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CACP
MCID: CMP012
MIFTS: 46
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Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP)
Categories:
Bone diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:
Characteristics:Orphanet epidemiological data:60
camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Prevalence: <1/1000000 (Worldwide); HPO:33
camptodactyly-arthropathy-coxa vara-pericarditis syndrome:
Inheritance autosomal recessive inheritance Classifications: |
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NIH Rare Diseases
:
54
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare condition which causes joint abnormalities that begin at birth or during early childhood. The name comes from the main symptoms, including permanent bending of the fingers (camptodactyly), joint disease (arthropathy), and changes in the hip joint resulting in shortened legs and a possible limp (coxa vara). Some people with CACP also have too many cells between their joints (synovial hyperplasia) and too much fluid around the heart (pericardial effusion) or lungs (pleural effusion).
Camptodactyly-arthyropathy-coxa vara-pericarditis syndrome is caused by a mutation in the PRG4 gene. This gene is responsible for making a protein that lubricates the joints.The condition is inherited in an autosomal recessive manner. CACP may be at first confused with juvenile idiopathic arthritis because the two diseases have similar symptoms.
Diagnosis is based on clinical findings (symptoms which the doctor notices on a physical exma) and a biopsy of the fluid between the joints (synovial fluid).Genetic testing can confirm the diagnosis. Treatment options such as physical therapy and pain medication focus on relieving symptoms of the disease. The medication for juvenile idiopathic arthritis is not helpful for those with CACP.
MalaCards based summary : Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome, also known as jacobs syndrome, is related to coxa vara and coxa vara, congenital. An important gene associated with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome is PRG4 (Proteoglycan 4), and among its related pathways/superpathways are Cardiac conduction and Cardiac muscle contraction. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes, and related phenotypes are arthritis and wrist flexion contracture Disease Ontology : 12 An autosomal recessive disease characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has material basis in homozygous mutation in the PRG4 gene on chromosome 1q31. OMIM : 58 The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000). (208250) UniProtKB/Swiss-Prot : 76 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions. Wikipedia : 77 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare genetic condition due to a mutation... more... |
Human phenotypes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:33 (show all 10)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:208250 |
Drugs for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: coxa vara |
MalaCards organs/tissues related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:42
Lung,
Heart,
Testes,
Brain,
Bone
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Articles related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:(show all 11)
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Genes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:6 (show all 14)
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Search
GEO
for disease gene expression data for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome.
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Cellular components related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome according to GeneCards Suite gene sharing:
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