MCID: CHN059
MIFTS: 47

Chondrocalcinosis

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrocalcinosis

MalaCards integrated aliases for Chondrocalcinosis:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:1156
ICD9CM 35 712.1
NCIt 50 C34955
SNOMED-CT 68 60782007

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 Prednisone and Povidone have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and lung, 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 111)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 2 34.2 ANKH OTULIN
2 gitelman syndrome 32.2 CASR SLC12A3
3 familial hypocalciuric hypercalcemia 32.0 AP2S1 CASR GNA11
4 hypocalciuric hypercalcemia, familial, type i 31.8 AP2S1 CASR GNA11
5 hypocalciuric hypercalcemia, familial, type ii 31.5 AP2S1 CASR GNA11
6 hypocalciuric hypercalcemia, familial, type iii 31.5 AP2S1 CASR GNA11
7 arthropathy 30.6 ANKH HFE TNFRSF11B
8 spondyloarthropathy 1 30.1 ANKH TNFRSF11B
9 calcinosis 30.1 ANKH ENPP1
10 hyperostosis 30.0 ANKH TNFRSF11B
11 craniometaphyseal dysplasia, autosomal dominant 30.0 ANKH OTULIN
12 ankylosis 29.8 ANKH TNFRSF11B
13 hypophosphatasia, adult 29.5 ALPL ENPP1
14 hypophosphatasia 29.5 ALPL ENPP1
15 bone disease 29.4 ALPL CASR TNFRSF11B
16 chondrocalcinosis due to apatite crystal deposition 12.3
17 chondrocalcinosis 1 12.2
18 familial calcium pyrophosphate deposition 11.8
19 hypomagnesemia 2, renal 11.0
20 primary hypomagnesemia 11.0
21 osteoarthritis 10.5
22 arthritis 10.4
23 gout 10.4
24 hypothyroidism 10.2
25 tumoral calcinosis, hyperphosphatemic, familial, 1 10.2
26 rheumatoid arthritis 10.2
27 hyperparathyroidism 10.2
28 primary hyperparathyroidism 10.1
29 spondylitis 10.1
30 bartter disease 10.1 CASR SLC12A3
31 tumoral calcinosis, normophosphatemic, familial 10.1
32 familial tumoral calcinosis 10.1
33 mineral metabolism disease 10.1 CASR SLC12A3
34 iron overload in africa 10.1 CASR HFE
35 secondary hyperparathyroidism of renal origin 10.1 CASR TNFRSF11B
36 metal metabolism disorder 10.1 CASR HFE
37 renal osteodystrophy 10.1 CASR TNFRSF11B
38 carpal tunnel syndrome 10.1
39 mononeuropathy of the median nerve, mild 10.1
40 paget's disease of bone 10.1
41 polymyositis 10.1
42 endosteal hyperostosis, autosomal dominant 10.1 ANKH TNFRSF11B
43 hypocalcemia, autosomal dominant 1 10.1 CASR GNA11
44 spinal stenosis 10.0
45 synovial chondromatosis 10.0
46 hemophilic arthropathy 10.0 HFE TNFRSF11B
47 osteomyelitis 10.0
48 bruxism 10.0
49 dyschromatosis universalis hereditaria 10.0 ENPP1 GNA11
50 osteochondritis dissecans 10.0

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 ALPL ANKH ENPP1 GNA11 OTULIN SLC12A3
2 growth/size/body region MP:0005378 10.03 ALPL ANKH CASR ENPP1 GNA11 HFE
3 cellular MP:0005384 10.02 ALPL ANKH CASR ENPP1 HFE OTULIN
4 hematopoietic system MP:0005397 9.91 ALPL ANKH CASR GNA11 HFE OTULIN
5 immune system MP:0005387 9.87 ALPL ANKH CASR ENPP1 GNA11 HFE
6 craniofacial MP:0005382 9.85 ALPL ANKH GNA11 OTULIN TNFRSF11B
7 mortality/aging MP:0010768 9.76 ALPL ANKH CASR ENPP1 GNA11 HFE
8 limbs/digits/tail MP:0005371 9.73 ALPL ANKH ENPP1 GNA11 HFE TNFRSF11B
9 hearing/vestibular/ear MP:0005377 9.71 ANKH ENPP1 GNA11 TNFRSF11B
10 muscle MP:0005369 9.35 ALPL ANKH CASR ENPP1 GNA11
11 skeleton MP:0005390 9.23 ALPL ANKH CASR ENPP1 GNA11 HFE

