{"Name":"Pseudohypoparathyroidism","DiseaseID__c":"GARD:0010758","id":10758,"encodedName":"pseudohypoparathyroidism","IsDeleted":false,"Disease_Name_Full__c":"Pseudohypoparathyroidism","Xref_IDs__c":"58976002; C0033806; C99027; D011547; DOID:4184; E20.1; HP:0000852; MEDGEN:46178; MONDO:0019992; ORPHA:97593","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019992","Disease_Description__c":"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).","GARD_Name__c":"Pseudohypoparathyroidism","GARD_Synonym__c":"constitutional chronic hypocalcemia; familial pseudohypoparathyroidism; parathyroid hormone resistant hypoparathyroidism; php1a","Curated_Disease_Description_Source__c":"GARD:0010758","Curated_Disease_Description__c":"Pseudohypoparathyroidism (PTH) is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. The symptoms of PTH are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). Symptoms may also include short stature, obesity, short fingers and toes, and intellectual disability. These symptoms are usually first seen in childhood. Diagnosis is based on the symptoms, clinical examination, laboratory tests, and may be confirmed by the results of genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:97593","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019992","ORPHANET_ID__c":"ORPHA:97593","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudohipoparatiroidismo","Spanish_Description_Source__c":"ORPHA:97593","Spanish_Description__c":"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).","Spanish_Disease_Name__c":"pseudohipoparatiroidismo","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Pseudohypoparathyroidism (PTH) is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. The symptoms of PTH are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). Symptoms may also include short stature, obesity, short fingers and toes, and intellectual disability. These symptoms are usually first seen in childhood. Diagnosis is based on the symptoms, clinical examination, laboratory tests, and may be confirmed by the results of genetic testing.","Curated_Disease_Description_Source__c":"GARD:0010758","GARD_Synonym__c":"constitutional chronic hypocalcemia; familial pseudohypoparathyroidism; parathyroid hormone resistant hypoparathyroidism; php1a","Name":"Pseudohypoparathyroidism","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Española de PHP","Website__c":"https://www.asociacionphp.com/"},{"Account_Name__c":"Federación de Ataxias de España","Website__c":"https://fedaes.org/"},{"Account_Name__c":"HypoPARAthyroidism Association, Inc.","Website__c":"https://hypopara.org/"},{"Account_Name__c":"Parathyroid UK","Website__c":"https://parathyroiduk.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:97593"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0033806"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99027","Source__c":"C0033806; MONDO:0019992","Xref__c":"C99027"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C011547","Source__c":"C0033806; MONDO:0019992","Xref__c":"D011547"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=58976002","Source__c":"C0033806; MONDO:0019992","Xref__c":"58976002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4184","Source__c":"MONDO:0019992","Xref__c":"DOID:4184"},{"URL__c":"https://www.orpha.net/en/disease/detail/97593","Source__c":"C0033806; MONDO:0019992; ORPHA:97593","Xref__c":"ORPHA:97593"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E20.1","Source__c":"MONDO:0019992","Xref__c":"E20.1"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=46178","Source__c":"C0033806","Xref__c":"MEDGEN:46178"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0033806","Source__c":"C0033806","Xref__c":"C0033806"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000852","Source__c":"C0033806","Xref__c":"HP:0000852"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019992","Source__c":"GARD:0010758","Xref__c":"MONDO:0019992"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Endocrine","Pediatrics"],"Account":["Nephrology"]},"synonyms":["constitutional chronic hypocalcemia"," familial pseudohypoparathyroidism"," parathyroid hormone resistant hypoparathyroidism"," php1a"],"spanishId":12498,"spanishName":"pseudohipoparatiroidismo"}