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Familial articular chondrocalcinosis
2 OMIM references -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
Sea-blue histiocytosis
1 OMIM reference -
1 associated gene
12 signs/symptoms
Familial articular chondrocalcinosis
Sea-blue histiocytosis

ANKH
(UniProt - OMIM)
 APOE
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ANKH
(0.63)
APOE


Citations in the biomedical literature:


Familial articular chondrocalcinosis
ANKH
Sea-blue histiocytosis
APOE



Familial articular chondrocalcinosis
Sea-blue histiocytosis

Synonym(s):
- CPPD
- CPPDD
- Calcium pyrophosphate deposition disease
- Calcium pyrophosphate dihydrate crystal deposition disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Familial articular chondrocalcinosis
Sea-blue histiocytosis

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


Very frequent
- Blepharitis / eyelid inflammation
- Cutaneous edema
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Mediastinal / hilar adenopathies
- Purpura / petichiae
- Splenomegaly
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thrombocytopenia / thrombopenia

Frequent
- Lung / pulmonary infiltrates

Occasional
- Irregular / in bands / reticular skin hyperpigmentation
- Retinopathy