{"Name":"Familial isolated hyperparathyroidism","DiseaseID__c":"GARD:0016923","id":16923,"encodedName":"familial-isolated-hyperparathyroidism","IsDeleted":false,"Disease_Name_Full__c":"Familial isolated hyperparathyroidism","Xref_IDs__c":"786037006; C4551961; C94830; MEDGEN:1643161; MONDO:0015027; ORPHA:99879","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015027","Disease_Description__c":"A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.","GARD_Name__c":"Familial isolated hyperparathyroidism","GARD_Synonym__c":"fihp; fihpt; fihpt - familial isolated hyperparathyroidism","Curated_Disease_Description_Source__c":"ORPHA:99879","Curated_Disease_Description__c":"Familial isolated hyperparathyroidism is an inherited condition that is characterized by overactive parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck. They release a hormone called parathyroid hormone that regulates the amount of calcium in the blood.  In people with familial isolated hyperparathyroidism, too much parathyroid hormone is produced, and levels of calcium in the blood become elevated (hypercalcemia). Hypercalcemia causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), thinning of the bones (osteoporosis), weakness, and fatigue. Many people with familial isolated hyperparathyroidism have one or more noncancerous (benign) tumors called adenomas. Typically, only one of the four parathyroid glands is affected, but sometimes more than one gland has an adenoma. Rarely, the tumor can become cancerous; this is called parathyroid carcinoma. In some cases, familial isolated hyperparathyroidism may not be diagnosed until adulthood. Often, the first indication of the condition is elevated calcium levels that are identified during a routine blood test, even though the affected individual may not yet have signs or symptoms of hyperparathyroidism or hypercalcemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:99879","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015027","ORPHANET_ID__c":"ORPHA:99879","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperparatiroidismo aislado familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperparatiroidismo aislado familiar","Spanish_GARD_Synonym__c":"fihpt","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":"Familial isolated hyperparathyroidism is an inherited condition that is characterized by overactive parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck. They release a hormone called parathyroid hormone that regulates the amount of calcium in the blood.  In people with familial isolated hyperparathyroidism, too much parathyroid hormone is produced, and levels of calcium in the blood become elevated (hypercalcemia). Hypercalcemia causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), thinning of the bones (osteoporosis), weakness, and fatigue. Many people with familial isolated hyperparathyroidism have one or more noncancerous (benign) tumors called adenomas. Typically, only one of the four parathyroid glands is affected, but sometimes more than one gland has an adenoma. Rarely, the tumor can become cancerous; this is called parathyroid carcinoma. In some cases, familial isolated hyperparathyroidism may not be diagnosed until adulthood. Often, the first indication of the condition is elevated calcium levels that are identified during a routine blood test, even though the affected individual may not yet have signs or symptoms of hyperparathyroidism or hypercalcemia.","Curated_Disease_Description_Source__c":"ORPHA:99879","GARD_Synonym__c":"fihp; fihpt; fihpt - familial isolated hyperparathyroidism","Name":"Familial isolated hyperparathyroidism","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99879"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1643161","Source__c":"C4551961","Xref__c":"MEDGEN:1643161"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551961","Source__c":"C4551961","Xref__c":"C4551961"},{"URL__c":"https://www.orpha.net/en/disease/detail/99879","Source__c":"C4551961; MONDO:0015027; ORPHA:99879","Xref__c":"ORPHA:99879"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C94830","Source__c":"C4551961; MONDO:0015027","Xref__c":"C94830"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=786037006","Source__c":"C4551961","Xref__c":"786037006"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism","Source__c":"GARD:0016923","Xref__c":"https://medlineplus.gov/genetics/condition/familial-isolated-hyperparathyroidism"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015027","Source__c":"GARD:0016923","Xref__c":"MONDO:0015027"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GCM2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gcm2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CDC73","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdc73","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MEN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/men1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A benign tumor of the parathyroid gland that can cause hyperparathyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002897","HPO_Synonym__c":"Parathyroid adenomas","HPO_Name__c":"Parathyroid adenoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99879","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:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040160","HPO_Name__c":"Generalized osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008200","HPO_Name__c":"Primary hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000934","HPO_Synonym__c":"Calcium deposits in joints","HPO_Name__c":"Chondrocalcinosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99879","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:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased excretion of phosphates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003109","HPO_Synonym__c":"High urine phosphate levels; Phosphaturia","HPO_Name__c":"Hyperphosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"]},"synonyms":["fihp"," fihpt"," fihpt - familial isolated hyperparathyroidism"]}