{"orpha":86820,"name":"Familial avascular necrosis of femoral head","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial osteonecrosis of the femoral head"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86820/","orphanet_url":"https://www.orpha.net/en/disease/detail/86820","names":{"fr":{"name":"Nécrose avasculaire familiale de la tête fémorale","synonyms":["Ostéonécrose familiale de la tête fémorale"],"definition":"La nécrose avasculaire de la tête fémorale (NATF) est une maladie grave et invalidante caractérisée par une douleur progressive au niveau de l'aine, une boiterie, des jambes de longueurs différentes, un tassement de l'os sous-chondral, une limitation aux mouvements de la hanche et une éventuelle dégénérescence de l'articulation de la hanche nécessitant une arthroplastie totale."},"de":{"name":"Avaskuläre Nekrose des Femurkopfes, familiäre Form","definition":"Die Avaskuläre Nekrose des Femurkopfes (ANFH) ist eine schwere invalidisierende Krankheit, gekennzeichnet durch zunehmende Schmerzen in den Leisten, Hinken, unterschiedlicher Beinlänge, Zusammenbruch des subchondralen Knochens, eingeschränkte Beweglichkeit in der Hüfte und schließlich Degeneration des Hüftgelenkes, die einen totalen Hüftgelenksersatz erfordert."},"es":{"name":"Necrosis avascular de la cabeza femoral, forma familiar","synonyms":["Osteonecrosis de la cabeza femoral, forma familiar"],"definition":"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."},"it":{"name":"Necrosi avascolare della testa femorale, forma familiare","synonyms":["Osteonecrosi della testa femorale, forma familiare"]},"nl":{"name":"Familiale avasculaire necrose van femurkop","synonyms":["Familiale osteonecrose van femurkop"],"definition":"Een ernstig invaliderende aandoening, gekenmerkt door progressieve pijn in de liesstreek, manke gang, ongelijke beenlengte, collaps van subchondraal bot, beperkte heupfunctie, en uiteindelijk degeneratie van heupgewricht die totale artroplastiek van heup vereist."},"pt":{"name":"Necrose avascular da cabeça do fémur, forma familiar","definition":"A necrose avascular da cabeça do fémur, forma familiar (ANFH), é uma doença grave, incapacitante, caracterizada por dor progressiva na virilha, marcha cambaleante, discrepância no comprimento da perna, colapso do osso subcondral, limitação da função da anca e eventual degeneração da articulação da anca requerendo artroplastia total da anca."},"pl":{"name":"Rodzinna awaskularna martwica głowy kości udowej","synonyms":["Familial osteonecrosis of the femoral head"]},"cs":{"name":"Familiární avaskulární nekróza hlavice femuru","synonyms":["Familiární osteonekróza hlavice femuru"]},"uk":{"name":"Сімейний аваскулярний некроз головки стегнової кістки","synonyms":["Сімейний остеонекроз головки стегнової кістки"],"definition":"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."},"zh":{"name":"家族性股骨头缺血性坏死","synonyms":["家族性股骨头坏死"]},"tr":{"name":"Femur başının ailesel avasküler nekrozu","synonyms":["Femur başının ailesel osteonekrozu"]}},"xrefs":[{"source":"OMIM","code":"608805","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617383","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1216860745"},{"source":"MONDO","code":"0012126","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275066","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10914","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399388,"name":"Avascular necrosis of genetic origin","classifications":[156]},{"orpha":399302,"name":"Primary avascular necrosis","classifications":[196,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"TRPV4","name":"transient receptor potential cation channel subfamily V member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27330106[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]},{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15930420[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"United States","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-07","source":"29750297[PMID]_15179599[PMID]_23041471[PMID]_27330106[PMID]_15930420[PMID]","terms":[{"hpo":"HP:0003366","label":"Abnormality of the femoral neck or head region","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031520","label":"Groin pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008843","label":"Hip osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030838","label":"Hip pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031058","label":"Impairment of activities of daily living","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007311","label":"Short stepped shuffling gait","frequency":"Frequent (79-30%)","criteria":null}]}}