MCID: FML307
MIFTS: 34

Familial Calcium Pyrophosphate Deposition

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare 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 rheumatoid arthritis. An important gene associated with Familial Calcium Pyrophosphate Deposition is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). Affiliated tissues include bone, and related phenotypes are joint dislocation and osteoarthritis

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:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 2 11.7
2 rheumatoid arthritis 10.6
3 arthritis 10.6
4 osteoarthritis 10.5
5 olecranon bursitis 10.4
6 bursitis 10.4
7 osteoporosis 10.3
8 osteonecrosis 10.3
9 osteomyelitis 10.3
10 discitis 10.3
11 primary hyperparathyroidism 10.3
12 hyperparathyroidism 10.3
13 hyperostosis 10.3
14 hydrarthrosis 10.3
15 synovial chondromatosis 10.3
16 intermittent hydrarthrosis 10.3
17 chondrocalcinosis 10.3
18 arthropathy 10.0

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 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
2 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
5 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
6 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
7 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
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

Search Clinical Trials , 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

Publications for Familial Calcium Pyrophosphate Deposition

Articles related to Familial Calcium Pyrophosphate Deposition:

(show top 50) (show all 100)
# Title Authors Year
1
Calcium pyrophosphate dihydrate crystal deposition disease of the spinal dura mater: a case report. ( 30363166 )
2018
2
The prevalence of chondrocalcinosis of the symphysis pubis on CT scan and correlation with calcium pyrophosphate dihydrate crystal deposition disease. ( 26861035 )
2016
3
Diagnostic accuracy of ultrasound, conventional radiography and synovial fluid analysis in the diagnosis of calcium pyrophosphate dihydrate crystal deposition disease. ( 26886247 )
2016
4
Posterior C1-C2 calcium pyrophosphate dihydrate crystal deposition disease. ( 26976840 )
2016
5
Histology of the synovial membrane of patients affected by osteoarthritis and calcium pyrophosphate dihydrate crystal deposition disease vs. osteoarthritis alone: a pilot study. ( 27093480 )
2016
6
Calcium Pyrophosphate Dihydrate Crystal Deposition Disease Simulating Osteoarthrosis of the Knee: A Case Report. ( 27660600 )
2016
7
Calcium Pyrophosphate Dihydrate Crystal Deposition Disease of the Sternoclavicular Joint. ( 26693128 )
2015
8
A Rare Case of Tumoral Calcium Pyrophosphate Dihydrate Crystal Deposition Disease of the Wrist Joint. ( 26783477 )
2015
9
Upregulation of ANK protein expression in joint tissue in calcium pyrophosphate dihydrate crystal deposition disease. ( 24293574 )
2014
10
Imaging characteristics of calcium pyrophosphate dihydrate crystal deposition disease. ( 22561381 )
2014
11
Detection of calcium pyrophosphate dihydrate crystal deposition disease by dual-energy computed tomography. ( 24851080 )
2014
12
Musculoskeletal Ultrasound Diagnosis in Calcium Pyrophosphate Dihydrate Crystal Deposition Disease. ( 26788360 )
2014
13
Calcium pyrophosphate dihydrate crystal deposition disease (pseudogout) of lumbar spine mimicking osteomyelitis-discitis with epidural phlegmon. ( 24078961 )
2013
14
Flexor tendon rupture of the little finger caused by calcium pyrophosphate dihydrate crystal deposition disease of the pisotriquetrum joint. ( 24156589 )
2013
15
Synovial chondromatosis of the temporomandibular joint with calcium pyrophosphate dihydrate crystal deposition disease (pseudogout). ( 23166363 )
2012
16
The diagnosis of calcium pyrophosphate dihydrate crystal deposition disease: the good, the bad and… ultrasonography! ( 22842294 )
2012
17
A case of destructive calcium pyrophosphate dihydrate crystal deposition disease of the temporomandibular joint: a diagnostic challenge. ( 21676588 )
2011
18
Tumoral calcium pyrophosphate dihydrate crystal deposition disease: a rare diagnosis by fine-needle aspiration. ( 19688761 )
2010
19
Calcium pyrophosphate dihydrate crystal deposition disease: sonographic findings. ( 19005616 )