Drugs & Therapeutics for Chondrocalcinosis

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

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
2
Povidone Approved Phase 3 9003-39-8
3
Colchicine Approved Phase 3 64-86-8 6167 2833
4
Ketorolac Approved Phase 3 66635-83-4, 74103-06-3 3826
5
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
6 Calcium, Dietary Phase 3,Early Phase 1
7 Antineoplastic Agents, Hormonal Phase 3
8 Hormone Antagonists Phase 3
9 Antirheumatic Agents Phase 3,Early Phase 1,Not Applicable
10 Antimitotic Agents Phase 3
11 Anti-Inflammatory Agents Phase 3,Not Applicable
12 Hormones Phase 3
13 glucocorticoids Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
15 triamcinolone acetonide Phase 3
16 Triamcinolone diacetate Phase 3
17 Triamcinolone hexacetonide Phase 3
18
Acetylcholine Approved Phase 2 51-84-3 187
19
Acetaminophen Approved Phase 2,Not Applicable 103-90-2 1983
20 Botulinum Toxins Phase 2
21 Peripheral Nervous System Agents Phase 2,Not Applicable
22 Acetylcholine Release Inhibitors Phase 2
23 onabotulinumtoxinA Phase 2
24 Neurotransmitter Agents Phase 2
25 Cholinergic Agents Phase 2
26 abobotulinumtoxinA Phase 2
27 Neuromuscular Agents Phase 2
28 Botulinum Toxins, Type A Phase 2
29
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
30
Sevoflurane Approved, Vet_approved 28523-86-6 5206
31
Probenecid Approved, Investigational Early Phase 1 57-66-9 4911
32
Oxycodone Approved, Illicit, Investigational Not Applicable 76-42-6 5284603
33
Ibuprofen Approved Not Applicable 15687-27-1 3672
34
Hydrocodone Approved, Illicit, Investigational Not Applicable 125-29-1 5284569
35
Guaifenesin Approved, Investigational, Vet_approved Not Applicable 93-14-1 3516
36
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
37
Cimetidine Approved, Investigational 51481-61-9 2756
38 Bone Density Conservation Agents
39 Vasoconstrictor Agents
40 Anesthetics, Intravenous
41 Hypnotics and Sedatives
42 arginine
43 Arginine Vasopressin
44 Anesthetics
45 Coagulants
46 Platelet Aggregation Inhibitors
47 Natriuretic Agents
48 Central Nervous System Depressants ,Not Applicable
49 Hemostatics
50 Anesthetics, General

Interventional clinical trials:

(show all 29)
# 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 Recruiting NCT03128905 Phase 3 Colchicine opocalcium 1mg;Prednisone : Cortancyl 20mg
4 Efficacy of Intra-articular NSAID Versus Corticosteroid in the Treatment of Shoulder and Knee Conditions: A Randomized, Double-Blind, Prospective Study Not yet recruiting NCT03616340 Phase 3 Shoulder injection;knee injection
5 Does Botulinum A Toxin Help With Pain From Rotator Cuff Arthropathy? Recruiting NCT02512536 Phase 2 Botulinum Toxin Type A
6 Role of ASICs in Human Inflammatory Pain Unknown status NCT01867840
7 Regulatory B Cells in Inflammatory Rheumatisms and Biomarkers of Response to Biologic Treatments Unknown status NCT01642706
8 Diagnostic Rentability of Screening for Associated Conditions in Calcium Pyrophosphate Deposition Disease Patients Completed NCT00453128
9 Ultrasound and X-ray in Detecting Articular Cartilage Calcification Completed NCT00797537 Not Applicable
10 A Study to Evaluate BioMarkers in Blood Samples in Subjects With Rheumatoid Arthritis Completed NCT01209585
11 Prediction of Development of Scapular Notching Following Reverse Total Shoulder Arthroplasty Completed NCT02052466
12 Vasopressin to Prevent Hypotension During Beach Chair Surgery Completed NCT01687894 Vasopressins;Placebo;propofol;sevoflurane
13 The Effects of Platelet Rich Plasma on the Integrity of Rotator Cuff Repair Completed NCT01424969
14 Effect of Probenecid on Synovial Fluid ATP Levels in CPPD Recruiting NCT02243631 Early Phase 1 Probenecid
15 Home Exercise vs PT for Reverse Total Shoulder Arthroplasty Recruiting NCT03719859 Not Applicable
16 Clinical and Radiological Outcomes of Medacta Shoulder System Recruiting NCT03547947
17 Impact of Humeral Component Version on Outcomes Following RTSA Recruiting NCT03111147 Not Applicable
18 Effect of Ibuprofen on Postoperative Opiate Medication Use and Shoulder Recruiting NCT02588027 Not Applicable Ibuprofen;Placebo
19 SMR Stemless Shoulder Arthroplasty Clinical Study Recruiting NCT02679352 Not Applicable
20 Anatomical Shoulder™ Inverse/Reverse Study Active, not recruiting NCT02466321 Not Applicable
21 Costs and Consequences of Three Common Orthopedic Procedures on the Upper Extremity Active, not recruiting NCT01954433
22 Reverse Total Shoulder Arthroplasty: A Data Analysis on Patients Undergoing Reverse Total Shoulder Arthroplasty Active, not recruiting NCT03617107
23 Database Retrieval for the Comprehensive Shoulder Active, not recruiting NCT03409718
24 COMPREHENSIVE® REVERSE SHOULDER Mini BasePlate Active, not recruiting NCT02084693
25 Safety Study of Univers® Revers Shoulder Prosthesis Active, not recruiting NCT01778777 Not Applicable
26 Functional and Radiographic Outcomes After Shoulder Surgery Enrolling by invitation NCT01405781
27 Abduction Brace Versus Antirotation Sling for Immobilization Following Reverse Shoulder Arthroplasty and Rotator Cuff Repair Not yet recruiting NCT03488433 Not Applicable
28 Massive Rotator Cuff Tear Reconstruction Not yet recruiting NCT03425500 Not Applicable
29 Long-term Clinical Effectiveness of the Delta Xtend Reverse Total Shoulder Terminated NCT00737087 Not Applicable

