{"Name":"Legg-Calve-Perthes disease","DiseaseID__c":"GARD:0006874","id":6874,"encodedName":"legg-calve-perthes-disease","IsDeleted":false,"Disease_Name_Full__c":"Legg-Calve-Perthes disease","Xref_IDs__c":"15739006; C1442965; C34766; D007873; DOID:14415; MEDGEN:730669; MONDO:0007885; OMIM:150600; ORPHA:2380","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007885","Disease_Description__c":"A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.","GARD_Name__c":"Legg-Calve-Perthes disease","GARD_Synonym__c":"aseptic necrosis of capital femoral epiphysis; aseptic necrosis of the capital femoral epiphysis; avascular necrosis of capital femoral epiphysis; avascular necrosis of the capital femoral epiphysis; calve - perthes' disease; coxa plana; juvenile osteochond-hip/pelvis; juvenile osteochondrosis of hip and pelvis; juvenile osteochondrosis of hip and/or pelvis; legg calvé perthes disease; legg-calve-perthes symptom; legg-calve-perthes syndrome; legg-calvé-perthes disease; legg-perthes disease; morbus legg-calve-perthes; osteochondritis deformans; osteochondritis of the capital femoral epiphysis; osteochondrosis of legg-calve-perthes; osteochondrosis of the capital femoral epiphysis; osteochondrosis of the femoral head; osteonecrosis of capital femoral epiphysis; osteonecrosis of the femoral head; perthe's disease; perthes disease; perthes disease of hip; perthes-like femoral head changes; pseudocoxalgia","Curated_Disease_Description_Source__c":"GARD:0006874","Curated_Disease_Description__c":"Legg-Calve-Perthes disease (LCPD) occurs when blood supply to the ball of the thighbone in the hip (femoral head) is disrupted. Without an adequate blood supply, the bone cells die. Early symptoms may include limping; pain in the hip, thigh or knee; and reduced range of hip motion. Later in the disease course, there may be leg length discrepancy (one leg longer than the other) and wasting of the muscles around the hip. Some people with LCPD go on to develop degenerative arthritis in adulthood. The underlying cause of LCPD is often not known. Sometimes it results from a slipped capital femoral epiphysis, trauma, steroid use, sickle-cell crisis, toxic synovitis, or congenital hip dysplasia. It usually is not caused by genetic factors, but a few familial cases with autosomal dominant inheritance have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2380","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007885","ORPHANET_ID__c":"ORPHA:2380","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de legg-calvé-perthes","Spanish_Description_Source__c":"ORPHA:2380","Spanish_Description__c":"Es un trastorno poco frecuente caracterizado por necrosis avascular uni- o bilateral (NAV) de la cabeza femoral en los niños.","Spanish_Disease_Name__c":"enfermedad de legg-calvé-perthes","Spanish_GARD_Synonym__c":"enfermedad de perthes; necrosis aséptica de la epífisis capital femoral; osteocondrosis de la epífisis capital femoral","Category_Linearization__c":"ORPHA:93419","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":"Legg-Calve-Perthes disease (LCPD) occurs when blood supply to the ball of the thighbone in the hip (femoral head) is disrupted. Without an adequate blood supply, the bone cells die. Early symptoms may include limping; pain in the hip, thigh or knee; and reduced range of hip motion. Later in the disease course, there may be leg length discrepancy (one leg longer than the other) and wasting of the muscles around the hip. Some people with LCPD go on to develop degenerative arthritis in adulthood. The underlying cause of LCPD is often not known. Sometimes it results from a slipped capital femoral epiphysis, trauma, steroid use, sickle-cell crisis, toxic synovitis, or congenital hip dysplasia. It usually is not caused by genetic factors, but a few familial cases with autosomal dominant inheritance have been reported.","Curated_Disease_Description_Source__c":"GARD:0006874","GARD_Synonym__c":"aseptic necrosis of capital femoral epiphysis; aseptic necrosis of the capital femoral epiphysis; avascular necrosis of capital femoral epiphysis; avascular necrosis of the capital femoral epiphysis; calve - perthes' disease; coxa plana; juvenile osteochond-hip/pelvis; juvenile osteochondrosis of hip and pelvis; juvenile osteochondrosis