CHONDROCALCINOSIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: CHONDROCALCINOSIS WITH EARLY-ONSET OSTEOARTHRITIS
CCAL1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 600668
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000934) Chondrocalcinosis 13 / 7739
2
(HPO:0002758) Osteoarthritis 78 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Severe degenerative osteoarthritis 1 / 7739
5
(OMIM) Early-onset CPDD 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baldwin et al. (1995) described a 6-generation New England family (family BU91) in which many members had early-onset CPPDD and severe degenerative osteoarthritis. Onset occurred between ages 25 and 40 years and males and females were equally affected. ...