MCID: CHN059
MIFTS: 48

Chondrocalcinosis

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrocalcinosis

MalaCards integrated aliases for Chondrocalcinosis:

Name: Chondrocalcinosis 12 77 30 56 6 15
Pseudogout 12 77 56 74
Calcium Pyrophosphate Deposition Disease 12 74

Classifications:



External Ids:

Disease Ontology 12 DOID:1156
ICD9CM 36 712.1
NCIt 51 C34955
SNOMED-CT 69 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). The drugs Prednisone and Colchicine have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and b cells, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 77 Chondrocalcinosis or cartilage calcification is calcification (accumulation of calcium salts) in hyaline... 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 124)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 2 34.7 ANKH OTULIN
2 gitelman syndrome 32.3 CASR SLC12A3
3 familial hypocalciuric hypercalcemia 32.2 AP2S1 CASR GNA11
4 hypocalciuric hypercalcemia, familial, type i 31.9 AP2S1 CASR GNA11
5 hypocalciuric hypercalcemia, familial, type ii 31.7 AP2S1 CASR GNA11
6 hypocalciuric hypercalcemia, familial, type iii 31.7 AP2S1 CASR GNA11
7 arthropathy 30.6 ANKH HFE TNFRSF11B
8 craniometaphyseal dysplasia, autosomal dominant 30.2 ANKH OTULIN
9 spondyloarthropathy 1 29.8 ANKH MMP3 TNFRSF11B
10 hypophosphatasia, adult 29.7 ALPL ENPP1
11 hypophosphatasia 29.7 ALPL ENPP1
12 ankylosis 29.7 ANKH TNFRSF11B
13 bone disease 29.4 ALPL CASR TNFRSF11B
14 chondrocalcinosis due to apatite crystal deposition 12.3
15 chondrocalcinosis 1 12.2
16 familial calcium pyrophosphate deposition 11.8
17 hypomagnesemia 2, renal 11.1
18 primary hypomagnesemia 11.1
19 osteoarthritis 10.6
20 joint disorders 10.5
21 arthritis 10.4
22 gout 10.4
23 tumoral calcinosis, hyperphosphatemic, familial, 1 10.3
24 hypothyroidism 10.3
25 rheumatoid arthritis 10.2
26 hyperparathyroidism 10.2
27 bartter disease 10.2 CASR SLC12A3
28 iron overload in africa 10.2 CASR HFE
29 hemochromatosis, type 1 10.1
30 primary hyperparathyroidism 10.1
31 spondylitis 10.1
32 juvenile hereditary hemochromatosis 10.1
33 tumoral calcinosis, normophosphatemic, familial 10.1
34 familial tumoral calcinosis 10.1
35 mineral metabolism disease 10.1 CASR SLC12A3
36 metal metabolism disorder 10.1 CASR HFE
37 secondary hyperparathyroidism of renal origin 10.1 CASR TNFRSF11B
38 carpal tunnel syndrome 10.1
39 mononeuropathy of the median nerve, mild 10.1
40 mammary paget's disease 10.1
41 paget's disease of bone 10.1
42 polymyositis 10.1
43 renal osteodystrophy 10.1 CASR TNFRSF11B
44 hemophilic arthropathy 10.1 HFE TNFRSF11B
45 spinal stenosis 10.1
46 synovial chondromatosis 10.1
47 hypocalcemia, autosomal dominant 1 10.1 CASR GNA11
48 dyschromatosis universalis hereditaria 10.0 ENPP1 GNA11
49 endosteal hyperostosis, autosomal dominant 10.0 ANKH TNFRSF11B
50 osteomyelitis 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 ALPL ANKH ENPP1 GNA11 OTULIN SLC12A3
2 growth/size/body region MP:0005378 9.97 ALPL ANKH CASR ENPP1 GNA11 HFE
3 hematopoietic system MP:0005397 9.92 ALPL ANKH CASR GNA11 HFE MMP3
4 homeostasis/metabolism MP:0005376 9.86 ALPL ANKH CASR ENPP1 GNA11 HFE
5 craniofacial MP:0005382 9.8 ALPL ANKH GNA11 OTULIN TNFRSF11B
6 immune system MP:0005387 9.76 ALPL ANKH CASR ENPP1 GNA11 HFE
7 limbs/digits/tail MP:0005371 9.43 ALPL ANKH ENPP1 GNA11 HFE TNFRSF11B
8 skeleton MP:0005390 9.28 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
Colchicine Approved Phase 3 64-86-8 2833 6167
3
Povidone Approved Phase 3 9003-39-8
4
Ketorolac Approved Phase 3 74103-06-3, 66635-83-4 3826
5
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
6
Calcium Approved, Nutraceutical Phase 3,Early Phase 1 7440-70-2 271
7 Calcium, Dietary Phase 3,Early Phase 1
8 Hormones Phase 3
9 Antimitotic Agents Phase 3
10 Antineoplastic Agents, Hormonal Phase 3
11 Anti-Inflammatory Agents Phase 3,Not Applicable
12 glucocorticoids Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
14 Antirheumatic Agents Phase 3,Early Phase 1,Not Applicable
15 Hormone Antagonists Phase 3
16 Triamcinolone hexacetonide Phase 3
17 Triamcinolone diacetate Phase 3
18 triamcinolone acetonide Phase 3
19
Acetaminophen Approved Phase 2,Not Applicable 103-90-2 1983
20
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
21 Botulinum Toxins Phase 2
22 Neurotransmitter Agents Phase 2
23 Acetylcholine Release Inhibitors Phase 2
24 Botulinum Toxins, Type A Phase 2
25 Peripheral Nervous System Agents Phase 2,Not Applicable
26 Neuromuscular Agents Phase 2
27 abobotulinumtoxinA Phase 2
28 Cholinergic Agents 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
Guaifenesin Approved, Investigational, Vet_approved Not Applicable 93-14-1 3516
34
Ibuprofen Approved Not Applicable 15687-27-1 3672
35
Hydrocodone Approved, Illicit, Investigational Not Applicable 125-29-1 5284569
36
Histamine Approved, Investigational 51-45-6 774
37
Cimetidine Approved, Investigational 51481-61-9 2756
38 Bone Density Conservation Agents
39 Hypnotics and Sedatives
40 Anesthetics, Intravenous
41 Central Nervous System Depressants ,Not Applicable
42 Anesthetics, General
43 Coagulants
44 Anesthetics
45 Arginine Vasopressin
46 Anesthetics, Inhalation
47 Natriuretic Agents
48 arginine
49 Hemostatics
50 Vasopressins

