CCAL2
MCID: CHN022
MIFTS: 30

Chondrocalcinosis 2 (CCAL2)

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Chondrocalcinosis 2

MalaCards integrated aliases for Chondrocalcinosis 2:

Name: Chondrocalcinosis 2 57 53 75 29 13 6
Calcium Pyrophosphate Arthropathy 57 53 75 73
Calcium Pyrophosphate Dihydrate Deposition Disease 57 75 55
Familial Articular Chondrocalcinosis 53 75 37
Calcium Gout 57 53 75
Ccal2 57 53 75
Cppdd 57 53 75
Calcium Pyrophosphate Dihydrate Deposition 55 73
Chondrocalcinosis, Familial Articular 57 75
Chondrocalcinosis Familial Articular 76 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
MedGen 42 C0856830
MeSH 44 D002805
KEGG 37 H01236

Summaries for Chondrocalcinosis 2

NIH Rare Diseases : 53 Chondrocalcinoisis 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 familial calcium pyrophosphate deposition. An important gene associated with Chondrocalcinosis 2 is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). The drugs Bone Density Conservation Agents and Calcium, Dietary 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 14)
# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 28.5 ANKH OTULIN
2 familial calcium pyrophosphate deposition 11.3
3 crystal arthropathies 11.3
4 carpal tunnel syndrome 10.1
5 gitelman syndrome 10.1
6 mononeuropathy of the median nerve, mild 10.1
7 tendinitis 10.1
8 epidural abscess 10.1
9 gout 10.1
10 calcific tendinitis 10.1
11 calcinosis 10.1
12 calcifying aponeurotic fibroma 10.1
13 arthropathy 9.9
14 craniometaphyseal dysplasia, autosomal dominant 9.1 ANKH OTULIN

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



Diseases related to Chondrocalcinosis 2

Symptoms & Phenotypes for Chondrocalcinosis 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
polyarticular chondrocalcinosis (cartilage calcification)
calcium pyrophsophate dihydrate (cppd) crystal deposition (knee, symphysis pubis, wrist)
pseudoosteoarthritis
pseudogout
arthropathy
more

Clinical features from OMIM:

118600

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

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 Bone Density Conservation Agents
2 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

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:

# Title Authors Year
1
[Calcium pyrophosphate arthropathy (pseudogout) of the temporomandibular joint]. ( 11272390 )
2001

Variations for Chondrocalcinosis 2

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

75
# 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.1165G> A (p.Gly389Arg) single nucleotide variant Pathogenic rs28939080 GRCh37 Chromosome 5, 14713753: 14713753
2 ANKH NM_054027.4(ANKH): c.1165G> A (p.Gly389Arg) single nucleotide variant Pathogenic rs28939080 GRCh38 Chromosome 5, 14713644: 14713644
3 ANKH NM_054027.4(ANKH): c.143T> C (p.Met48Thr) single nucleotide variant Pathogenic rs121908407 GRCh37 Chromosome 5, 14769254: 14769254
4 ANKH NM_054027.4(ANKH): c.143T> C (p.Met48Thr) single nucleotide variant Pathogenic rs121908407 GRCh38 Chromosome 5, 14769145: 14769145
5 ANKH ANKH, -11C-T single nucleotide variant Pathogenic
6 ANKH NM_054027.4(ANKH): c.14C> T (p.Pro5Leu) single nucleotide variant Pathogenic rs121908409 GRCh37 Chromosome 5, 14871543: 14871543
7 ANKH NM_054027.4(ANKH): c.14C> T (p.Pro5Leu) single nucleotide variant Pathogenic rs121908409 GRCh38 Chromosome 5, 14871434: 14871434
8 ANKH NM_054027.4(ANKH): c.13C> A (p.Pro5Thr) single nucleotide variant Pathogenic rs121908410 GRCh37 Chromosome 5, 14871544: 14871544
9 ANKH NM_054027.4(ANKH): c.13C> A (p.Pro5Thr) single nucleotide variant Pathogenic rs121908410 GRCh38 Chromosome 5, 14871435: 14871435

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 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
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