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2 OMIM references -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Familial articular chondrocalcinosis
Familial isolated congenital asplenia

ANKH NKX2-5
RPSA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ANKH
(0.63)
RPSA



Citations in the biomedical literature:


Familial articular chondrocalcinosis
ANKH
Familial isolated congenital asplenia
NKX2-5 RPSA



Familial articular chondrocalcinosis
Familial isolated congenital asplenia

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 abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Familial articular chondrocalcinosis

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


Familial isolated congenital asplenia

(no data available)