{"Name":"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome","DiseaseID__c":"GARD:0000306","id":306,"encodedName":"camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome","Xref_IDs__c":"C1859690; C537560; DOID:0090127; MEDGEN:349226; MONDO:0008828; OMIM:208250; ORPHA:2848","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008828","Disease_Description__c":"A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.","GARD_Name__c":"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome","GARD_Synonym__c":"arthropathy camptodactyly syndrome; arthropathy-camptodactyly syndrome; cacp; cacp (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome; cacp syndrome; camptodactyly-arthropathy-coxa-vara-pericarditis syndrome; camptodactyly-arthropathy-pericarditis syndrome; camptodactyly, arthropathy, coxa-vara, pericarditis syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; fibrosing serositis, familial; jacobs syndrome; pac syndrome; pericarditis arthropathy camptodactyly syndrome; pericarditis-arthropathy-camptodactyly syndrome; pericarditis, arthropathy, camptodactyly syndrome","Curated_Disease_Description_Source__c":"GARD:0000306","Curated_Disease_Description__c":"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare condition which causes joint abnormalities. 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 genetic change 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 exam) and a biopsy of the fluid between the joints (synovial fluid). Genetic testing can confirm the diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:2848","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008828","ORPHANET_ID__c":"ORPHA:2848","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de camptodactilia-artropatía-coxa vara-pericarditis","Spanish_Description_Source__c":"ORPHA:2848","Spanish_Description__c":"Es una enfermedad reumatológica hereditaria, genética y poco frecuente, caracterizada por camptodactilia congénita o de inicio temprano, y artropatía, simétrica, poliarticular, no inflamatoria de las grandes articulaciones con hiperplasia sinovial, así como coxa vara progresiva y, ocasionalmente, pericarditis no inflamatoria.","Spanish_Disease_Name__c":"síndrome de camptodactilia-artropatía-coxa vara-pericarditis","Spanish_GARD_Synonym__c":"pericarditis-artropatía-camptodactilia; síndrome cacp; síndrome de artropatía-camptodactilia","Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare condition which causes joint abnormalities. 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 genetic change 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 exam) and a biopsy of the fluid between the joints (synovial fluid). Genetic testing can confirm the diagnosis.","Curated_Disease_Description_Source__c":"GARD:0000306","GARD_Synonym__c":"arthropathy camptodactyly syndrome; arthropathy-camptodactyly syndrome; cacp; cacp (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome; cacp syndrome; camptodactyly-arthropathy-coxa-vara-pericarditis syndrome; camptodactyly-arthropathy-pericarditis syndrome; camptodactyly, arthropathy, coxa-vara, pericarditis syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; fibrosing serositis, familial; jacobs syndrome; pac syndrome; pericarditis arthropathy camptodactyly syndrome; pericarditis-arthropathy-camptodactyly syndrome; pericarditis, arthropathy, camptodactyly syndrome","Name":"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CACP Research Foundation","Website__c":"https://www.cacpresearchfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2848"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2848"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2848"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859690"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000306","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/208250","Source__c":"C1859690; MONDO:0008828; ORPHA:2848","Xref__c":"OMIM:208250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349226","Source__c":"C1859690","Xref__c":"MEDGEN:349226"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537560","Source__c":"MONDO:0008828","Xref__c":"C537560"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090127","Source__c":"MONDO:0008828","Xref__c":"DOID:0090127"},{"URL__c":"https://www.orpha.net/en/disease/detail/2848","Source__c":"C1859690; MONDO:0008828; ORPHA:2848","Xref__c":"ORPHA:2848"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859690","Source__c":"C1859690","Xref__c":"C1859690"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771187008","Source__c":"C1859690","Xref__c":"771187008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008828","Source__c":"GARD:0000306","Xref__c":"MONDO:0008828"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRG4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the sac-like covering around the heart (pericardium).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001701","HPO_Synonym__c":"Swelling or irritation of membrane around heart","HPO_Name__c":"Pericarditis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001836","HPO_Synonym__c":"Camptodactyly of feet","HPO_Name__c":"Camptodactyly of toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033331","HPO_Name__c":"Acute phase response","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally flattened femoral head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008812","HPO_Synonym__c":"Flat head of thigh bone","HPO_Name__c":"Flattened femoral head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the pleura.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002102","HPO_Synonym__c":"Inflammation of tissues lining lungs and chest; Pleurisy","HPO_Name__c":"Pleuritis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment with infantile onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008610","HPO_Synonym__c":"Infantile sensorineural hearing loss","HPO_Name__c":"Infantile sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005086","HPO_Name__c":"Knee osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001225","HPO_Synonym__c":"Wrist swelling","HPO_Name__c":"Wrist swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005195","HPO_Name__c":"Polyarticular arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fluid filled cavity that develops with a bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012062","HPO_Synonym__c":"Bone cyst; Bone cysts","HPO_Name__c":"Bone cyst","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003940","HPO_Name__c":"Osteoarthritis of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100864","HPO_Synonym__c":"Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone","HPO_Name__c":"Short femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2848","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100018","HPO_Synonym__c":"Yellowish cloudy center of lens","HPO_Name__c":"Nuclear cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Pediatrics"]},"synonyms":["arthropathy camptodactyly syndrome"," arthropathy-camptodactyly syndrome"," cacp"," cacp (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome"," cacp syndrome"," camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"," camptodactyly-arthropathy-pericarditis syndrome"," camptodactyly, arthropathy, coxa-vara, pericarditis syndrome"," congenital familial hypertrophic synovitis"," familial fibrosing serositis"," fibrosing serositis, familial"," jacobs syndrome"," pac syndrome"," pericarditis arthropathy camptodactyly syndrome"," pericarditis-arthropathy-camptodactyly syndrome"," pericarditis, arthropathy, camptodactyly syndrome"]}