of hip and/or pelvis; legg calvé perthes disease; legg-calve-perthes symptom; legg-calve-perthes syndrome; legg-calvé-perthes disease; legg-perthes disease; morbus legg-calve-perthes; osteochondritis deformans; osteochondritis of the capital femoral epiphysis; osteochondrosis of legg-calve-perthes; osteochondrosis of the capital femoral epiphysis; osteochondrosis of the femoral head; osteonecrosis of capital femoral epiphysis; osteonecrosis of the femoral head; perthe's disease; perthes disease; perthes disease of hip; perthes-like femoral head changes; pseudocoxalgia","Name":"Legg-Calve-Perthes disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthritis Foundation","Website__c":"https://www.arthritis.org"},{"Account_Name__c":"STEPS Worldwide","Website__c":"https://www.stepsworldwide.org/"},{"Account_Name__c":"Perthes Kids Foundation","Website__c":"https://www.pertheskids.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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2380"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0023234"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006874","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1442965","Source__c":"C1442965","Xref__c":"C1442965"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14415","Source__c":"MONDO:0007885","Xref__c":"DOID:14415"},{"URL__c":"https://www.omim.org/entry/150600","Source__c":"C1442965; MONDO:0007885; ORPHA:2380","Xref__c":"OMIM:150600"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34766","Source__c":"C1442965; MONDO:0007885","Xref__c":"C34766"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=730669","Source__c":"C1442965","Xref__c":"MEDGEN:730669"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007873","Source__c":"C1442965; MONDO:0007885","Xref__c":"D007873"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=15739006","Source__c":"MONDO:0007885","Xref__c":"15739006"},{"URL__c":"https://www.orpha.net/en/disease/detail/2380","Source__c":"C1442965; MONDO:0007885; ORPHA:2380","Xref__c":"ORPHA:2380"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005743","Source__c":"C1442965","Xref__c":"HP:0005743"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007885","Source__c":"GARD:0006874","Xref__c":"MONDO:0007885"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111255008","Source__c":"C1442965","Xref__c":"111255008"},{"URL__c":"https://medlineplus.gov/genetics/condition/legg-calve-perthes-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL2A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col2a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010885","HPO_Synonym__c":"Aseptic bone necrosis; Aseptic necrosis; Bone infarction; Death of bone due to decreased blood supply; Ischemic bone necrosis; Osteochondronecrosis; Osteonecrosis","HPO_Name__c":"Avascular necrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100773","HPO_Synonym__c":"Cartilage destruction","HPO_Name__c":"Cartilage destruction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2380","HPO_Frequency__c":"Very frequent (80-99%)","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:2380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2380","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:2380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"]},"synonyms":["aseptic necrosis of capital femoral epiphysis"," aseptic necrosis of the capital femoral epiphysis"," avascular necrosis of capital femoral epiphysis"," avascular necrosis of the capital femoral epiphysis"," calve - perthes' disease"," coxa plana"," juvenile osteochond-hip/pelvis"," juvenile osteochondrosis of hip and pelvis"," juvenile osteochondrosis of hip and/or pelvis"," legg calvé perthes disease"," legg-calve-perthes symptom"," legg-calve-perthes syndrome"," legg-calvé-perthes disease"," legg-perthes disease"," morbus legg-calve-perthes"," osteochondritis deformans"," osteochondritis of the capital femoral epiphysis"," osteochondrosis of legg-calve-perthes"," osteochondrosis of the capital femoral epiphysis"," osteochondrosis of the femoral head"," osteonecrosis of capital femoral epiphysis"," osteonecrosis of the femoral head"," perthe's disease"," perthes disease"," perthes disease of hip"," perthes-like femoral head changes"," pseudocoxalgia"]}