{"Name":"Chondrocalcinosis 2","DiseaseID__c":"GARD:0001292","id":1292,"encodedName":"chondrocalcinosis-2","IsDeleted":false,"Disease_Name_Full__c":"Chondrocalcinosis 2","Xref_IDs__c":"C0856830; C563162; MEDGEN:163633; MONDO:0007319; OMIM:118600; ORPHA:1416","USA_Estimate__c":null,"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":null,"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":1,"Description_Source__c":"MONDO:0007319","Disease_Description__c":"A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).","GARD_Name__c":"Chondrocalcinosis 2","GARD_Synonym__c":"calcium gout; calcium pyrophosphate arthropathy; calcium pyrophosphate dihydrate crystal deposition disease; chondrocalcinosis type 2; familial articular chondrocalcinosis; familial calcium pyrophosphate deposition; familial calcium pyrophosphate deposition disease; familial calcium pyrophosphate dihydrate deposition disease; familial cc; familial cppd; hereditary articular chondrocalcinosis; hereditary calcium pyrophosphate deposition; hereditary cc","Curated_Disease_Description_Source__c":"GARD:0001292","Curated_Disease_Description__c":"Familial calcium pyrophosphate deposition (or chondrocalcinosis 2) is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well as stiffness or swelling of the joints. Familial calcium pyrophosphate deposition is a familial form of chondrocalcinosis (also known as calcium pyrophosphate deposition disease or CPPD), which is caused by a similar buildup of CPP crystals but is associated with the aging process. Familial calcium pyrophosphate deposition is caused by changes in the ANKH gene. The disease is inherited in an autosomal dominant manner. Familial calcium pyrophosphate deposition is diagnosed based on imaging such as X-rays. The diagnosis can be confirmed with genetic testing of the ANKH gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:1416","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007319","ORPHANET_ID__c":"ORPHA:1416","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deposición familiar de pirofosfato cálcico","Spanish_Description_Source__c":"ORPHA:1416","Spanish_Description__c":"Es una enfermedad reumatológica hereditaria poco frecuente que provoca la calcificación del fibrocartílago articular o del cartílago hialino, proceso denominado condrocalcinosis (CC). A menudo se asocia con sinovitis aguda y osteoartritis (OA).","Spanish_Disease_Name__c":"deposición familiar de pirofosfato cálcico","Spanish_GARD_Synonym__c":null,"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":"Familial calcium pyrophosphate deposition (or chondrocalcinosis 2) is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well as stiffness or swelling of the joints. Familial calcium pyrophosphate deposition is a familial form of chondrocalcinosis (also known as calcium pyrophosphate deposition disease or CPPD), which is caused by a similar buildup of CPP crystals but is associated with the aging process. Familial calcium pyrophosphate deposition is caused by changes in the ANKH gene. The disease is inherited in an autosomal dominant manner. Familial calcium pyrophosphate deposition is diagnosed based on imaging such as X-rays. The diagnosis can be confirmed with genetic testing of the ANKH gene.","Curated_Disease_Description_Source__c":"GARD:0001292","GARD_Synonym__c":"calcium gout; calcium pyrophosphate arthropathy; calcium pyrophosphate dihydrate crystal deposition disease; chondrocalcinosis type 2; familial articular chondrocalcinosis; familial calcium pyrophosphate deposition; familial calcium pyrophosphate deposition disease; familial calcium pyrophosphate dihydrate deposition disease; familial cc; familial cppd; hereditary articular chondrocalcinosis; hereditary calcium pyrophosphate deposition; hereditary cc","Name":"Chondrocalcinosis 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthritis Foundation","Website__c":"https://www.arthritis.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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1416"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001292","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/118600","Source__c":"C0856830; MONDO:0007319; ORPHA:1416","Xref__c":"OMIM:118600"},{"URL__c":"https://www.orpha.net/en/disease/detail/1416","Source__c":"C0856830; MONDO:0007319","Xref__c":"ORPHA:1416"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=163633","Source__c":"C0856830","Xref__c":"MEDGEN:163633"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563162","Source__c":"MONDO:0007319","Xref__c":"C563162"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0856830","Source__c":"C0856830","Xref__c":"C0856830"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007319","Source__c":"GARD:0001292","Xref__c":"MONDO:0007319"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANKH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ankh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of joint mobility resulting from changes involving the articular surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031013","HPO_Name__c":"Ankylosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition in cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100593","HPO_Name__c":"Calcification of cartilage","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100769","HPO_Name__c":"Synovitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045082","HPO_Synonym__c":"Decreased BMI","HPO_Name__c":"Decreased body mass index","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000934","HPO_Synonym__c":"Calcium deposits in joints","HPO_Name__c":"Chondrocalcinosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the intervertebral disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005108","HPO_Synonym__c":"Abnormality of the intervertebral disk","HPO_Name__c":"Abnormal intervertebral disk morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement or malalignment of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001373","HPO_Synonym__c":"Joint dislocation; Joint dislocations","HPO_Name__c":"Joint dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A abnormal increase in the inflammatory response to injury or infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012649","HPO_Name__c":"Increased inflammatory response","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Orthopedics"]},"synonyms":["calcium gout"," calcium pyrophosphate arthropathy"," calcium pyrophosphate dihydrate crystal deposition disease"," chondrocalcinosis type 2"," familial articular chondrocalcinosis"," familial calcium pyrophosphate deposition"," familial calcium pyrophosphate deposition disease"," familial calcium pyrophosphate dihydrate deposition disease"," familial cc"," familial cppd"," hereditary articular chondrocalcinosis"," hereditary calcium pyrophosphate deposition"," hereditary cc"]}