Search NIH Clinical Center for Chondrocalcinosis

Genetic Tests for Chondrocalcinosis

Genetic tests related to Chondrocalcinosis:

# Genetic test Affiliating Genes
1 Chondrocalcinosis 29

Anatomical Context for Chondrocalcinosis

MalaCards organs/tissues related to Chondrocalcinosis:

41
Bone, Prostate, Lung, Testes, Thyroid, Kidney

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

19
Joint

Publications for Chondrocalcinosis

Articles related to Chondrocalcinosis:

(show top 50) (show all 376)
# 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
Coexisting polyarticular septic arthritis, gout and pseudogout. ( 30373898 )
2018
5
Ultrasonography, an operator-dependent modality versus dual-energy computed tomography (DECT) in the detection of chondrocalcinosis: with regard to Tanikawa et al.'s study. ( 30326939 )
2018
6
Diagnosis and Treatment of Gout and Pseudogout for Everyday Practice. ( 29759121 )
2018
7
An investigation of the independent risk factors that differentiate gout from pseudogout in patients with crystal-induced acute arthritis: a cross-sectional study. ( 29214345 )
2018
8
Diagnosis of pseudo-gout (calcium pyrophosphate deposition disease) clinched on cytology. ( 29638036 )
2018
9
Calcium pyrophosphate deposition disease: a frequent finding in patients with long-standing erosive gout. ( 28812408 )
2018
10
Pseudogout: An Autoimmune Paraneoplastic Manifestation of Myelodysplastic Syndrome. ( 30498647 )
2018
11
Crowned Dens Syndrome: Calcium Pyrophosphate Deposition Disease Masquerading as Osteomyelitis. ( 30275340 )
2018
12
A Radiographic Double Contour Sign Mimicking Pseudogout. ( 29346194 )
2018
13
Pseudogout - a rare manifestation of hungry bone syndrome after focused parathyroidectomy. ( 29607728 )
2018
14
Pseudogout among Patients Fulfilling a Billing Code Algorithm for Calcium Pyrophosphate Deposition Disease. ( 29666904 )
2018
15
Acute pseudogout after cinacalcet treatment. ( 30243323 )
2018
16
A Case of Tophaceous Pseudogout on 18F-FDG PET/CT Imaging. ( 30325826 )
2018
17
Destructive lesion of the temporomandibular joint: A case of tophaceous pseudogout. ( 30540897 )
2018
18
Severe Abdominal Pain as a Manifestation of Pseudogout in Pubic Symphysis. ( 30543326 )
2018
19
Concomitant Parvimonas micra Septic Arthritis and Pseudogout After Total Knee Arthroplasty. ( 29470261 )
2018
20
An Unusual Case of Acute Chondrocalcinosis in Wrist Joint Presenting as Cellulitis. ( 29441250 )
2017
21
Lumbar Spine Chondrocalcinosis. ( 28765345 )
2017
22
Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies. ( 29104755 )
2017
23
Association of Chondrocalcinosis in Knee Joints With Pain and Synovitis: Data From the Osteoarthritis Initiative. ( 28129488 )
2017
24
Low prevalence of knee chondrocalcinosis and its catabolic association by use of serum matrix metalloproteinase 3: A rural Japanese population study. ( 28337851 )
2017
25
Dose-response relationship between lower serum magnesium level and higher prevalence of knee chondrocalcinosis. ( 29065924 )
2017
26
Prevalence of Chondrocalcinosis in Patients above 50 Years and the Relationship with Osteoarthritis. ( 28828349 )
2017
27
Calcium Pyrophosphate Crystal Inflammatory Arthritis (Pseudogout) with Myelodysplastic Syndrome: A New Paraneoplastic Syndrome? ( 28668819 )
2017
28
A case of tophaceous pseudogout of the temporomandibular joint extending to the base of the skull. ( 27641810 )
2017
29
