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 57 53 74 29 13 6
Calcium Pyrophosphate Arthropathy 57 53 74 72
Calcium Pyrophosphate Dihydrate Deposition Disease 57 74 55
Familial Articular Chondrocalcinosis 53 74 37
Calcium Gout 57 53 74
Ccal2 57 53 74
Cppdd 57 53 74
Calcium Pyrophosphate Dihydrate Deposition 55 72
Chondrocalcinosis, Familial Articular 57 74
Chondrocalcinosis Familial Articular 75 53
Familial Calcium Pyrophosphate Dihydrate Deposition Disease 53
Calcium Pyrophosphate Dihydrate Deposition Disease; Cppdd 57
Calcium Pyrophosphate Arthropathy, Familial 53
Chondrocalcinosis, Type 2 40
Calcium Gout, Familial 53
Pseudogout, Familial 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
age of onset third decade
allelic to craniometaphyseal dysplasia ()


HPO:

32
chondrocalcinosis 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 57 118600
KEGG 37 H01236
MeSH 44 D002805
MedGen 42 C0856830
UMLS 72 C0242217 C0856830

Summaries for Chondrocalcinosis 2

NIH Rare Diseases : 53 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 crystal arthropathies. 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 : 57 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)

KEGG : 37
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. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2). It has been suggested that mutations in the ANKH gene, which is located on the chromosome 5p, are one cause of chondrocalcinosis.

UniProtKB/Swiss-Prot : 74 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 : 75 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 all 46)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 29.0 OTULIN ANKH
2 crystal arthropathies 11.9
3 familial calcium pyrophosphate deposition 11.7
4 obsolete: familial articular chondrocalcinosis type 2 11.3
5 arthropathy 10.5
6 synovitis 10.5
7 chondrosarcoma 10.4
8 hyperparathyroidism 10.4
9 hypothyroidism 10.4
10 end stage renal failure 10.4
11 carpal tunnel syndrome 10.2
12 temporal arteritis 10.2
13 hemochromatosis, type 1 10.2
14 gitelman syndrome 10.2
15 hypophosphatemic rickets, x-linked recessive 10.2
16 tendinitis 10.2
17 fibroma 10.2
18 osteomyelitis 10.2
19 rickets 10.2
20 epidural abscess 10.2
21 calcific tendinitis 10.2
22 giant cell tumor 10.2
23 ankylosis 10.2
24 acromegaly 10.2
25 chondroma 10.2
26 tenosynovial giant cell tumor 10.2
27 paraplegia 10.2
28 septic arthritis 10.2
29 osteoarthritis 10.2
30 tenosynovitis 10.2
31 back pain 10.2
32 spasticity 10.2
33 calcifying aponeurotic fibroma 10.2
34 obsolete: familial articular chondrocalcinosis type 1 10.2
35 spondylosis, cervical 10.2
36 hypophosphatasia, infantile 10.2
37 wilson disease 10.2
38 hypophosphatasia 10.2
39 exostosis 10.2
40 spondylosis 10.2
41 spinal stenosis 10.2
42 arthritis 10.2
43 calcinosis 10.2
44 gout 9.9
45 nephrocalcinosis 9.8
46 craniometaphyseal dysplasia, autosomal dominant 9.1 OTULIN ANKH

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:

32
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 32 HP:0002758
2 arthropathy 32 HP:0003040
3 polyarticular chondrocalcinosis 32 HP:0005017

Symptoms via clinical synopsis from OMIM:

57
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 Calcium, Dietary
4 Bone Density Conservation Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Appraisal of the Diagnostic Rentability of Thorough Analytical Screening Searching Associated Conditions in Patients Newly Diagnosed With Calcium Pyrophosphate Dihydrate Deposition Disease Completed NCT00453128

Search NIH Clinical Center for Chondrocalcinosis 2

Genetic Tests for Chondrocalcinosis 2

Genetic tests related to Chondrocalcinosis 2:

# Genetic test Affiliating Genes
1 Chondrocalcinosis 2 29 ANKH

Anatomical Context for Chondrocalcinosis 2

MalaCards organs/tissues related to Chondrocalcinosis 2:

41
Testes, Bone

Publications for Chondrocalcinosis 2

Articles related to Chondrocalcinosis 2:

