5206
25
Probenecid Approved, Investigational Early Phase 1 57-66-9 4911
26
Guaifenesin Approved, Investigational, Vet_approved Not Applicable 93-14-1 3516
27
Hydrocodone Approved, Illicit Not Applicable 125-29-1 5284569
28
Ibuprofen Approved Not Applicable 15687-27-1 3672
29
Oxycodone Approved, Illicit, Investigational Not Applicable 76-42-6 5284603
30
Cimetidine Approved, Investigational 51481-61-9 2756
31
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
32 Bone Density Conservation Agents
33 Anesthetics
34 Anesthetics, General
35 Anesthetics, Inhalation
36 Anesthetics, Intravenous
37 Arginine Vasopressin
38 Central Nervous System Depressants ,Not Applicable
39 Coagulants
40 Hemostatics
41 Hypnotics and Sedatives
42 Natriuretic Agents
43 Platelet Aggregation Inhibitors
44 Vasoconstrictor Agents
45 Vasopressins
46 Renal Agents Early Phase 1
47 Acetaminophen, hydrocodone drug combination Not Applicable
48 Analgesics Not Applicable
49 Analgesics, Non-Narcotic Not Applicable
50 Analgesics, Opioid Not Applicable

Interventional clinical trials:

(show all 26)
# 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 Not Applicable
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 Clinical and Radiological Outcomes of Medacta Shoulder System Recruiting NCT03547947
15 Impact of Humeral Component Version on Outcomes Following RTSA Recruiting NCT03111147 Not Applicable
16 Effect of Ibuprofen on Postoperative Opiate Medication Use and Shoulder Recruiting NCT02588027 Not Applicable Ibuprofen;Placebo
17 SMR Stemless Shoulder Arthroplasty Clinical Study Recruiting NCT02679352 Not Applicable
18 Anatomical Shoulder™ Inverse/Reverse Study Active, not recruiting NCT02466321 Not Applicable
19 Costs and Consequences of Three Common Orthopedic Procedures on the Upper Extremity Active, not recruiting NCT01954433
20 Database Retrieval for the Comprehensive Shoulder Active, not recruiting NCT03409718
21 COMPREHENSIVE® REVERSE SHOULDER Mini BasePlate Active, not recruiting NCT02084693
22 Safety Study of Univers® Revers Shoulder Prosthesis Active, not recruiting NCT01778777 Not Applicable
23 Functional and Radiographic Outcomes After Shoulder Surgery Enrolling by invitation NCT01405781
24 Abduction Brace Versus Antirotation Sling for Immobilization Following Reverse Shoulder Arthroplasty and Rotator Cuff Repair Not yet recruiting NCT03488433 Not Applicable
25 Massive Rotator Cuff Tear Reconstruction Not yet recruiting NCT03425500 Not Applicable
26 Long-term Clinical Effectiveness of the Delta Xtend Reverse Total Shoulder Terminated NCT00737087 Not Applicable

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 29

Anatomical Context for Chondrocalcinosis

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

19
Joint

MalaCards organs/tissues related to Chondrocalcinosis:

41
Bone, B Cells, Lung, Testes

Publications for Chondrocalcinosis

Articles related to Chondrocalcinosis:

