{"Name":"Familial avascular necrosis of the femoral head","DiseaseID__c":"GARD:0010914","id":10914,"encodedName":"familial-avascular-necrosis-of-the-femoral-head","IsDeleted":false,"Disease_Name_Full__c":"Familial avascular necrosis of the femoral head","Xref_IDs__c":"715657008; C4275066; D005271; MEDGEN:909851; MONDO:0012126; OMIMPS:608805; ORPHA:86820","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012126","Disease_Description__c":"Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.","GARD_Name__c":"Familial avascular necrosis of the femoral head","GARD_Synonym__c":"aseptic necrosis of femoral head; aseptic necrosis of head of femur; familial avascular necrosis of femoral head; familial avascular necrosis of head of femur; familial osteonecrosis of the femoral head","Curated_Disease_Description_Source__c":"GARD:0010914","Curated_Disease_Description__c":"Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to a disrupted blood supply and poor bone repair. It can lead to pain and limping, hip collapse, and cause the legs to be of unequal length. The development of ANFH is associated with steroid use, alcohol use, smoking, auto-immune disorders, and other medical conditions such as sickle cell anemia. Less commonly, ANFH can occur as the result of trauma to the hip, such as a hip fracture or hip surgery. Around 20,000-30,000 cases are reported each year in the United States. This condition mainly affects young, active adults, but can occur in children as well. In children, ANFH is known as Legg-Calves-Perthes disease. Most people with ANFH do not have a family history of this condition, but there are some very rare inherited forms of ANFH. ANFH is usually diagnosed by X-rays or an MRI.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:86820","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0012126","ORPHANET_ID__c":"ORPHA:86820","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Necrosis avascular de la cabeza femoral, forma familiar","Spanish_Description_Source__c":"ORPHA:86820","Spanish_Description__c":"La necrosis avascular de la cabeza femoral (ANFH, por sus siglas en inglés) es una enfermedad gravemente discapacitante caracterizada por dolor inguinal progresivo, cojera, discrepancia en la longitud de las piernas, colapso del hueso subcondral, limitación de la función de la cadera y degeneración final de la articulación de la cadera que requiere una artroplastia total de cadera.","Spanish_Disease_Name__c":"necrosis avascular de la cabeza femoral, forma familiar","Spanish_GARD_Synonym__c":"osteonecrosis de la cabeza femoral, forma familiar","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":"Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to a disrupted blood supply and poor bone repair. It can lead to pain and limping, hip collapse, and cause the legs to be of unequal length. The development of ANFH is associated with steroid use, alcohol use, smoking, auto-immune disorders, and other medical conditions such as sickle cell anemia. Less commonly, ANFH can occur as the result of trauma to the hip, such as a hip fracture or hip surgery. Around 20,000-30,000 cases are reported each year in the United States. This condition mainly affects young, active adults, but can occur in children as well. In children, ANFH is known as Legg-Calves-Perthes disease. Most people with ANFH do not have a family history of this condition, but there are some very rare inherited forms of ANFH. ANFH is usually diagnosed by X-rays or an MRI.","Curated_Disease_Description_Source__c":"GARD:0010914","GARD_Synonym__c":"aseptic necrosis of femoral head; aseptic necrosis of head of femur; familial avascular necrosis of femoral head; familial avascular necrosis of head of femur; familial osteonecrosis of the femoral head","Name":"Familial avascular necrosis of the femoral head","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:86820"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010914","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK540447","Source__c":"Gene Review","Xref__c":"NBK540447"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201366","Source__c":"Gene Review","Xref__c":"NBK201366"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005271","Source__c":"MONDO:0012126","Xref__c":"D005271"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715657008","Source__c":"C4275066; MONDO:0012126","Xref__c":"715657008"},{"URL__c":"https://www.orpha.net/en/disease/detail/86820","Source__c":"C4275066; MONDO:0012126; ORPHA:86820","Xref__c":"ORPHA:86820"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=909851","Source__c":"C4275066","Xref__c":"MEDGEN:909851"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS608805","Source__c":"MONDO:0012126","Xref__c":"OMIMPS:608805"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4275066","Source__c":"C4275066","Xref__c":"C4275066"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012126","Source__c":"GARD:0010914","Xref__c":"MONDO:0012126"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPV4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpv4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"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"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:86820","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031058","HPO_Name__c":"Impairment of activities of daily living","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86820","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007311","HPO_Synonym__c":"Short stepped shuffling walk","HPO_Name__c":"Short stepped shuffling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86820","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008800","HPO_Synonym__c":"Limited hip movement","HPO_Name__c":"Limited hip movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86820","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030838","HPO_Synonym__c":"Hip pain","HPO_Name__c":"Hip pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86820","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003366","HPO_Synonym__c":"Abnormal neck or head of thigh bone; Abnormality of the femoral neck or head region","HPO_Name__c":"Abnormal femoral neck/head morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86820","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008843","HPO_Synonym__c":"Osteoarthritis of hip","HPO_Name__c":"Hip osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86820","HPO_Frequency__c":"Frequent (30-79%)","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:86820","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A difference in length or diameter between the left and right leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100559","HPO_Synonym__c":"Left and right leg differ in length or width","HPO_Name__c":"Lower limb asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86820","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031520","HPO_Name__c":"Groin pain","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Orthopedics"]},"synonyms":["aseptic necrosis of femoral head"," aseptic necrosis of head of femur"," familial avascular necrosis of femoral head"," familial avascular necrosis of head of femur"," familial osteonecrosis of the femoral head"]}