Interventional clinical trials:

(show all 30)
# 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? Completed 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 Abduction Brace Versus Antirotation Sling for Immobilization Following Reverse Shoulder Arthroplasty and Rotator Cuff Repair Recruiting NCT03488433 Not Applicable
17 Clinical and Radiological Outcomes of Medacta Shoulder System Recruiting NCT03547947
18 Impact of Humeral Component Version on Outcomes Following RTSA Recruiting NCT03111147 Not Applicable
19 Effect of Ibuprofen on Postoperative Opiate Medication Use and Shoulder Recruiting NCT02588027 Not Applicable Ibuprofen;Placebo
20 SMR Stemless Shoulder Arthroplasty Clinical Study Recruiting NCT02679352 Not Applicable
21 Anatomical Shoulder™ Inverse/Reverse Study Active, not recruiting NCT02466321 Not Applicable
22 Costs and Consequences of Three Common Orthopedic Procedures on the Upper Extremity Active, not recruiting NCT01954433
23 Reverse Total Shoulder Arthroplasty: A Data Analysis on Patients Undergoing Reverse Total Shoulder Arthroplasty Active, not recruiting NCT03617107
24 Database Retrieval for the Comprehensive Shoulder Active, not recruiting NCT03409718
25 COMPREHENSIVE® REVERSE SHOULDER Mini BasePlate Active, not recruiting NCT02084693
26 Safety Study of Univers® Revers Shoulder Prosthesis Active, not recruiting NCT01778777 Not Applicable
27 Functional and Radiographic Outcomes After Shoulder Surgery Enrolling by invitation NCT01405781
28 Identifying Novel Biomarkers in Early Rheumatology Patients Not yet recruiting NCT03843658
29 Massive Rotator Cuff Tear Reconstruction Not yet recruiting NCT03425500 Not Applicable
30 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 30

Anatomical Context for Chondrocalcinosis

MalaCards organs/tissues related to Chondrocalcinosis:

42
Bone, Thyroid, B Cells, Liver, Testes, Neutrophil, Lung

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

20
Joint

Publications for Chondrocalcinosis

Articles related to Chondrocalcinosis:

