{"Name":"Pseudohypoparathyroidism type II","DiseaseID__c":"GARD:0010682","id":10682,"encodedName":"pseudohypoparathyroidism-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Pseudohypoparathyroidism type II","Xref_IDs__c":"42183005; C131132; C2932717; C548077; MEDGEN:444371; MONDO:0008749; OMIM:203330; ORPHA:94090","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008749","Disease_Description__c":"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.","GARD_Name__c":"Pseudohypoparathyroidism type II","GARD_Synonym__c":"php ii; php2; pseudohypoparathyroidism type 2","Curated_Disease_Description_Source__c":"MONDO:0008749","Curated_Disease_Description__c":"Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:94090","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008749","ORPHANET_ID__c":"ORPHA:94090","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudohipoparatiroidismo tipo 2","Spanish_Description_Source__c":"ORPHA:94090","Spanish_Description__c":"El pseudohipoparatiroidismo tipo 2 (PHP-2) es un tipo de pseudohipoparatiroidismo (PHP, ver este término) caracterizado por resistencia a la hormona paratiroidea (PTH), que se manifiesta con hipocalcemia, hiperfosfatemia y niveles elevados de PTH, ausencia de osteodistrofia hereditaria de Albright (OHA; ver este término), y una expresión normal de la proteína Gs con una respuesta urinaria de AMPc normal al estímulo con PTH.","Spanish_Disease_Name__c":"pseudohipoparatiroidismo tipo 2","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 type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.","Curated_Disease_Description_Source__c":"MONDO:0008749","GARD_Synonym__c":"php ii; php2; pseudohypoparathyroidism type 2","Name":"Pseudohypoparathyroidism type II","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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:94090"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C548077","Source__c":"MONDO:0008749","Xref__c":"C548077"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444371","Source__c":"C2932717","Xref__c":"MEDGEN:444371"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=42183005","Source__c":"C2932717; MONDO:0008749","Xref__c":"42183005"},{"URL__c":"https://www.orpha.net/en/disease/detail/94090","Source__c":"C2932717; MONDO:0008749; ORPHA:94090","Xref__c":"ORPHA:94090"},{"URL__c":"https://www.omim.org/entry/203330","Source__c":"C2932717; MONDO:0008749; ORPHA:94090","Xref__c":"OMIM:203330"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2932717","Source__c":"C2932717","Xref__c":"C2932717"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131132","Source__c":"C2932717","Xref__c":"C131132"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008749","Source__c":"GARD:0010682","Xref__c":"MONDO:0008749"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012049","HPO_Synonym__c":"Spasmodic dysphonia","HPO_Name__c":"Laryngeal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003739","HPO_Name__c":"Myoclonic spasms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increased concentration of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003165","HPO_Synonym__c":"Elevated circulating PTH level; Elevated serum parathyroid hormone; Elevated serum parathyroid hormone level; Elevated serum pth; Increased serum parathyroid hormone","HPO_Name__c":"Elevated circulating parathyroid hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003472","HPO_Name__c":"Hypocalcemic tetany","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003456","HPO_Name__c":"Low urinary cyclic AMP response to PTH administration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective manifestation of disease localized to the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011458","HPO_Name__c":"Abdominal symptom","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Formation of calcium deposits in any soft tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003761","HPO_Synonym__c":"Calcium buildup in soft tissues of body","HPO_Name__c":"Calcinosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002199","HPO_Synonym__c":"Low calcium seizures; Seizures due to hypocalcemia","HPO_Name__c":"Hypocalcemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000852","HPO_Name__c":"Pseudohypoparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002901","HPO_Synonym__c":"Hypocalcaemia; Low blood calcium levels","HPO_Name__c":"Hypocalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001657","HPO_Synonym__c":"Long QT syndrome; Prolong qt interval on ekg","HPO_Name__c":"Prolonged QT interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:94090","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002905","HPO_Synonym__c":"High blood phosphate levels","HPO_Name__c":"Hyperphosphatemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Endocrine","Pediatrics"],"Account":["Nephrology"]},"synonyms":["php ii"," php2"," pseudohypoparathyroidism type 2"]}