{"orpha":79445,"name":"Pseudopseudohypoparathyroidism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AHO-PPHP syndrome","Albright hereditary osteodystrophy-PPHP syndrome"],"definition":"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79445/","orphanet_url":"https://www.orpha.net/en/disease/detail/79445","names":{"fr":{"name":"Pseudopseudohypoparathyroïdie","synonyms":["OHA associée à PPHP","Ostéodystrophie héréditaire d'Albright associée à PPHP"],"definition":"Maladie caractérisée par une constellation de signes cliniques dénommés ostéodystrophie héréditaire d'Albright (OHA), en l'absence de preuve de résistance à l'hormone parathyroïdienne (PTH), présente dans d'autres formes de pseudohypoparathyroïdie (PHP)."},"de":{"name":"Pseudopseudohypoparathyreoidismus","synonyms":["AHO-PPHP-Syndrom","Albright'sche hereditäre Osteodystrophie-PPHP-Syndrom"]},"es":{"name":"Pseudopseudohipoparatiroidismo","synonyms":["Síndrome AHO-PPHP","Síndrome de osteodistrofia hereditaria de Albright-PPHP"],"definition":"El pseudopseudohipoparatiroidismo (pseudo-PHP) es una enfermedad caracterizada por una constelación de características clínicas denominadas colectivamente osteodistrofia hereditaria de Albright (OHA, consulte este término) pero sin evidencias de la resistencia a la hormona paratiroidea (PTH) que se observa en otras formas de pseudohipoparatiroidismo (PHP; ver este término)."},"it":{"name":"Pseudopseudoipoparatiroidismo","synonyms":["Sindrome AHO-PPHP","Sindrome osteodistrofia ereditaria di Albright - PPHP"]},"nl":{"name":"Pseudopseudohypoparathyreoïdie","synonyms":["AHO-PPHP-syndroom","Erfelijke osteodystrofie van Albright - PPHP-syndroom"],"definition":"Pseudopseudohypoparathyreoïdie (pseudo-PHP) is een ziekte die gekenmerkt wordt door een constellatie van klinische kenmerken die collectief Albright erfelijke osteodystrofie (AHO; zie deze term) genoemd worden, maar zonder bewijs van resistentie tegen parathormoon (PTH), wat wel waargenomen wordt in andere vormen van pseudohypoparathyreoïdie (PHP; zie deze term)."},"pt":{"name":"Pseudo-pseudo-hipoparatiroidismo","synonyms":["Síndrome AHO-PPHP","Síndrome de osteodistrofia hereditária Albright-PPHP"]},"pl":{"name":"Rzekomo rzekoma niedoczynność przytarczyc","synonyms":["AHO - PPHP"]},"cs":{"name":"Pseudopseudohypoparatyreoidismus","synonyms":["AHO-PPHP syndrom","Albrightova dědičná osteodystrofie - PPHP syndrom"]},"uk":{"name":"Псевдопсевдогіпопаратиреоз","synonyms":["AHO-PPHP синдром","Синдром спадкової остеодистрофії Олбрайта - PPHP синдром"],"definition":"Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term)."},"zh":{"name":"假性假甲状旁腺功能减退","synonyms":["Albright遗传性骨营养不良- PPHP综合征"]},"tr":{"name":"Psödopsödohipoparatiroidi","synonyms":["AHO-PPHP sendromu","Albright kalıtsal osteodistrofi-PPHP sendromu"]}},"xrefs":[{"source":"OMIM","code":"612463","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E20.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A50.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"245649135"},{"source":"MONDO","code":"0012912","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011556","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0033835","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]},{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":97593,"name":"Pseudohypoparathyroidism","classifications":[147,156,188,193]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"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":null,"hgnc":"4392","ensembl":"ENSG00000087460","omim":"139320","loci":["20q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-03","source":"27995443[PMID]_25484027[PMID]_30809832[PMID]_24651309[PMID]_29072892[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011986","label":"Ectopic ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025027","label":"Osteoma cutis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004180","label":"Short distal phalanx of the 3rd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009650","label":"Short distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Excluded (0%)","criteria":null}]}}