MCID: CHN013
MIFTS: 13

Chondrocalcinosis with Early-Onset Osteoarthritis

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Chondrocalcinosis with Early-Onset Osteoarthritis

MalaCards integrated aliases for Chondrocalcinosis with Early-Onset Osteoarthritis:

Name: Chondrocalcinosis with Early-Onset Osteoarthritis 54 50 69
Chondrocalcinosis 1 50 13
Ccal1 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant (8q)


HPO:

32
chondrocalcinosis with early-onset osteoarthritis:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chondrocalcinosis with Early-Onset Osteoarthritis

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

Wikipedia : 72 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

Description from OMIM: 600668

Related Diseases for Chondrocalcinosis with Early-Onset Osteoarthritis

Diseases related to Chondrocalcinosis with Early-Onset Osteoarthritis via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 chondrocalcinosis 11.0

Symptoms & Phenotypes for Chondrocalcinosis with Early-Onset Osteoarthritis

Symptoms via clinical synopsis from OMIM:

54

Joints:
chondrocalcinosis
early-onset cpdd
severe degenerative osteoarthritis


Clinical features from OMIM:

600668

Human phenotypes related to Chondrocalcinosis with Early-Onset Osteoarthritis:

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

Drugs & Therapeutics for Chondrocalcinosis with Early-Onset Osteoarthritis

Search Clinical Trials , NIH Clinical Center for Chondrocalcinosis with Early-Onset Osteoarthritis

Genetic Tests for Chondrocalcinosis with Early-Onset Osteoarthritis

Anatomical Context for Chondrocalcinosis with Early-Onset Osteoarthritis

Publications for Chondrocalcinosis with Early-Onset Osteoarthritis

Variations for Chondrocalcinosis with Early-Onset Osteoarthritis

Expression for Chondrocalcinosis with Early-Onset Osteoarthritis

Search GEO for disease gene expression data for Chondrocalcinosis with Early-Onset Osteoarthritis.

Pathways for Chondrocalcinosis with Early-Onset Osteoarthritis

GO Terms for Chondrocalcinosis with Early-Onset Osteoarthritis

Sources for Chondrocalcinosis with Early-Onset Osteoarthritis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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