CCAL1
MCID: CHN021
MIFTS: 16

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 53
Chondrocalcinosis with Early-Onset Osteoarthritis 57 53 13 72
Ccal1 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (8q)


HPO:

32
chondrocalcinosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600668
MedGen 42 C1833499
UMLS 72 C1833499

Summaries for Chondrocalcinosis 1

MalaCards based summary : Chondrocalcinosis 1, also known as chondrocalcinosis with early-onset osteoarthritis, is related to chondrocalcinosis 2 and obsolete: familial articular chondrocalcinosis type 1. 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 : 75 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 2 11.6
2 obsolete: familial articular chondrocalcinosis type 1 11.6
3 chondrocalcinosis 11.5
4 obsolete: familial articular chondrocalcinosis type 2 10.2

Symptoms & Phenotypes for Chondrocalcinosis 1

Human phenotypes related to Chondrocalcinosis 1:

32
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 32 HP:0002758
2 chondrocalcinosis 32 HP:0000934

Symptoms via clinical synopsis from OMIM:

57
Joints:
chondrocalcinosis
early-onset cpdd
severe degenerative osteoarthritis

Clinical features from OMIM:

600668

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. 8
7887424 1995
2
[GUEPAR total trapeziometacarpal prosthesis in the treatment of arthritis of the thumb. 36 case reports]. 38
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
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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