(show top 50) (show all 670)
# Title Authors Year
1
Calprotectin discriminates septic arthritis from pseudogout and rheumatoid arthritis. ( 30919904 )
2019
2
Low-dose computed tomography as diagnostic tool in calcium pyrophosphate deposition disease arthropathy: focus on ligamentous calcifications of the wrist. ( 31025927 )
2019
3
Association between chondrocalcinosis and osteoarthritis: A systematic review and meta-analysis. ( 31058426 )
2019
4
Temporal mandibular joint chondrocalcinosis (tophaceous pseudogout) diagnosed by ultrasound-guided fine-needle aspiration. ( 30908901 )
2019
5
A Rare Case of Gout and Pseudogout Occurring in the Same Joint. ( 31001386 )
2019
6
Dual-energy computed tomography for the noninvasive diagnosis of coexisting gout and calcium pyrophosphate deposition disease. ( 30985995 )
2019
7
A Case of Tophaceous Pseudogout on 18F-FDG PET/CT Imaging. ( 30325826 )
2019
8
Pseudogout: a rare cause of joint swelling during postoperative period. ( 31088822 )
2019
9
Recurrent pseudogout after therapy with immune checkpoint inhibitors: a case report with immunoprofiling of synovial fluid at each flare. ( 31088575 )
2019
10
An Unusual Case of Huge Tophaceous Pseudogout Mimicking as a Tumor-Like Lesion around the Ankle Joint: A Case Report and Literature Review. ( 30931157 )
2019
11
Acute pseudogout - Measure serum magnesium. ( 30813745 )
2019
12
Pseudogout - periarticular calcium pyrophosphate crystal deposition disease in a dog. ( 30775786 )
2019
13
Clinical Presentation, Management, and Prognosis of Pseudogout in Joint Arthroplasty: A Retrospective Cohort Study. ( 30755844 )
2019
14
A Case of Calcium Pyrophosphate Deposition Disease Involving a Lumbar Facet Joint Following Urinary Tract Infection. ( 30799353 )
2019
15
Pseudogout Attack after Pegfilgrastim Administration in Anaplastic Large Cell Lymphoma. ( 29434148 )
2018
16
Coexisting polyarticular septic arthritis, gout and pseudogout. ( 30373898 )
2018
17
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
18
Incidence of knee chondrocalcinosis and its risk factors in a community-based cohort. ( 29968327 )
2018
19
Coexisting Gout and Chondrocalcinosis on Hand Radiograph. ( 29717094 )
2018
20
Tophaceous Chondrocalcinosis Mimicking Chronic External Otitis. ( 29561381 )
2018
21
Pseudogout: An Autoimmune Paraneoplastic Manifestation of Myelodysplastic Syndrome. ( 30498647 )
2018
22
Crowned Dens Syndrome: Calcium Pyrophosphate Deposition Disease Masquerading as Osteomyelitis. ( 30275340 )
2018
23
A Radiographic Double Contour Sign Mimicking Pseudogout. ( 29346194 )
2018
24
Pseudogout - a rare manifestation of hungry bone syndrome after focused parathyroidectomy. ( 29607728 )
2018
25
Pseudogout among Patients Fulfilling a Billing Code Algorithm for Calcium Pyrophosphate Deposition Disease. ( 29666904 )
2018
26
Acute pseudogout after cinacalcet treatment. ( 30243323 )
2018
27
Destructive lesion of the temporomandibular joint: A case of tophaceous pseudogout. ( 30540897 )
2018
28
Severe Abdominal Pain as a Manifestation of Pseudogout in Pubic Symphysis. ( 30543326 )
2018
29
First Presentation of Acute Pseudogout Following Total Knee Replacement. ( 30687658 )
2018
30
Concomitant Parvimonas micra Septic Arthritis and Pseudogout After Total Knee Arthroplasty. ( 29470261 )
2018
31
Calcium pyrophosphate deposition disease: a frequent finding in patients with long-standing erosive gout. ( 28812408 )
2018
32
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
33
Diagnosis of pseudo-gout (calcium pyrophosphate deposition disease) clinched on cytology. ( 29638036 )
2018
34
Diagnosis and Treatment of Gout and Pseudogout for Everyday Practice. ( 29759121 )
2018
35
Concurrence of rheumatoid arthritis and calcium pyrophosphate deposition disease: A case collection and review of the literature. ( 29338885 )
2018
36
Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies. ( 29104755 )
2017
37
Dose-response relationship between lower serum magnesium level and higher prevalence of knee chondrocalcinosis. ( 29065924 )
2017
38
Prevalence of Chondrocalcinosis in Patients above 50 Years and the Relationship with Osteoarthritis. ( 28828349 )
2017
39
Lumbar Spine Chondrocalcinosis. ( 28765345 )
2017
40
Low prevalence of knee chondrocalcinosis and its catabolic association by use of serum matrix metalloproteinase 3: A rural Japanese population study. ( 28337851 )
2017
41
Association of Chondrocalcinosis in Knee Joints With Pain and Synovitis: Data From the Osteoarthritis Initiative. ( 28129488 )
2017
42
Evaluation of Chondrocalcinosis and Associated Knee Joint Degeneration Using MR Imaging: Data from the Osteoarthritis Initiative. ( 27704199 )
2017
43
Comparison of outcomes after UKA in patients with and without chondrocalcinosis: a matched cohort study. ( 25786825 )
2017
44
An Unusual Case of Acute Chondrocalcinosis in Wrist Joint Presenting as Cellulitis. ( 29441250 )
2017
45
A case of tophaceous pseudogout of the temporomandibular joint extending to the base of the skull. ( 27641810 )
2017
46
Incident acute pseudogout and prior bisphosphonate use: Matched case-control study in the UK-Clinical Practice Research Datalink. ( 28328803 )
2017
47
Pseudogout of the cervical and thoracic spine mimicking infection after lumbar fusion: case report. ( 28524751 )
2017
48
Acute pseudogout of the foot following Parathyroidectomy: a case report. ( 29177077 )
2017
49
Calcium Pyrophosphate Crystal Inflammatory Arthritis (Pseudogout) with Myelodysplastic Syndrome: A New Paraneoplastic Syndrome? ( 28668819 )
2017
50
Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D. ( 28109821 )
2017

