CCAL1
MCID: CHN021
MIFTS: 17

Chondrocalcinosis 1 (CCAL1)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrocalcinosis 1

MalaCards integrated aliases for Chondrocalcinosis 1:

Name: Chondrocalcinosis 1 57 20
Chondrocalcinosis with Early-Onset Osteoarthritis 57 20 13 71
Ccal1 57 20
Calcium Pyrophosphate Dihydrate Deposition Disease 1; Cppdd1 57
Calcium Pyrophosphate Dihydrate Deposition Disease 1 57
Cppdd1 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant (8q)


HPO:

31
chondrocalcinosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 600668
MedGen 41 C1833499
UMLS 71 C1833499

Summaries for Chondrocalcinosis 1

MalaCards based summary : Chondrocalcinosis 1, also known as chondrocalcinosis with early-onset osteoarthritis, is related to chondrocalcinosis and chondrocalcinosis 2. An important gene associated with Chondrocalcinosis 1 is CCAL1 (Chondrocalcinosis 1 (Calcium Pyrophosphate-Deposition Disease, Early Onset Osteoarthritis)). Related phenotypes are osteoarthritis and chondrocalcinosis

Wikipedia : 74 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

More information from OMIM: 600668

Related Diseases for Chondrocalcinosis 1

Diseases in the Chondrocalcinosis family:

Chondrocalcinosis 2 Chondrocalcinosis Due to Apatite Crystal Deposition
Chondrocalcinosis 1

Diseases related to Chondrocalcinosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 11.1
2 chondrocalcinosis 2 11.0
3 osteoarthritis 10.0

Symptoms & Phenotypes for Chondrocalcinosis 1

Human phenotypes related to Chondrocalcinosis 1:

31
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 31 HP:0002758
2 chondrocalcinosis 31 HP:0000934

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Joints:
chondrocalcinosis
early-onset cpdd
severe degenerative osteoarthritis

Clinical features from OMIM®:

600668 (Updated 05-Mar-2021)

Drugs & Therapeutics for Chondrocalcinosis 1

Search Clinical Trials , NIH Clinical Center for Chondrocalcinosis 1

Genetic Tests for Chondrocalcinosis 1

Anatomical Context for Chondrocalcinosis 1

Publications for Chondrocalcinosis 1

Articles related to Chondrocalcinosis 1:

# Title Authors PMID Year
1
Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. 57
7887424 1995
2
[GUEPAR total trapeziometacarpal prosthesis in the treatment of arthritis of the thumb. 36 case reports]. 61
7688239 1993

Variations for Chondrocalcinosis 1

Expression for Chondrocalcinosis 1

Search GEO for disease gene expression data for Chondrocalcinosis 1.

Pathways for Chondrocalcinosis 1

GO Terms for Chondrocalcinosis 1

Sources for Chondrocalcinosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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