{"orpha":97593,"name":"Pseudohypoparathyroidism","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97593/","orphanet_url":"https://www.orpha.net/en/disease/detail/97593","names":{"fr":{"name":"Pseudo-hypoparathyroïdie","definition":"Groupe hétérogène de maladies endocriniennes rares caractérisées par une fonction rénale normale et une résistance à l'action de l'hormone parathyroïdienne (PTH), se manifestant par une hypocalcémie, une hyperphosphatémie et des taux élevés de PTH. Ce groupe comprend les sous-types PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) et la pseudopseudo-hypoparathyroïdie (PPHP)."},"de":{"name":"Pseudohypoparathyreoidismus"},"es":{"name":"Pseudohipoparatiroidismo","definition":"El pseudohipoparatiroidismo (PHP) es un grupo heterogéneo de trastornos endocrinos caracterizados por función renal normal y resistencia a la acción de la hormona paratiroidea (PTH), que se manifiesta con hipocalcemia, hiperfosfatemia y niveles elevados de PTH y que incluye los subtipos PHP tipo 1a (PHP-1a), PHP tipo 1b (PHP-1b), PHP tipo 1c (PHP-1c), PHP tipo 2 (PHP-2) y pseudopseudohipoparatiroidismo (PPHP) (ver estos términos)."},"it":{"name":"Pseudoipoparatiroidismo"},"nl":{"name":"Pseudohypoparathyreoïdie","definition":"Pseudohypoparathyreoïdie (PHP) is een heterogene groep endocriene aandoeningen die worden gekarakteriseerd door een normale nierfunctie en resistentie tegen de actie van parathyreoïdhormoon (PTH), en die zich manifesteren met hypocalciëmie, hyperfosfatemie en verhoogde PTH-gehaltes. De groep omvat de subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) en pseudopseudohypoparathyreoïdie (PPHP) (zie deze termen)."},"pt":{"name":"Pseudohipoparatiroidismo","definition":"O pseudo-hipoparatiroidismo (PHP) é um grupo heterogéneo de patologias endocrinológicas caracterizadas por função renal normal e resistência à ação da hormona paratiroideia (PTH), manifestando-se através de hipocalcémia, hiperfosfatemia e níveis elevados de PTH, e que inclui os subtipos PHP tipo 1a (PHP-1a), PHP tipo 1b (PHP-1b), PHP tipo 1c (PHP-1c), PHP tipo 2 (PHP-2) e pseudo-pseudo-hipoparatiroidismo (PPHP) (veja estes termos)."},"pl":{"name":"Rzekoma niedoczynność przytarczyc"},"cs":{"name":"Pseudohypoparatyreózy"},"uk":{"name":"Псевдогіпопаратиреоз","definition":"Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms)."},"zh":{"name":"假性甲状旁腺功能减退症","definition":"假性甲状旁腺功能减退症(PHP)是一组以肾功能正常和甲状旁腺激素(PTH)抵抗为特征的异质性内分泌疾病，表现为低钙血症、高磷血症和PTH水平升高，包括PHP1a亚型(PHP-1a)、PHP1b亚型(PHP-1b)、PHP1c亚型(PHP-1c)、PHP2型(PHP-2)和假性甲状旁腺功能低下（见该类词条）。"},"tr":{"name":"Psödohipoparatiroidi"}},"xrefs":[{"source":"ICD-10","code":"E20.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5A50.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1225154856"},{"source":"GARD","code":"10758","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":665,"name":"Albright hereditary osteodystrophy","status":"inactive"},{"type":"Referred to","orpha":457059,"name":"OBSOLETE: Pseudohypoparathyroidism with Albright hereditary osteodystrophy","status":"inactive"},{"type":"Referred to","orpha":457062,"name":"OBSOLETE: Pseudohypoparathyroidism without Albright hereditary osteodystrophy","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":208593,"name":"Genetic hypoparathyroidism","classifications":[156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":181405,"name":"Rare hypoparathyroidism","classifications":[193]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[{"orpha":79443,"name":"Pseudohypoparathyroidism type 1A","type":"Disease"},{"orpha":94089,"name":"Pseudohypoparathyroidism type 1B","type":"Disease"},{"orpha":79444,"name":"Pseudohypoparathyroidism type 1C","type":"Disease"},{"orpha":94090,"name":"Pseudohypoparathyroidism type 2","type":"Disease"},{"orpha":79445,"name":"Pseudopseudohypoparathyroidism","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Italy","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"Japan","status":"Validated","source":"10695258[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":null}