{"orpha":94090,"name":"Pseudohypoparathyroidism type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94090/","orphanet_url":"https://www.orpha.net/en/disease/detail/94090","names":{"fr":{"name":"Pseudohypoparathyroïdie type 2","definition":"Type de pseudohypoparathyroïdie (PHP 2) caractérisé par une résistance à l'hormone parathyroïdienne (PTH), se manifestant par une hypocalcémie, une hyperphosphatémie et par des taux élevés de PTH, en l'absence d'ostéodystrophie héréditaire d'Albright. L'expression de la protéine Gs et la réponse à la stimulation de l'AMPc urinaire sont normales."},"de":{"name":"Pseudohypoparathyreoidismus Typ 2"},"es":{"name":"Pseudohipoparatiroidismo tipo 2","definition":"El pseudohipoparatiroidismo tipo 2 (PHP-2) es un tipo de pseudohipoparatiroidismo (PHP, ver este término) caracterizado por resistencia a la hormona paratiroidea (PTH), que se manifiesta con hipocalcemia, hiperfosfatemia y niveles elevados de PTH, ausencia de osteodistrofia hereditaria de Albright (OHA; ver este término), y una expresión normal de la proteína Gs con una respuesta urinaria de AMPc normal al estímulo con PTH."},"it":{"name":"Pseudoipoparatiroidismo, tipo 2"},"nl":{"name":"Pseudohypoparathyreoïdie type 2","definition":"Pseudohypoparathyreoïdie type 2 (PHP2) is een type van pseudohypoparathyreoïdie (PHP; zie deze term) dat gekenmerkt wordt door resistentie tegen parathormoon (PTH), die zich manifesteert met hypocalciëmie, hyperfosfatemie en verhoogde PTH-niveaus, afwezigheid van Albright erfelijke osteodystrofie (AHO; zie deze term) en normale expressie van het Gs-proteïne met een normale urinaire cAMP-respons."},"pt":{"name":"Pseudohipoparatiroidismo tipo 2B"},"pl":{"name":"Rzekoma niedoczynność przytarczyc typu 2"},"cs":{"name":"Pseudohypoparatyreóza, typ 2"},"uk":{"name":"Псевдогіпопаратиреоз, тип 2","definition":"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response."},"zh":{"name":"假性甲状旁腺功能减退症2型","definition":"假性甲状旁腺机能减退症2型（PHP2）是一种假性甲状旁腺机能减退症（PHP；见该词条），其特征是对甲状旁腺激素（PTH）产生抵抗，表现为低钙血症、高磷血症和PTH水平升高，不伴Albright's遗传性骨营养不良症（AHO；见该词条），Gs蛋白正常表达，尿cAMP反应正常。"},"tr":{"name":"Psödohipoparatiroidizm tip 2"}},"xrefs":[{"source":"OMIM","code":"203330","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":"1650158822"},{"source":"MONDO","code":"0008749","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548077","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2932717","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10682","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":97593,"name":"Pseudohypoparathyroidism","classifications":[147,156,188,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"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":"2017-03-08","source":"24694489[PMID]_4370302[PMID]_4355058[PMID]_21816789[PMID]_2109828[PMID]_9506735[PMID]_10700702[PMID]_2848415[PMID]_10478236[PMID]_20610593[PMID]_20719837[PMID]_21525160[PMID]_24684469[PMID]_11834431[PMID]_24030943[PMID]_26160136[PMID]_8427051[PMID]_18650515[PMID]_18535072[PMID]_11067869[PMID]_4309802[PMID]","terms":[{"hpo":"HP:0000852","label":"Pseudohypoparathyroidism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011458","label":"Abdominal symptom","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003739","label":"Myoclonic spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003761","label":"Calcinosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003456","label":"Low urinary cyclic AMP response to PTH administration","frequency":"Excluded (0%)","criteria":null}]}}