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 GRCh38 Chromosome 5, 14705034: 14705034
6 ANKH NM_054027.4(ANKH): c.*6163A> G single nucleotide variant Likely benign rs182300014 GRCh37 Chromosome 5, 14705143: 14705143
7 ANKH NM_054027.4(ANKH): c.*6041T> C single nucleotide variant Uncertain significance rs886060066 GRCh38 Chromosome 5, 14705156: 14705156
8 ANKH NM_054027.4(ANKH): c.*6041T> C single nucleotide variant Uncertain significance rs886060066 GRCh37 Chromosome 5, 14705265: 14705265
9 ANKH NM_054027.4(ANKH): c.*6034A> C single nucleotide variant Uncertain significance rs886060067 GRCh38 Chromosome 5, 14705163: 14705163
10 ANKH NM_054027.4(ANKH): c.*6034A> C single nucleotide variant Uncertain significance rs886060067 GRCh37 Chromosome 5, 14705272: 14705272
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 GRCh38 Chromosome 5, 14707268: 14707269
20 ANKH NM_054027.4(ANKH): c.*3928_*3929delCG deletion Benign rs527918862 GRCh37 Chromosome 5, 14707377: 14707378
21 ANKH NM_054027.4(ANKH): c.*3928C> T single nucleotide variant Benign rs27911 GRCh38 Chromosome 5, 14707269: 14707269
22 ANKH NM_054027.4(ANKH): c.*3928C> T single nucleotide variant Benign rs27911 GRCh37 Chromosome 5, 14707378: 14707378
23 ANKH NM_054027.4(ANKH): c.*3616C> T single nucleotide variant Uncertain significance rs550672520 GRCh38 Chromosome 5, 14707581: 14707581
24 ANKH NM_054027.4(ANKH): c.*3616C> T single nucleotide variant Uncertain significance rs550672520 GRCh37 Chromosome 5, 14707690: 14707690
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 GRCh38 Chromosome 5, 14707811: 14707811
28 ANKH NM_054027.4(ANKH): c.*3386G> A single nucleotide variant Uncertain significance rs368727070 GRCh37 Chromosome 5, 14707920: 14707920
29 ANKH NM_054027.4(ANKH): c.*2770C> T single nucleotide variant Uncertain significance rs563898623 GRCh38 Chromosome 5, 14708427: 14708427
30 ANKH NM_054027.4(ANKH): c.*2770C> T single nucleotide variant Uncertain significance rs563898623 GRCh37 Chromosome 5, 14708536: 14708536
31 ANKH NM_054027.4(ANKH): c.*2694T> C single nucleotide variant Uncertain significance rs886060075 GRCh38 Chromosome 5, 14708503: 14708503
32 ANKH NM_054027.4(ANKH): c.*2694T> C single nucleotide variant Uncertain significance rs886060075 GRCh37 Chromosome 5, 14708612: 14708612
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 GRCh38 Chromosome 5, 14710139: 14710139
44 ANKH NM_054027.4(ANKH): c.*1058C> T single nucleotide variant Uncertain significance rs886060084 GRCh37 Chromosome 5, 14710248: 14710248
45 ANKH NM_054027.4(ANKH): c.*925T> C single nucleotide variant Likely benign rs115929672 GRCh38 Chromosome 5, 14710272: 14710272
46 ANKH NM_054027.4(ANKH): c.*925T> C single nucleotide variant Likely benign rs115929672 GRCh37 Chromosome 5, 14710381: 14710381
47 ANKH NM_054027.4(ANKH): c.*914A> C single nucleotide variant Likely benign rs556791755 GRCh38 Chromosome 5, 14710283: 14710283
48 ANKH NM_054027.4(ANKH): c.*914A> C single nucleotide variant Likely benign rs556791755 GRCh37 Chromosome 5, 14710392: 14710392
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

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 extracellular matrix GO:0031012 9.33 ALPL MMP3 TNFRSF11B
3 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....