{"orpha":337,"name":"Fibrodysplasia ossificans progressiva","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FOP","Myositis ossificans progressiva","Stone man syndrome"],"definition":"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-337/","orphanet_url":"https://www.orpha.net/en/disease/detail/337","names":{"fr":{"name":"Fibrodysplasie ossifiante progressive","synonyms":["FOP","Maladie de l'homme de pierre","Myosite ossifiante progressive"],"definition":"La fibrodysplasie ossifiante progressive (FOP) est une maladie héréditaire sévèrement invalidante du tissu conjonctif, caractérisée par des malformations congénitales des gros orteils et une ossification hétérotopique progressive formant de l'os qualitativement normal dans des tissus extrasquelettiques."},"de":{"name":"Fibrodysplasia ossificans progressiva","synonyms":["FOP","Myositis ossificans progressiva","Münchmeyer-Syndrom"],"definition":"Die Fibrodysplasia Ossificans Progressiva (FOP) ist eine schwere, invalidisierende erbliche Erkrankung des Bindegewebes und gekennzeichnet durch angeborene Fehlbildungen der großen Zehen und progressive heterotope Ossifizierung mit qualitativ normalem Knochen an charakteristischen Stellen außerhalb des Skeletts."},"es":{"name":"Fibrodisplasia osificante progresiva","synonyms":["Enfermedad del hombre de piedra","Miositis osificante progresiva"],"definition":"La fibrodisplasia osificante progresiva (FOP) es un trastorno hereditario del tejido conectivo, gravemente incapacitante, caracterizado por malformaciones congénitas en los dedos gordos de los pies y una osificación heterotópica progresiva que forma huesos cualitativamente normales en sitios extraesqueléticos característicos."},"it":{"name":"Fibrodisplasia ossificante progressiva","synonyms":["FOP","Malattia dell'uomo di pietra","Miosite ossificante progressiva"]},"nl":{"name":"Progressieve ossificerende fibrodysplasie","synonyms":["Fibrodysplasia ossificans progressiva (FOP)","Myositis ossificans progressiva","Stenen man syndroom"],"definition":"Progressieve ossificerende fibrodysplasie (FOP) is een ernstig invaliderende erfelijke bindweefselstoornis die wordt gekenmerkt door congenitale malformaties van de grote tenen en progressieve heterotope ossificatie die kwalitatief normaal bot vormt op karakteristieke extraskeletale locaties."},"pt":{"name":"Fibrodisplasia ossificante progressiva","synonyms":["FOP","Miosite ossificante progressiva"],"definition":"A fibrodisplasia ossificante progressiva (FOP) é &#8203;&#8203;uma doença hereditária do tecido conjuntivo gravemente incapacitante, caracterizada por malformações congénitas dos dedos grandes dos pés e ossificação heterotópica progressiva que forma osso qualitativamente normal em locais extraesqueléticos característicos."},"pl":{"name":"Postępujące kostniejące zapalenie mięśni","synonyms":["Człowiek z kamienia","FOP"],"definition":"Postępujące kostniejące zapalenie mięśni to dziedziczna choroba tkanki łącznej powodująca poważną niepełnosprawność, która charakteryzuje się wrodzonymi wadami rozwojowymi paluchów oraz postępującym heterotopowym kostnieniem, które tworzy jakościowo prawidłową kość w charakterystycznych miejscach pozaszkieletowych."},"cs":{"name":"Fibrodysplasia ossificans progressiva","synonyms":["FOP","Myositis ossificans progressiva","Nemoc zkamenělých lidí"]},"uk":{"name":"Прогресуюча фібродисплазія кісткової тканини","synonyms":["FOP","Прогресуючий міозит кісток","Синдром камяної людини"],"definition":"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites."},"zh":{"name":"进行性骨化性纤维发育不全","synonyms":["进行性骨化性肌炎"]},"tr":{"name":"Fibrodisplazi ossifikans progressiva","synonyms":["FOP","Taş adam sendromu","Miyozit ossificans progressiva"]}},"xrefs":[{"source":"OMIM","code":"135100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M61.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FB31.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2102976705"},{"source":"MONDO","code":"0007606","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009221","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016037","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6445","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":364531,"name":"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","classifications":[147,156,199]},{"orpha":280373,"name":"Rare pediatric systemic disease","classifications":[231]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[{"symbol":"ACVR1","name":"activin A receptor type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23011467[PMID]","hgnc":"171","ensembl":"ENSG00000115170","omim":"102576","loci":["2q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Worldwide","status":"Validated","source":"22133093[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.061,"area":"United Kingdom","status":"Validated","source":"7069743[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.087,"area":"Spain","status":"Validated","source":"22796417[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.036,"area":"Spain","status":"Validated","source":"22796417[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.078,"area":"Europe","status":"Validated","source":"ORPHANET_22796417[PMID]_28666455[PMID]_7069743[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.136,"area":"France","status":"Validated","source":"28666455[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.085,"area":"United States","status":"Validated","source":"34353327[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-29","source":"32525643[PMID]_29445932[PMID]","terms":[{"hpo":"HP:0011986","label":"Ectopic ossification","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001844","label":"Abnormal hallux morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010054","label":"Abnormality of the first metatarsal bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011989","label":"Ectopic ossification in ligament tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011987","label":"Ectopic ossification in muscle tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030431","label":"Osteochondroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003367","label":"Abnormal femoral neck morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010058","label":"Aplasia/Hypoplasia of the phalanges of the hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030838","label":"Hip pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030038","label":"Enchondroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100240","label":"Synostosis of joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}