{"orpha":2762,"name":"Progressive osseous heteroplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Familial ectopic ossification","POH"],"definition":"Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of <i>GNAS</i> gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2762/","orphanet_url":"https://www.orpha.net/en/disease/detail/2762","names":{"fr":{"name":"Hétéroplasie osseuse progressive","synonyms":["HOP","Ossification ectopique familiale"],"definition":"Maladie osseuse d'origine génétique rare caractérisée sur le plan clinique par une formation progressive d'os extrasquelettiques se manifestant au début de la vie par une ossification cutanée qui touche progressivement les tissus conjonctifs sous-cutanés, puis profonds, y compris les muscles et les fascias. L'hétéroplasie osseuse progressive (HOP) présente des similarités avec un certain nombre de maladies génétiques apparentées, notamment l'ostéodystrophie héréditaire d'Albright, les pseudohypoparathyroïdies et les ostéomes cannés primaires, dont le trait commun est une ossification hétérotopique superficielle associée à des mutations inactivant le gène <i>GNAS</i> (20q13.2-q13.3), codant pour des protéines de liaison aux nucléotides de guanine. Sur la plan clinique, la HOP se distingue toutefois par la nature profonde et progressive de la formation osseuse hétérotopique."},"de":{"name":"Heteroplasie, progressive ossäre","synonyms":["Knöcherne Heteroplasie, progressive","Ossifikation, ektopische, familiäre Form","POH"],"definition":"Die Progressive ossäre Heteroplasie (POH) ist eine seltene genetische Knochenerkrankung, die klinisch durch eine progressive extraskelettale Knochenbildung gekennzeichnet ist, die zunächst eine kutane Ossifikation aufweist und im fortgeschrittenen Stadium subkutanes und tiefes Bindegewebe einschließlich Muskeln und Faszien umfasst. POH überschneidet sich mit einer Reihe von verwandten genetischen Störungen einschließlich Albright-Osteodystrophie, Pseudohypoparathyroidismus (siehe diese Begriffe) und primären kutanen Osteomen, die ebenfalls mit einer oberflächlichen heterotopen Ossifikation in Verbindung mit inaktivierenden Mutationen des <i>GNAS</i> -Gens einhergehen (20q13.2-q13.3). Das <i>GNAS</i>-Gen kodiert für Guaninnukleotid-bindende Proteine. Klinisch kann die POH jedoch durch die tiefe und progressive Natur der heterotopen Knochenbildung von verwandten genetischen Erkrankungen abgegrenzt werden."},"es":{"name":"Heteroplasia ósea progresiva","synonyms":["HOP","Osificación ectópica familiar"],"definition":"Es un trastorno genético de los huesos muy poco frecuente caracterizado clínicamente por la formación progresiva de hueso extraesquelético. Suele presentarse a edades tempranas en forma de osificación cutánea, afectando progresivamente al tejido subcutáneo y al tejido conectivo profundo, comprometiendo músculos y fascias. La HOP se manifiesta en un número de trastornos genéticos relacionados entre los que se incluye la osteodistrofia hereditaria de Albright, el pseudohipoparatiroidismo y el osteoma cutis primario, que comparten las características comunes de la osificación heterotópica superficial en asociación con mutaciones inactivantes del gen <i>GNAS</i> (20q13.2-q13.3), que codifica las proteínas de unión del nucleótido de guanina. La HOP puede, sin embargo, distinguirse clínicamente por la profunda y progresiva naturaleza de la formación de hueso heterotópico."},"it":{"name":"Eteroplasia ossea progressiva","synonyms":["Ossificazione ectopica familiare","POH"],"definition":"L'eteroplasia ossea progressiva (POH) è una malattia genetica rara dell'osso, caratterizzata dalla formazione di osso in sede extra-scheletrica nelle prime fasi di vita, con ossificazione cutanea che interessa progressivamente i tessuti sottocutanei e, successivamente, i tessuti connettivi profondi, compresi i muscoli e le fasce. La POH si sovrappone a varie malattie genetiche correlate, tra le quali l'osteodistrofia ereditaria di Albright, lo pseudo-ipoparatiroidismo (si vedano questi termini), e l'osteoma cutaneo primitivo, che presentano gli stessi segni dell'ossificazione eterotopica superficiale, associati a mutazioni inattivanti del gene GNAS (20q13.2-q13.3), che codifica per proteine leganti il nucleotide guanina. Tuttavia, la POH può essere differenziata clinicamente in base alla localizzazione profonda e alla progressione della formazione ossea eterotopica."