Familial articular chondrocalcinosis

General Information (adopted from Orphanet):

Synonyms, Signs: CPPD
CPPDD
Calcium pyrophosphate dihydrate crystal deposition disease
Calcium pyrophosphate deposition disease
Number of Symptoms 14
OrphanetNr: 1416
OMIM Id: 118600
600668
ICD-10: M11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare rheumatologic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
2
 (HPO:0001373) Joint dislocation Occasional [Orphanet] 59 / 7739
3
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
4
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
5
 (HPO:0003040) Arthropathy 19 / 7739
6
 (HPO:0100593) Calcification of cartilage Very frequent [Orphanet] 4 / 7739
7
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
8
 (HPO:0005108) Abnormality of the intervertebral disk Very frequent [Orphanet] 12 / 7739
9
 (HPO:0005017) Polyarticular chondrocalcinosis 2 / 7739
10
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
11
 (HPO:0100550) Tendon rupture Occasional [Orphanet] 17 / 7739
12
 (HPO:0001367) Abnormal joint morphology Occasional [Orphanet] 53 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
 (HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: