{"orpha":79443,"name":"Pseudohypoparathyroidism type 1A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AHO-PHP syndrome Ia","Albright hereditary osteodystrophy-PHP syndrome Ia"],"definition":"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79443/","orphanet_url":"https://www.orpha.net/en/disease/detail/79443","names":{"fr":{"name":"Pseudohypoparathyroïdie type 1A","synonyms":["OHA associée à PHP Ia","Ostéodystrophie héréditaire d'Albright associée à PHP Ia"],"definition":"Type de pseudohypoparathyroïdie (PHP) caractérisé par une résistance à l'action rénale de la parathormone (PTH), entraînant une hypocalcémie, une hyperphosphatémie et un taux de PTH élevé, par une résistance à d'autres hormones, notamment la thyréostimuline (TSH), les gonadotrophines et l'hormone de libération de l'hormone de croissance (GHRH), et par une constellation de signes cliniques connus sous le nom d'ostéodystrophie héréditaire d'Albright (OHA)."},"de":{"name":"Pseudohypoparathyreoidismus Typ 1A","synonyms":["AHO-PHP-Syndrom Ia","Albright'sche hereditäre Osteodystrophie-PHP-Syndrom Ia"]},"es":{"name":"Pseudohipoparatiroidismo tipo 1A","synonyms":["Síndrome AHO-PHP Ia","Síndrome de osteodistrofia hereditaria de Albright-PPHP Ia"],"definition":"El pseudohipoparatiroidismo tipo 1A (PHP-1a) es un tipo de pseudohipoparatiroidismo (PHP, consulte este término) caracterizado por resistencia renal a la hormona paratiroidea (PTH), que produce hipocalcemia, hiperfosfatemia y elevación de la PTH; resistencia a otras hormonas, incluida la hormona estimulante del tiroides (TSH), las gonadotropinas y la hormona liberadora de la hormona del crecimiento (GHRH); y una constelación de características clínicas conocidas como osteodistrofia hereditaria de Albright (OHA; consulte este término)."},"it":{"name":"Pseudoipoparatiroidismo tipo 1A","synonyms":["Sindrome AHO-PHP","Sindrome da osteodistrofia ereditaria di Albright - PHP"]},"nl":{"name":"Pseudohypoparathyreoïdie type 1A","synonyms":["AHO-PHP-syndroom Ia","Erfelijke osteodystrofie van Albright - PHP-syndroom Ia"],"definition":"Pseudohypoparathyreoïdie type 1A (PHP1a) is een type van pseudohypoparathyreoïdie (PHP; zie deze term) dat gekenmerkt wordt door renale resistentie tegen parathormoon (PTH), wat resulteert in hypocalciëmie, hyperfosfatemie en verhoogde PTH; resistentie tegen andere homonen inclusief thyreoïdstimulerend hormoon (TSH), gonadotropines en groeihormoon-releasing hormoon (GHRH); en een constellatie van klinische kenmerken bekend als Albright erfelijke osteodystrofie (AHO; zie deze term)."},"pt":{"name":"Pseudo-hipoparatiroidismo tipo 1A","synonyms":["Síndrome AHO-PHP Ia","Síndrome de osteodistrofia hereditária Albright-PHP Ia"]},"pl":{"name":"Rzekoma niedoczynność przytarczyc typu 1A","synonyms":["AHO - PHP Ia","Dzidziczna osteodystrofia Albrighta - PHP Ia"]},"cs":{"name":"Pseudohypoparatyreoidismus, typ 1A","synonyms":["AHO-PHP syndrom Ia","Albrightova dědičná osteodystrofie - PHP syndrom Ia"]},"uk":{"name":"Псевдогіпопаратиреоз, тип 1А","synonyms":["AHO-PHP синдром Ia","Спадкова остеодистрофія Олбрайта - PHP синдром Ia"],"definition":"Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term)."},"zh":{"name":"假性甲状旁腺功能减退症1A型","synonyms":["Albright遗传性骨营养不良- PPHP综合征Ia型"]},"tr":{"name":"Psödohipoparatiroidi tip 1A","synonyms":["AHO-PHP sendromu Ia","Albright kalıtsal osteodistrofi-PHP sendromu Ia"]}},"xrefs":[{"source":"OMIM","code":"103580","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":"1513156369"},{"source":"MONDO","code":"0007078","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3494506","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7486","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"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":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-06","source":"21816789[PMID]_2109828[PMID]_9506735[PMID]_10700702[PMID]_2848415[PMID]_20610593[PMID]_20719837[PMID]_21525160[PMID]_24684469[PMID]_11834431[PMID]_24030943[PMID]_26160136[PMID]_18650515[PMID]_18535072[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:0003456","label":"Low urinary cyclic AMP response to PTH administration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008227","label":"Pituitary resistance to thyroid hormone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002135","label":"Basal ganglia calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010027","label":"Broad 1st metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006960","label":"Choroid plexus calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011986","label":"Ectopic ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004704","label":"Short fifth metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011458","label":"Abdominal symptom","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011869","label":"Abnormal platelet function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000585","label":"Band keratopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009642","label":"Broad distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003761","label":"Calcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004438","label":"Hyperostosis frontalis interna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","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:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025027","label":"Osteoma cutis","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:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010041","label":"Short 3rd metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003528","label":"Elevated calcitonin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008202","label":"Reduced circulating prolactin concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}