{"orpha":94089,"name":"Pseudohypoparathyroidism type 1B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94089/","orphanet_url":"https://www.orpha.net/en/disease/detail/94089","names":{"fr":{"name":"Pseudohypoparathyroïdie type 1B","definition":"Type de pseudohypoparathyroïdie (PHP) caractérisé par une résistance localisée à l'hormone parathyroïdienne (PTH), concernant principalement les tissus rénaux, se manifestant par une hypocalcémie, une hyperphosphatémie et des taux élevés de PTH. En raison d'une résistance à la TSH, environ 60 à 70&nbsp;% des patients présentent également des taux élevés de TSH."},"de":{"name":"Pseudohypoparathyreoidismus Typ 1B"},"es":{"name":"Pseudohipoparatiroidismo tipo 1B","definition":"El pseudohipoparatiroidismo tipo 1B (PHP-1b) es un tipo de pseudohipoparatiroidismo (PHP, ver este término) caracterizado por resistencia localizada a la hormona paratiroidea (PTH), principalmente en los tejidos renales, que se manifiesta con hipocalcemia, hiperfosfatemia y niveles elevados de PTH. Aproximadamente el 60-70% de los afectados presenta, además, niveles elevados de TSH debido a la resistencia a esta hormona."},"it":{"name":"Pseudoipoparatiroidismo tipo 1B"},"nl":{"name":"Pseudohypoparathyreoïdie type 1B","definition":"Pseudohypoparathyreoïdie type 1B (PHP1b) is een type van pseudohypoparathyreoïdie (PHP; zie deze term) dat gekenmerkt wordt door gelokaliseerde resistentie tegen parathormoon (PTH), voornamelijk in de nierweefsels, die zich manifesteert met hypocalciëmie, hyperfosfatemie en verhoogde PTH-niveaus. Ongeveer 60-70% van de patiënten vertoont ook verhoogde TSH-niveaus als gevolg van TSH-resistentie."},"pt":{"name":"Pseudohipoparatiroidismo tipo 1B"},"pl":{"name":"Rzekoma niedoczynność przytarczyc typu 1B"},"cs":{"name":"Pseudohypoparatyreóza, typ 1B"},"uk":{"name":"Псевдогіпопаратиреоз, тип 1B","definition":"Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance."},"zh":{"name":"假性甲状旁腺功能减退症1B型","definition":"假性甲状旁腺机能减退症1B型（PHP-1B）是一种假性甲状旁腺机能减退症（PHP；见该词条），其特征是肾组织对甲状旁腺激素（PTH）产生局部耐药，表现为低钙血症、高磷血症和PTH水平升高。约60-70%的患者由于TSH抵抗而出现TSH水平升高。"},"tr":{"name":"Psödohipoparatiroidizm tip 1B"}},"xrefs":[{"source":"OMIM","code":"603233","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":"440485628"},{"source":"MONDO","code":"0011301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548075","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864100","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10680","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":97593,"name":"Pseudohypoparathyroidism","classifications":[147,156,188,193]}],"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"]},{"symbol":"STX16","name":"syntaxin 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11431","ensembl":"ENSG00000124222","omim":"603666","loci":["20q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","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":"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]","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:0000518","label":"Cataract","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:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","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:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003909","label":"Cortical subperiosteal resorption of humeral metaphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003034","label":"Diaphyseal sclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","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:0005700","label":"Increased bone density with cystic changes","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:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002199","label":"Hypocalcemic seizures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008227","label":"Pituitary resistance to thyroid hormone","frequency":"Very rare (<4-1%)","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}]}}