(show top 50) (show all 95)
# Title Authors Year
1
Incidence of knee chondrocalcinosis and its risk factors in a community-based cohort. ( 29968327 )
2018
2
Tophaceous Chondrocalcinosis Mimicking Chronic External Otitis. ( 29561381 )
2018
3
Coexisting Gout and Chondrocalcinosis on Hand Radiograph. ( 29717094 )
2018
4
An Unusual Case of Acute Chondrocalcinosis in Wrist Joint Presenting as Cellulitis. ( 29441250 )
2017
5
Lumbar Spine Chondrocalcinosis. ( 28765345 )
2017
6
Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies. ( 29104755 )
2017
7
Association of Chondrocalcinosis in Knee Joints With Pain and Synovitis: Data From the Osteoarthritis Initiative. ( 28129488 )
2017
8
Low prevalence of knee chondrocalcinosis and its catabolic association by use of serum matrix metalloproteinase 3: A rural Japanese population study. ( 28337851 )
2017
9
Dose-response relationship between lower serum magnesium level and higher prevalence of knee chondrocalcinosis. ( 29065924 )
2017
10
Prevalence of Chondrocalcinosis in Patients above 50 Years and the Relationship with Osteoarthritis. ( 28828349 )
2017
11
Chondrocalcinosis and Gitelman syndrome. ( 27026693 )
2016
12
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. ( 27303630 )
2016
13
Rapid Growth of Lung Nodules due to Combined Pulmonary Vasculitis, Silicoanthracosis, and Chondrocalcinosis. ( 27478398 )
2016
14
The prevalence of chondrocalcinosis of the symphysis pubis on CT scan and correlation with calcium pyrophosphate dihydrate crystal deposition disease. ( 26861035 )
2016
15
Evaluation of Chondrocalcinosis and Associated Knee Joint Degeneration Using MR Imaging: Data from the Osteoarthritis Initiative. ( 27704199 )
2016
16
Prevalence of asymptomatic chondrocalcinosis in the pelvis. ( 27037810 )
2016
17
Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study. ( 27339375 )
2016
18
Ultrasonography: A Useful Tool for the Diagnosis of Chondrocalcinosis of the Sternoclavicular Joint. ( 27252495 )
2016
19
Comparison of outcomes after UKA in patients with and without chondrocalcinosis: a matched cohort study. ( 25786825 )
2015
20
Does chondrocalcinosis associate with a distinct radiographic phenotype of osteoarthritis in knees and hips? - a case-control study. ( 26223458 )
2015
21
Rates of meniscal tearing in patients with chondrocalcinosis. ( 25431326 )
2015
22
A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis. ( 24743232 )
2015
23
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 25720051 )
2015
24
Osteoarthritis and scapholunate instability in chondrocalcinosis. ( 25577977 )
2015
25
Association between low cortical bone mineral density, soft-tissue calcification, vascular calcification and chondrocalcinosis: a case-control study. ( 23912799 )
2014
26
Effectiveness and safety of infliximab in two cases of severe chondrocalcinosis: nine years of follow-up. ( 25436167 )
2014
27
Does chondrocalcinosis affect Knee Society scores and range of motion after TKA? ( 24385044 )
2014
28
The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study. ( 24467728 )
2014
29
Evidence of a systemic predisposition to chondrocalcinosis and association between chondrocalcinosis and osteoarthritis at distant joints: a cross-sectional study. ( 23335553 )
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
Ultrasound imaging for the rheumatologist. XLVII. Ultrasound of the shoulder in patients with gout and calcium pyrophosphate deposition disease. ( 24050142 )
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
Gitelman's syndrome associated with chondrocalcinosis: a case report. ( 24021031 )
2013
34
Comparison of three imaging techniques in diagnosis of chondrocalcinosis of the knees in calcium pyrophosphate deposition disease. ( 23382359 )
2013
35
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
36
Chondrocalcinosis is common in the absence of knee involvement. ( 23036436 )
2012
37
Interspinous bursitis and chondrocalcinosis. ( 22840475 )
2012
38
Efficacy of anakinra in articular chondrocalcinosis: report of three cases. ( 22341584 )
2012
39
Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. ( 21811784 )
2012
40
Genetics and mechanisms of crystal deposition in calcium pyrophosphate deposition disease. ( 22198832 )
2012
41
Pathology quiz case 2. Tophaceous pseudogout (calcium pyrophosphate deposition disease [CPDD]) of the TMJ. ( 22986729 )
2012
42
Some historical remarks on microcrystalline arthritis (gout and chondrocalcinosis). ( 22303526 )
2011
43
Epidemiology of gout and chondrocalcinosis. ( 22303527 )
2011
44
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. ( 19449425 )
2009
45
Spondyloarthritis, diffuse idiopathic skeletal hyperostosis (DISH) and chondrocalcinosis. ( 19731619 )
2009
46
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. ( 19467900 )
2009
47
Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. ( 17043047 )
2007
48
The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. ( 17284543 )
2007
49
Ectopic calcification among families in the Azores: clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis. ( 16575860 )
2006
50
Lumbar radiculopathy due to chondrocalcinosis. ( 16717221 )
2006

Variations for Chondrocalcinosis

ClinVar genetic disease variations for Chondrocalcinosis:

6
(show top 50) (show all 294)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKH NM_054027.4(ANKH): c.1237G> A (p.Ala413Thr) single nucleotide variant Likely benign rs112513380 GRCh37 Chromosome 5, 14713681: 14713681
2 ANKH NM_054027.4(ANKH): c.1237G> A (p.Ala413Thr) single nucleotide variant Likely benign rs112513380 GRCh38 Chromosome 5, 14713572: 14713572
3 ANKH NM_054027.4(ANKH): c.102G> A (p.Leu34=) single nucleotide variant Benign/Likely benign rs116591972 GRCh37 Chromosome 5, 14769295: 14769295
4 ANKH NM_054027.4(ANKH): c.102G> A (p.Leu34=) single nucleotide variant Benign/Likely benign rs116591972 GRCh38 Chromosome 5, 14769186: 14769186
5 ANKH NM_054027.4(ANKH): c.*6163A> G single nucleotide variant Likely benign rs182300014 GRCh37 Chromosome 5, 14705143: 14705143
6 ANKH NM_054027.4(ANKH): c.*6163A> G single nucleotide variant Likely benign rs182300014 GRCh38 Chromosome 5, 14705034: 14705034
7 ANKH NM_054027.4(ANKH): c.*6041T> C single nucleotide variant Uncertain significance rs886060066 GRCh37 Chromosome 5, 14705265: 14705265
8 ANKH NM_054027.4(ANKH): c.*6041T> C single nucleotide variant Uncertain significance rs886060066 GRCh38 Chromosome 5, 14705156: 14705156
9 ANKH NM_054027.4(ANKH): c.*6034A> C single nucleotide variant Uncertain significance rs886060067 GRCh37 Chromosome 5, 14705272: 14705272
10 ANKH NM_054027.4(ANKH): c.*6034A> C single nucleotide variant Uncertain significance rs886060067 GRCh38 Chromosome 5, 14705163: 14705163
11 ANKH NM_054027.4(ANKH): c.*5136delA deletion Likely benign rs577325072 GRCh37 Chromosome 5, 14706170: 14706170
12 ANKH NM_054027.4(ANKH): c.*5136delA deletion Likely benign rs577325072 GRCh38 Chromosome 5, 14706061: 14706061
13 ANKH NM_054027.4(ANKH): c.*4704T> G single nucleotide variant Uncertain significance rs886060071 GRCh37 Chromosome 5, 14706602: 14706602
14 ANKH NM_054027.4(ANKH): c.*4704T> G single nucleotide variant Uncertain significance rs886060071 GRCh38 Chromosome 5, 14706493: 14706493
15 ANKH NM_054027.4(ANKH): c.*4672G> A single nucleotide variant Benign rs61502042 GRCh37 Chromosome 5, 14706634: 14706634
16 ANKH NM_054027.4(ANKH): c.*4672G> A single nucleotide variant Benign rs61502042 GRCh38 Chromosome 5, 14706525: 14706525
17 ANKH NM_054027.4(ANKH): c.*4103G> A single nucleotide variant Likely benign rs181397772 GRCh38 Chromosome 5, 14707094: 14707094
18 ANKH NM_054027.4(ANKH): c.*4103G> A single nucleotide variant Likely benign rs181397772 GRCh37 Chromosome 5, 14707203: 14707203
19 ANKH NM_054027.4(ANKH): c.*3928_*3929delCG deletion Benign rs527918862 GRCh37 Chromosome 5, 14707377: 14707378
20 ANKH NM_054027.4(ANKH): c.*3928_*3929delCG deletion Benign rs527918862 GRCh38 Chromosome 5, 14707268: 14707269
21 ANKH NM_054027.4(ANKH): c.*3928C> T single nucleotide variant Benign rs27911 GRCh37 Chromosome 5, 14707378: 14707378
22 ANKH NM_054027.4(ANKH): c.*3928C> T single nucleotide variant Benign rs27911 GRCh38 Chromosome 5, 14707269: 14707269
23 ANKH NM_054027.4(ANKH): c.*3616C> T single nucleotide variant Uncertain significance rs550672520 GRCh37 Chromosome 5, 14707690: 14707690
24 ANKH NM_054027.4(ANKH): c.*3616C> T single nucleotide variant Uncertain significance rs550672520 GRCh38 Chromosome 5, 14707581: 14707581
25 ANKH NM_054027.4(ANKH): c.*3548G> A single nucleotide variant Uncertain significance rs539426552 GRCh38 Chromosome 5, 14707649: 14707649
26 ANKH NM_054027.4(ANKH): c.*3548G> A single nucleotide variant Uncertain significance rs539426552 GRCh37 Chromosome 5, 14707758: 14707758
27 ANKH NM_054027.4(ANKH): c.*3386G> A single nucleotide variant Uncertain significance rs368727070 GRCh37 Chromosome 5, 14707920: 14707920
28 ANKH NM_054027.4(ANKH): c.*3386G> A single nucleotide variant Uncertain significance rs368727070 GRCh38 Chromosome 5, 14707811: 14707811