2009
20
An update on the epidemiology of calcium pyrophosphate dihydrate crystal deposition disease. ( 19398486 )
2009
21
An idiopathic case of calcium pyrophosphate dihydrate crystal deposition disease with crowned dens syndrome in a young patient. ( 19668044 )
2009
22
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
23
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
24
Elevated parathyroid hormone 44-68 in idiopathic calcium pyrophosphate dihydrate crystal deposition disease. Role of menopause and iron metabolism? ( 18061978 )
2008
25
Pseudotumoral presentation of calcium pyrophosphate dihydrate crystal deposition disease. ( 18398954 )
2008
26
Tumoral calcium pyrophosphate dihydrate crystal deposition disease of the temporomandibular joint: identification on crystallography. ( 18844939 )
2008
27
Median nerve and ulnar nerve palsy caused by calcium pyrophosphate dihydrate crystal deposition disease: case report. ( 18929195 )
2008
28
Recurrent calcium pyrophosphate dihydrate crystal deposition disease in a patient with rheumatoid arthritis--associated osteoporosis. ( 19013387 )
2008
29
The ANKH ΔE490Mutation in Calcium Pyrophosphate Dihydrate Crystal Deposition Disease (CPPDD) affects tissue non-specific Alkaline Phosphatase (TNAP) activities. ( 19088867 )
2008
30
Comparison of characteristics of patients with and without calcium pyrophosphate dihydrate crystal deposition disease who underwent total knee replacement surgery for osteoarthritis. ( 17045495 )
2007
31
Inhibition of alkaline phosphatase by cysteine: implications for calcium pyrophosphate dihydrate crystal deposition disease. ( 17516619 )
2007
32
Familiar association of Gitelman's syndrome and calcium pyrophosphate dihydrate crystal deposition disease--a case report. ( 17666441 )
2007
33
Subcutaneous tendon rupture of extensor tendons on bilateral wrists associated with calcium pyrophosphate dihydrate crystal deposition disease. ( 17694274 )
2007
34
Calcium pyrophosphate dihydrate crystal deposition disease of the temporomandibular joint. ( 15752084 )
2005
35
Diagnosis of calcium pyrophosphate dihydrate crystal deposition disease: ultrasonographic criteria proposed. ( 15769921 )
2005
36
Massive calcium pyrophosphate dihydrate crystal deposition disease: a cause of pain of the temporomandibular joint. ( 15140740 )
2004
37
Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. ( 13130483 )
2003
38
The utility of alizarin red s staining in calcium pyrophosphate dihydrate crystal deposition disease. ( 12734902 )
2003
39
Calcium pyrophosphate dihydrate crystal deposition disease in cervical radiculomyelopathy. ( 12854880 )
2003
40
Calcium pyrophosphate dihydrate crystal deposition disease mimicking malignant soft tissue tumor. ( 12897986 )
2003
41
Calcium pyrophosphate dihydrate crystal deposition disease. ( 14593559 )
2003
42
Cartilage intermediate layer protein expression in calcium pyrophosphate dihydrate crystal deposition disease. ( 12180739 )
2002
43
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
44
Idiopathic widespread calcium pyrophosphate dihydrate crystal deposition disease in a young patient. ( 11904695 )
2002
45
A case of calcium pyrophosphate dihydrate crystal deposition disease presenting as an acute polyarthritis. ( 12068153 )
2002
46
Tumoural calcium pyrophosphate dihydrate crystal deposition disease presenting clinically as a malignant soft tissue mass diagnosed on fine needle aspiration biopsy. ( 12190291 )
2002
47
A very rare benign tumour in the parotid region: calcium pyrophosphate dihydrate crystal deposition disease. ( 11429081 )
2001
48
Tumoral calcium pyrophosphate dihydrate crystal deposition disease. A clinicopathologic analysis of five cases. ( 11482581 )
2001
49
Calcium pyrophosphate dihydrate crystal deposition disease in the temporomandibular joint: diagnostic difficulties and clonal chromosome aberrations in a case followed up for 5 years. ( 11573185 )
2001
50
Calcium pyrophosphate dihydrate crystal deposition disease and primary hyperparathyroidism associated with rheumatoid arthritis: description of 3 cases. ( 10728457 )
2000

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....