{"orpha":79444,"name":"Pseudohypoparathyroidism type 1C","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79444/","orphanet_url":"https://www.orpha.net/en/disease/detail/79444","names":{"fr":{"name":"Pseudohypoparathyroïdie type 1C","definition":"Type rare de pseudohypoparathyroïdie (PHP) caractérisé par une résistance à l'hormone parathyroïdienne (PTH) et à d'autres hormones, qui se manifeste par une hypocalcémie, une hyperphosphatémie et des taux élevés de PTH, une constellation de signes cliniques dénommés ostéodystrophie héréditaire d'Albright (AHO), mais une activité normale de la protéine stimulante&nbsp;G (Gs alpha)."},"de":{"name":"Pseudohypoparathyreoidismus Typ 1C"},"es":{"name":"Pseudohipoparatiroidismo tipo 1C","definition":"El pseudohipoparatiroidismo tipo 1c (PHP-1c) es un tipo raro de pseudohipoparatiroidismo (PHP, consulte este término) caracterizado por resistencia a la hormona paratiroidea (PTH) y otras hormonas, que se manifiesta con hipocalcemia, hiperfosfatemia y niveles elevados de PTH y una constelación de características clínicas denominadas colectivamente osteodistrofia hereditaria de Albright (OHA, ver este término), pero que registra una actividad normal de la proteína estimuladora G (Gs alfa)."},"it":{"name":"Pseudoipoparatiroidismo tipo 1C"},"nl":{"name":"Pseudohypoparathyreoïdie type 1C","definition":"Pseudohypoparathyreoïdie type 1C (PHP1c) is een zeldzaam type van pseudohypoparathyreoïdie (PHP; zie deze term) dat gekenmerkt wordt door resistentie tegen parathormoon (PTH) en andere hormonen, dat zich manifesteert met hypocalciëmie, hyperfosfatemie en verhoogde PTH-niveaus, een constellatie van klinische kenmerken die collectief Albright erfelijke osteodystrofie (AHO; zie deze term) genoemd worden, maar normale activiteit van het stimulerend G-proteïne (Gs-alfa)."},"pt":{"name":"Pseudo-hipoparatiroidismo tipo 1C"},"pl":{"name":"Rzekoma niedoczynność przytarczyc typu 1C"},"cs":{"name":"Pseudohypoparatyreoidismus, typ 1C"},"uk":{"name":"Псевдогіпопаратиреоз, тип 1С","definition":"Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha)."},"zh":{"name":"假性甲状旁腺功能减退症1C型"},"tr":{"name":"Psödohipoparatiroidi tip 1C"}},"xrefs":[{"source":"OMIM","code":"612462","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":"1401673748"},{"source":"MONDO","code":"0012911","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548076","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2932716","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10681","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) 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":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-08","source":"21488135[PMID]_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]","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:0002135","label":"Basal ganglia calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","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: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: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: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:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011458","label":"Abdominal symptom","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","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: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:0003472","label":"Hypocalcemic tetany","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","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:0010041","label":"Short 3rd metacarpal","frequency":"Occasional (29-5%)","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}]}}