29 ANKH NM_054027.4(ANKH): c.*2770C> T single nucleotide variant Uncertain significance rs563898623 GRCh37 Chromosome 5, 14708536: 14708536
30 ANKH NM_054027.4(ANKH): c.*2770C> T single nucleotide variant Uncertain significance rs563898623 GRCh38 Chromosome 5, 14708427: 14708427
31 ANKH NM_054027.4(ANKH): c.*2694T> C single nucleotide variant Uncertain significance rs886060075 GRCh37 Chromosome 5, 14708612: 14708612
32 ANKH NM_054027.4(ANKH): c.*2694T> C single nucleotide variant Uncertain significance rs886060075 GRCh38 Chromosome 5, 14708503: 14708503
33 ANKH NM_054027.4(ANKH): c.*2428G> C single nucleotide variant Uncertain significance rs886060077 GRCh37 Chromosome 5, 14708878: 14708878
34 ANKH NM_054027.4(ANKH): c.*2428G> C single nucleotide variant Uncertain significance rs886060077 GRCh38 Chromosome 5, 14708769: 14708769
35 ANKH NM_054027.4(ANKH): c.*2243C> G single nucleotide variant Uncertain significance rs531980160 GRCh37 Chromosome 5, 14709063: 14709063
36 ANKH NM_054027.4(ANKH): c.*2243C> G single nucleotide variant Uncertain significance rs531980160 GRCh38 Chromosome 5, 14708954: 14708954
37 ANKH NM_054027.4(ANKH): c.*2119C> T single nucleotide variant Benign rs150130025 GRCh37 Chromosome 5, 14709187: 14709187
38 ANKH NM_054027.4(ANKH): c.*2119C> T single nucleotide variant Benign rs150130025 GRCh38 Chromosome 5, 14709078: 14709078
39 ANKH NM_054027.4(ANKH): c.*1370C> G single nucleotide variant Uncertain significance rs191464917 GRCh37 Chromosome 5, 14709936: 14709936
40 ANKH NM_054027.4(ANKH): c.*1370C> G single nucleotide variant Uncertain significance rs191464917 GRCh38 Chromosome 5, 14709827: 14709827
41 ANKH NM_054027.4(ANKH): c.*1354A> G single nucleotide variant Uncertain significance rs886060080 GRCh37 Chromosome 5, 14709952: 14709952
42 ANKH NM_054027.4(ANKH): c.*1354A> G single nucleotide variant Uncertain significance rs886060080 GRCh38 Chromosome 5, 14709843: 14709843
43 ANKH NM_054027.4(ANKH): c.*1058C> T single nucleotide variant Uncertain significance rs886060084 GRCh37 Chromosome 5, 14710248: 14710248
44 ANKH NM_054027.4(ANKH): c.*1058C> T single nucleotide variant Uncertain significance rs886060084 GRCh38 Chromosome 5, 14710139: 14710139
45 ANKH NM_054027.4(ANKH): c.*925T> C single nucleotide variant Likely benign rs115929672 GRCh37 Chromosome 5, 14710381: 14710381
46 ANKH NM_054027.4(ANKH): c.*925T> C single nucleotide variant Likely benign rs115929672 GRCh38 Chromosome 5, 14710272: 14710272
47 ANKH NM_054027.4(ANKH): c.*914A> C single nucleotide variant Likely benign rs556791755 GRCh37 Chromosome 5, 14710392: 14710392
48 ANKH NM_054027.4(ANKH): c.*914A> C single nucleotide variant Likely benign rs556791755 GRCh38 Chromosome 5, 14710283: 14710283
49 ANKH NM_054027.4(ANKH): c.*793A> G single nucleotide variant Uncertain significance rs377136068 GRCh38 Chromosome 5, 14710404: 14710404
50 ANKH NM_054027.4(ANKH): c.*793A> G single nucleotide variant Uncertain significance rs377136068 GRCh37 Chromosome 5, 14710513: 14710513

Expression for Chondrocalcinosis

Search GEO for disease gene expression data for Chondrocalcinosis.

Pathways for Chondrocalcinosis

Pathways related to Chondrocalcinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 ALPL ENPP1

GO Terms for Chondrocalcinosis

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.61 ALPL ANKH AP2S1 CASR ENPP1 GNA11
2 integral component of plasma membrane GO:0005887 9.1 ANKH CASR ENPP1 HFE SLC12A3 TNFRSF11B

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

# Name GO ID Score Top Affiliating Genes
1 biomineral tissue development GO:0031214 9.26 ALPL ENPP1
2 regulation of bone mineralization GO:0030500 9.16 ANKH ENPP1
3 inorganic diphosphate transport GO:0030505 8.96 ANKH ENPP1
4 skeletal system development GO:0001501 8.92 ALPL ANKH GNA11 TNFRSF11B

Sources for Chondrocalcinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....