CCAL2
MCID: CHN022
MIFTS: 35

Chondrocalcinosis 2 (CCAL2)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrocalcinosis 2

MalaCards integrated aliases for Chondrocalcinosis 2:

Name: Chondrocalcinosis 2 58 54 76 30 13 6
Calcium Pyrophosphate Arthropathy 58 54 76 74
Calcium Pyrophosphate Dihydrate Deposition Disease 58 76 56
Familial Articular Chondrocalcinosis 54 76 38
Calcium Gout 58 54 76
Ccal2 58 54 76
Cppdd 58 54 76
Calcium Pyrophosphate Dihydrate Deposition 56 74
Chondrocalcinosis, Familial Articular 58 76
Chondrocalcinosis Familial Articular 77 54
Familial Calcium Pyrophosphate Dihydrate Deposition Disease 54
Calcium Pyrophosphate Dihydrate Deposition Disease; Cppdd 58
Calcium Pyrophosphate Arthropathy, Familial 54
Chondrocalcinosis, Type 2 41
Calcium Gout, Familial 54
Pseudogout, Familial 54
Chondrocalcinosis 45

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
age of onset third decade
allelic to craniometaphyseal dysplasia


HPO:

33
chondrocalcinosis 2:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 118600
KEGG 38 H01236
MeSH 45 D002805
MedGen 43 C0856830

Summaries for Chondrocalcinosis 2

NIH Rare Diseases : 54 Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time). Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well as stiffness or swelling of the joints. Chondrocalcinosis 2 is actually a familial form of chondrocalcinosis (also known as calcium pyrophosphate deposition disease or CPPD), which is caused by a similar buildup of CPP crystals but is associated with the aging process. The age-related chondrocalcinosis is quite common, whereas chondrocalcinosis 2 is not. In addition, people with chondrocalcinosis 2 are more likely to have symptoms that develop earlier in adulthood than the age-related form.. Chondrocalcinosis 2 is caused by changes in the ANKH gene. The disease is inherited in an autosomal dominant manner. Chondrocalcinosis 2 is diagnosed based on imaging such as X-rays. The diagnosis can be confirmed with genetic testing of the ANKH gene. Treatment may include the use of corticosteroids, pain relievers, and physical therapy. 

MalaCards based summary : Chondrocalcinosis 2, also known as calcium pyrophosphate arthropathy, is related to chondrocalcinosis and craniometaphyseal dysplasia, autosomal dominant. An important gene associated with Chondrocalcinosis 2 is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). The drugs Calcium and Hormones have been mentioned in the context of this disorder. Affiliated tissues include testes and bone, and related phenotypes are osteoarthritis and arthropathy

OMIM : 58 Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia), and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). (118600)

UniProtKB/Swiss-Prot : 76 Chondrocalcinosis 2: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant.

Wikipedia : 77 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

Related Diseases for Chondrocalcinosis 2

Diseases in the Chondrocalcinosis family:

Chondrocalcinosis 2 Chondrocalcinosis Due to Apatite Crystal Deposition
Chondrocalcinosis 1

Diseases related to Chondrocalcinosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 30.4 ANKH OTULIN
2 craniometaphyseal dysplasia, autosomal dominant 28.9 ANKH OTULIN
3 chondrocalcinosis due to apatite crystal deposition 12.3
4 chondrocalcinosis 1 12.2
5 familial calcium pyrophosphate deposition 11.5
6 crystal arthropathies 11.5
7 familial hypocalciuric hypercalcemia 11.4
8 hypocalciuric hypercalcemia, familial, type i 11.2
9 hypocalciuric hypercalcemia, familial, type ii 11.1
10 hypomagnesemia 2, renal 11.1
11 hypocalciuric hypercalcemia, familial, type iii 11.1
12 primary hypomagnesemia 11.1
13 osteoarthritis 10.6
14 arthritis 10.4
15 arthropathy 10.3
16 tumoral calcinosis, hyperphosphatemic, familial, 1 10.3
17 hypothyroidism 10.3
18 rheumatoid arthritis 10.2
19 hyperparathyroidism 10.2
20 carpal tunnel syndrome 10.2
21 chondrosarcoma 10.2
22 gitelman syndrome 10.2
23 mononeuropathy of the median nerve, mild 10.2
24 tendinitis 10.2
25 fibroma 10.2
26 epidural abscess 10.2
27 calcific tendinitis 10.2
28 tenosynovitis 10.2
29 calcifying aponeurotic fibroma 10.2
30 joint disorders 10.2
31 pseudoarthrosis 10.2
32 spondyloarthropathy 1 10.1
33 hemochromatosis, type 1 10.1
34 primary hyperparathyroidism 10.1
35 spondylitis 10.1
36 juvenile hereditary hemochromatosis 10.1
37 tumoral calcinosis, normophosphatemic, familial 10.1
38 familial tumoral calcinosis 10.1
39 mammary paget's disease 10.1
40 paget's disease of bone 10.1
41 polymyositis 10.1
42 osteochondritis dissecans 10.0
43 osteochondrosis 10.0
44 hyperostosis 10.0
45 synovitis 10.0
46 diffuse idiopathic skeletal hyperostosis 10.0
47 idiopathic avascular necrosis 10.0
48 gout 10.0
49 calcinosis 10.0
50 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8