Incident acute pseudogout and prior bisphosphonate use: Matched case-control study in the UK-Clinical Practice Research Datalink. ( 28328803 )
2017
30
Pseudogout of the cervical and thoracic spine mimicking infection after lumbar fusion: case report. ( 28524751 )
2017
31
Acute pseudogout of the foot following Parathyroidectomy: a case report. ( 29177077 )
2017
32
Chondrocalcinosis and Gitelman syndrome. ( 27026693 )
2016
33
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome. ( 27303630 )
2016
34
Rapid Growth of Lung Nodules due to Combined Pulmonary Vasculitis, Silicoanthracosis, and Chondrocalcinosis. ( 27478398 )
2016
35
The prevalence of chondrocalcinosis of the symphysis pubis on CT scan and correlation with calcium pyrophosphate dihydrate crystal deposition disease. ( 26861035 )
2016
36
Evaluation of Chondrocalcinosis and Associated Knee Joint Degeneration Using MR Imaging: Data from the Osteoarthritis Initiative. ( 27704199 )
2016
37
Prevalence of asymptomatic chondrocalcinosis in the pelvis. ( 27037810 )
2016
38
Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study. ( 27339375 )
2016
39
Ultrasonography: A Useful Tool for the Diagnosis of Chondrocalcinosis of the Sternoclavicular Joint. ( 27252495 )
2016
40
A Point-of-Care Raman Spectroscopy-Based Device for the Diagnosis of Gout and Pseudogout: Comparison With the Clinical Standard Microscopy. ( 26882173 )
2016
41
Gout and pseudogout. ( 26914781 )
2016
42
Acute Mono-Arthritis of the Knee: A Case Report of Infection with Parvimonas Micra and Concomitant Pseudogout. ( 28529856 )
2016
43
Pseudogout in a patient with bilateral total knee prosthesis: A challenging diagnosis. ( 26639218 )
2016
44
Recurrent Craniocervical Pseudogout: Indications for Surgical Resection, Surveillance Imaging, and Craniocervical Fixation. ( 27026835 )
2016
45
Tumoral pseudogout of the proximal interphalangeal joint of a finger: a case report and literature review. ( 27048476 )
2016
46
Acute neck pain caused by pseudogout attack of calcified cervical yellow ligament: a case report. ( 27237823 )
2016
47
Chondrogenesis in the synovial tissue is associated with the onset of pseudogout after total knee arthroplasty. ( 28326409 )
2016
48
Acute Pseudogout Arthritis in a Patient Using Diuretics. ( 29900962 )
2016
49
Comparison of outcomes after UKA in patients with and without chondrocalcinosis: a matched cohort study. ( 25786825 )
2015
50
Does chondrocalcinosis associate with a distinct radiographic phenotype of osteoarthritis in knees and hips? - a case-control study. ( 26223458 )
2015

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 GRCh37 Chromosome 5, 14707758: 14707758
26 ANKH NM_054027.4(ANKH): c.*3548G> A single nucleotide variant Uncertain significance rs539426552 GRCh38 Chromosome 5, 14707649: 14707649
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 GRCh37 Chromosome 5, 14710513: 14710513
50 ANKH NM_054027.4(ANKH): c.*793A> G single nucleotide variant Uncertain significance rs377136068 GRCh38 Chromosome 5, 14710404: 14710404

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 integral component of plasma membrane GO:0005887 9.35 ANKH CASR ENPP1 HFE SLC12A3
2 plasma membrane GO:0005886 9.28 ALPL ANKH AP2S1 CASR ENPP1 GNA11

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
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35 ICD9CM
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40 LOVD
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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