MCID: FML307
MIFTS: 33

Familial Calcium Pyrophosphate Deposition

Categories: Bone diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Calcium Pyrophosphate Deposition

MalaCards integrated aliases for Familial Calcium Pyrophosphate Deposition:

Name: Familial Calcium Pyrophosphate Deposition 59
Calcium Pyrophosphate Dihydrate Crystal Deposition Disease 59 55
Hereditary Calcium Pyrophosphate Deposition 59
Calcium Pyrophosphate Deposition Disease 73
Hereditary Articular Chondrocalcinosis 59
Familial Articular Chondrocalcinosis 59
Calcium Pyrophosphate Arthropathy 73
Familial Cppd 59
Hereditary Cc 59
Familial Cc 59

Characteristics:

Orphanet epidemiological data:

59
familial calcium pyrophosphate deposition
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA1416
ICD10 via Orphanet 34 M11.1
UMLS via Orphanet 74 C0553730 C0856830

Summaries for Familial Calcium Pyrophosphate Deposition

MalaCards based summary : Familial Calcium Pyrophosphate Deposition, also known as calcium pyrophosphate dihydrate crystal deposition disease, is related to chondrocalcinosis 2 and olecranon bursitis. An important gene associated with Familial Calcium Pyrophosphate Deposition is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). The drugs Colchicine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include bone and b cells, and related phenotypes are chondrocalcinosis and seizures

Wikipedia : 76 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

Related Diseases for Familial Calcium Pyrophosphate Deposition

Diseases related to Familial Calcium Pyrophosphate Deposition via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 2 11.5
2 olecranon bursitis 10.3
3 bursitis 10.3
4 osteomyelitis 10.2
5 discitis 10.2
6 chondrocalcinosis 10.2
7 hydrarthrosis 10.2
8 synovial chondromatosis 10.2
9 intermittent hydrarthrosis 10.2

Graphical network of the top 20 diseases related to Familial Calcium Pyrophosphate Deposition:



Diseases related to Familial Calcium Pyrophosphate Deposition

Symptoms & Phenotypes for Familial Calcium Pyrophosphate Deposition

Human phenotypes related to Familial Calcium Pyrophosphate Deposition:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
4 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
5 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
6 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
7 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
8 abnormality of the intervertebral disk 59 32 hallmark (90%) Very frequent (99-80%) HP:0005108
9 calcification of cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100593
10 arthritis 59 Very frequent (99-80%)

Drugs & Therapeutics for Familial Calcium Pyrophosphate Deposition

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

Genetic Tests for Familial Calcium Pyrophosphate Deposition

Anatomical Context for Familial Calcium Pyrophosphate Deposition

MalaCards organs/tissues related to Familial Calcium Pyrophosphate Deposition:

41
Bone, B Cells

Publications for Familial Calcium Pyrophosphate Deposition

Articles related to Familial Calcium Pyrophosphate Deposition:

(show all 17)
# Title Authors Year
1
The prevalence of chondrocalcinosis of the symphysis pubis on CT scan and correlation with calcium pyrophosphate dihydrate crystal deposition disease. ( 26861035 )
2016
2
Upregulation of ANK protein expression in joint tissue in calcium pyrophosphate dihydrate crystal deposition disease. ( 24293574 )
2014
3
Calcium pyrophosphate dihydrate crystal deposition disease (pseudogout) of lumbar spine mimicking osteomyelitis-discitis with epidural phlegmon. ( 24078961 )
2013
4
Synovial chondromatosis of the temporomandibular joint with calcium pyrophosphate dihydrate crystal deposition disease (pseudogout). ( 23166363 )
2012
5
May some cases of intermittent hydrarthrosis represent an atypical form of calcium pyrophosphate dihydrate crystal deposition disease? Usefulness of mutational analysis of the MEFV gene. ( 17889261 )
2008
6
Tumoural calcium pyrophosphate dihydrate crystal deposition disease (tophaceous pseudogout) of the hand: a report of two cases including one with a previously unreported associated florid reactive myofibroblastic proliferation. ( 18985528 )
2008
7
Elevated parathyroid hormone 44-68 in idiopathic calcium pyrophosphate dihydrate crystal deposition disease. Role of menopause and iron metabolism? ( 18061978 )
2008
8
The ANKH I9E490Mutation in Calcium Pyrophosphate Dihydrate Crystal Deposition Disease (CPPDD) affects tissue non-specific Alkaline Phosphatase (TNAP) activities. ( 19088867 )
2008
9
Inhibition of alkaline phosphatase by cysteine: implications for calcium pyrophosphate dihydrate crystal deposition disease. ( 17516619 )
2007
10
Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. ( 13130483 )
2003
11
Cartilage intermediate layer protein expression in calcium pyrophosphate dihydrate crystal deposition disease. ( 12180739 )
2002
12
Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease. ( 12483726 )
2002
13
Tophaceous pseudogout (tumoral calcium pyrophosphate dihydrate crystal deposition disease). ( 7774886 )
1995
14
Calcium pyrophosphate dihydrate crystal deposition disease and pseudogout of the acromioclavicular joint: radiographic and pathologic features. ( 8014936 )
1993
15
Olecranon bursitis related to calcium pyrophosphate dihydrate crystal deposition disease. ( 6303361 )
1983
16
Olecranon bursitis related to calcium pyrophosphate dihydrate crystal deposition disease. ( 6288056 )
1982
17
Roentgenographic aspects of calcium pyrophosphate dihydrate crystal deposition disease (pseudogout). ( 181013 )
1976

Variations for Familial Calcium Pyrophosphate Deposition

Expression for Familial Calcium Pyrophosphate Deposition

Search GEO for disease gene expression data for Familial Calcium Pyrophosphate Deposition.

Pathways for Familial Calcium Pyrophosphate Deposition

GO Terms for Familial Calcium Pyrophosphate Deposition

Sources for Familial Calcium Pyrophosphate Deposition

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....