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Familial articular chondrocalcinosis
2 OMIM references -
1 associated gene
5 connected diseases
13 signs/symptoms
Disease Type of connection
Craniometaphyseal dysplasia
Familial isolated congenital asplenia
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Sea-blue histiocytosis
Synonym(s):
- CPPD
- CPPDD
- Calcium pyrophosphate deposition disease
- Calcium pyrophosphate dihydrate crystal deposition disease
Classification (Orphanet):
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ANKH Q9HCJ1605145
Very frequent
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Autosomal dominant inheritance
- Calcification of cartilages / intraarticular calcification
- Hydrarthrosis / articular / joint effusion
- Intervertebral disk anomaly

Frequent
- Osteoarthritis

Occasional
- Joint dislocation / subluxation
- Joint / articular deformation
- Periarticular tissue anomaly / extraarticular calcifications
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tendon rupture / tendinitis / bursitis / tenosynovitis