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 58 54 13
Chondrocalcinosis with Early-Onset Osteoarthritis 58 54 74
Ccal1 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (8q)


HPO:

33
chondrocalcinosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600668
MedGen 43 C1833499
UMLS 74 C1833499

Summaries for Chondrocalcinosis 1

MalaCards based summary : Chondrocalcinosis 1, also known as chondrocalcinosis with early-onset osteoarthritis, is related to chondrocalcinosis and perrault syndrome 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 : 77 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

Description 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 11.3
2 perrault syndrome 1 11.1

Symptoms & Phenotypes for Chondrocalcinosis 1

Human phenotypes related to Chondrocalcinosis 1:

33
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 33 HP:0002758
2 chondrocalcinosis 33 HP:0000934

Symptoms via clinical synopsis from OMIM:

58
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

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
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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