},"nl":{"name":"Progressieve ossale heteroplasie","synonyms":["Familiale ectopische ossificatie","POH"],"definition":"Progressieve ossale heteroplasie (POH) is een zeldzame genetische botstoornis die klinisch gekarakteriseerd wordt door progressieve extraskeletale botvorming op jonge leeftijd, met cutane ossificatie die progressief subcutaan en vervolgens diepliggend bindweefsel treft, inclusief spieren en fascie. POH overlapt met een aantal gerelateerde genetische aandoeningen, waaronder erfelijke osteodystrofie van Albright, pseudohypoparathyreoïdie (zie deze termen) en primaire osteoma cutis, die ook oppervlakkige heterotopische ossificatie geassocieerd met inactiverende mutaties in het gen <i>GNAS</i> (20q13.2-q13.3), dat codeert voor guaninenucleotide-bindende proteïnen, vertonen. POH kan echter klinisch onderscheiden worden door de diepliggende en progressieve aard van de heterotopische botvorming."},"pt":{"name":"Heteroplasia óssea progressiva","synonyms":["Ossificação ectópica familiar","POH"]},"pl":{"name":"Postępująca heteroplazja kostna","synonyms":["Rodzinne kostnienie ektopowe"],"definition":"Postępująca heteroplazja kostna (Progressive osseus heteroplasia – POH) to rzadka, genetyczna choroba kości charakteryzująca się postępującym tworzeniem się tkanki kostnej poza układem szkieletowym, które rozpoczyna się w skórze i postępuje obejmując tkankę podskórną, a następnie tkankę łączną, mięśnie i powięzi. Obraz kliniczny POH pokrywa się z innymi chorobami genetycznymi, do których należy dziedziczna osteodystrofia Albrighta, rzekoma niedoczynność przytarczyc (sprawdź te terminy), pierwotny kostniak skóry ze względu na powierzchowne kostnienie heterotopowe związane z dezaktywującymi mutacjami genu GNAS (20q13.2-q13.3), kodującym białka wiążące nukleotydy guaninowe. POH można klinicznie odróżnić na podstawie głęboko postępującego kostnienia heterotopowego."},"cs":{"name":"Progresivní kostní heteroplázie","synonyms":["Familiární ektopická osifikace","POH"]},"uk":{"name":"Прогресуюча кісткова гетероплазія","synonyms":["Сімейне ектопічеа окостеніння","POH"],"definition":"Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of <i>GNAS</i> gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation."},"zh":{"name":"进行性骨发育异常","synonyms":["家族性异位骨化"]},"tr":{"name":"İlerleyici kemik heteroplazi","synonyms":["POH","Ailesel ektopik kemikleşme"]}},"xrefs":[{"source":"OMIM","code":"166350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M61.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB31.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1107209347"},{"source":"MONDO","code":"0008153","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334041","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"109","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048902","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"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]}],"children":[],"genes":[{"symbol":"GNAS","name":"GNAS complex locus","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"14723729[PMID]_20427508[PMID]_17321228[PMID]","hgnc":"4392","ensembl":"ENSG00000087460","omim":"139320","loci":["20q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":78.0,"area":"Worldwide","status":"Validated","source":"25894639[PMID]_18553568[PMID]_12605446[PMID]_11092390[PMID]_10998448[PMID]_7671486[PMID]_3126297[PMID]_37003989[PMID]_32832452[PMID]_35035755[PMID]_36936194[PMID]_39678607[PMID]_36483469[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25894639[PMID]_18553568[PMID]_12605446[PMID]_11092390[PMID]_10998448[PMID]_7671486[PMID]_3126297[PMID]_37003989[PMID]_32832452[PMID]_35035755[PMID]_36936194[PMID]_39678607[PMID]_36483469[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011987","label":"Ectopic ossification in muscle tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000828","label":"Abnormality of the parathyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Occasional (29-5%)","criteria":null}]}}