(show all 44)
# Title Authors PMID Year
1
Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. 9 38 8 71
13130483 2003
2
Mutations in ANKH cause chondrocalcinosis. 9 38 8 71
12297987 2002
3
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. 8 71
19449425 2009
4
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. 8 71
12297989 2002
5
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. 8 71
11326272 2001
6
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. 8 71
9915952 1999
7
Localisation of a gene for chondrocalcinosis to chromosome 5p. 8 71
8528213 1995
8
Dominant craniometaphyseal dysplasia--a family study over five generations. 8 71
2712793 1989
9
An update on the epidemiology of calcium pyrophosphate dihydrate crystal deposition disease. 8
19398486 2009
10
Familial chondrocalcinosis due to calcium pyrophosphate dihydrate crystal deposition in English families. 8
1846765 1991
11
Hereditary chondrocalcinosis in an Ashkenazi Jewish family. 8
2383078 1990
12
Familial articular chondrocalcinosis in Spain. 8
2383079 1990
13
Hereditary articular chondrocalcinosis. Clinical and genetic features in 13 pedigrees. 8
3422129 1988
14
Familial chondrocalcinosis in the Spanish population. 8
3735284 1986
15
[Familial articular chondrocalcinosis]. 8
2938143 1986
16
Hereditary chondrocalcinosis in a Mexican-American family. 8
6639697 1983
17
Hereditary pyrophosphate arthropathy (familial articular chondrocalcinosis) in Sweden. 8
6284421 1982
18
Pyrophosphate arthropathy in two Swedish families. 8
6279114 1982
19
Evidence of a generalized metabolic defect in patients with hereditary chondrocalcinosis. Increased inorganic pyrophosphate in cultured fibroblasts and lymphoblasts. 8
6275862 1981
20
Increased pyrophosphate in fibroblasts and lymphoblasts from patients with hereditary diffuse articular chondrocalcinosis. 8
6270793 1981
21
Familial articular chondrocalcinosis in Quebec. 8
7213442 1981
22
Familial chondrocalcinosis. Prevalence in Northern Spain and clinical features in five pedigrees. 8
7370061 1980
23
Hereditary diffuse articular chondrocalcinosis. Dominant manifestation without close linkage with the HLA system in a large pedigree. 8
607388 1977
24
Calcium pyrophosphate dihydrate crystal deposition disease--1975. 8
181010 1976
25
Articular chondrocalcinosis in the Chiloe Islanders. 8
181016 1976
26
Familial chondrocalcinosis in the Chiloe Islands, Chile. 8
168817 1975
27
The articular cartilage in familial chondrocalcinosis. Light and electron microscopic study. 8
4139958 1974
28
A hereditary type of idiopathic articular chondrocalcinosis. Survey of a pedigree. 8
4813649 1974
29
Polyarticular and familial chondrocalcinosis. 8
5423813 1970
30
CHONDROCALCINOSIS (PSEUDOGOUT SYNDROME). A FAMILY STUDY. 8
14132554 1964
31
CHONDROCALCINOSIS. 8
14131670 1964
32
THE ROENTGENOGRAPHIC ASPECTS OF PSEUDOGOUT (ARTICULAR CHONDROCALCINOSIS). AN ANALYSIS OF 20 CASES. 8
14081431 1963
33
Chondrocalcinosis articularis. Section II. Genetic study. 8
13995942 1963
34
The role of ANKH in pathologic mineralization of cartilage. 6
26599446 2016
35
The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease. 9 38
15474385 2004
36
Mutations in osteoprotegerin account for the CCAL1 locus in calcium pyrophosphate deposition disease. 38
29578045 2018
37
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. 38
27466194 2016
38
Inorganic pyrophosphate generation by transforming growth factor-beta-1 is mainly dependent on ANK induction by Ras/Raf-1/extracellular signal-regulated kinase pathways in chondrocytes. 9
18034874 2007
39
Role of the progressive ankylosis gene in cartilage mineralization. 9
16462526 2006
40
Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene. 9
12707589 2003
41
Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. 38
10610710 1999
42
[The femoropatellar endoprosthesis--still of value today?]. 38
10441831 1999
43
Early and late occurrences of destructive spondyloarthropathy in haemodialysed patients. 38
2113647 1990
44
[Tophaceous gout and articular chondrocalcinosis (2 recent cases)]. 38
5402741 1969

Variations for Chondrocalcinosis 2

ClinVar genetic disease variations for Chondrocalcinosis 2:

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

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

74
# 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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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