Graphical network of the top 20 diseases related to Chondrocalcinosis 2:



Diseases related to Chondrocalcinosis 2

Symptoms & Phenotypes for Chondrocalcinosis 2

Human phenotypes related to Chondrocalcinosis 2:

33
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 33 HP:0002758
2 arthropathy 33 HP:0003040
3 polyarticular chondrocalcinosis 33 HP:0005017

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
osteoarthritis
arthropathy
polyarticular chondrocalcinosis (cartilage calcification)
calcium pyrophsophate dihydrate (cppd) crystal deposition (knee, symphysis pubis, wrist)
pseudoosteoarthritis
more

Clinical features from OMIM:

118600

Drugs & Therapeutics for Chondrocalcinosis 2

Drugs for Chondrocalcinosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical 7440-70-2 271
2 Hormones
3 Bone Density Conservation Agents
4 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnostic Rentability of Screening for Associated Conditions in Calcium Pyrophosphate Deposition Disease Patients Completed NCT00453128

Search NIH Clinical Center for Chondrocalcinosis 2

Cochrane evidence based reviews: chondrocalcinosis

Genetic Tests for Chondrocalcinosis 2

Genetic tests related to Chondrocalcinosis 2:

# Genetic test Affiliating Genes
1 Chondrocalcinosis 2 30 ANKH

Anatomical Context for Chondrocalcinosis 2

MalaCards organs/tissues related to Chondrocalcinosis 2:

42
Testes, Bone

Publications for Chondrocalcinosis 2

Articles related to Chondrocalcinosis 2:

(show all 11)
# Title Authors Year
1
Recurrent Painful Calcium Pyrophosphate Arthropathy. ( 28241333 )
2017
2
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. ( 19449425 )
2009
3
Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. ( 13130483 )
2003
4
Mutations in ANKH cause chondrocalcinosis. ( 12297987 )
2002
5
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. ( 12297989 )
2002
6
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. ( 11326272 )
2001
7
[Calcium pyrophosphate arthropathy (pseudogout) of the temporomandibular joint]. ( 11272390 )
2001
8
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. ( 9915952 )
1999
9
Localisation of a gene for chondrocalcinosis to chromosome 5p. ( 8528213 )
1995
10
Calcium pyrophosphate arthropathy of the spine: case report and review of the literature. ( 8052394 )
1994
11
Dominant craniometaphyseal dysplasia--a family study over five generations. ( 2712793 )
1989

Variations for Chondrocalcinosis 2

UniProtKB/Swiss-Prot genetic disease variations for Chondrocalcinosis 2:

76
# Symbol AA change Variation ID SNP ID
1 ANKH p.Met48Thr VAR_017556 rs121908407
2 ANKH p.Pro5Leu VAR_022606 rs121908409
3 ANKH p.Pro5Thr VAR_022607 rs121908410

ClinVar genetic disease variations for Chondrocalcinosis 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ANKH NM_054027.4(ANKH): c.13C> A (p.Pro5Thr) single nucleotide variant Pathogenic rs121908410 GRCh38 Chromosome 5, 14871435: 14871435
2 ANKH NM_054027.4(ANKH): c.13C> A (p.Pro5Thr) single nucleotide variant Pathogenic rs121908410 GRCh37 Chromosome 5, 14871544: 14871544
3 ANKH NM_054027.4(ANKH): c.14C> T (p.Pro5Leu) single nucleotide variant Pathogenic rs121908409 GRCh38 Chromosome 5, 14871434: 14871434
4 ANKH NM_054027.4(ANKH): c.14C> T (p.Pro5Leu) single nucleotide variant Pathogenic rs121908409 GRCh37 Chromosome 5, 14871543: 14871543
5 ANKH ANKH, -11C-T single nucleotide variant Pathogenic
6 ANKH NM_054027.4(ANKH): c.143T> C (p.Met48Thr) single nucleotide variant Pathogenic rs121908407 GRCh38 Chromosome 5, 14769145: 14769145
7 ANKH NM_054027.4(ANKH): c.143T> C (p.Met48Thr) single nucleotide variant Pathogenic rs121908407 GRCh37 Chromosome 5, 14769254: 14769254
8 ANKH NM_054027.4(ANKH): c.1165G> A (p.Gly389Arg) single nucleotide variant Pathogenic rs28939080 GRCh38 Chromosome 5, 14713644: 14713644
9 ANKH NM_054027.4(ANKH): c.1165G> A (p.Gly389Arg) single nucleotide variant Pathogenic rs28939080 GRCh37 Chromosome 5, 14713753: 14713753

Expression for Chondrocalcinosis 2

Search GEO for disease gene expression data for Chondrocalcinosis 2.

Pathways for Chondrocalcinosis 2

GO Terms for Chondrocalcinosis 2

Sources for Chondrocalcinosis 2

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
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