MCID: CHN021
MIFTS: 15

Chondrocalcinosis 1

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Chondrocalcinosis 1

MalaCards integrated aliases for Chondrocalcinosis 1:

Name: Chondrocalcinosis 1 57 53 13
Chondrocalcinosis with Early-Onset Osteoarthritis 57 53 73
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 73 C1833499

Summaries for Chondrocalcinosis 1

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

Wikipedia : 76 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 11.2

Symptoms & Phenotypes for Chondrocalcinosis 1

Symptoms via clinical synopsis from OMIM:

57
Joints:
chondrocalcinosis
early-onset cpdd
severe degenerative osteoarthritis


Clinical features from OMIM:

600668

Human phenotypes related to Chondrocalcinosis 1:

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

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 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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