{"Name":"Familial hypocalciuric hypercalcemia 1","DiseaseID__c":"GARD:0002796","id":2796,"encodedName":"familial-hypocalciuric-hypercalcemia-1","IsDeleted":false,"Disease_Name_Full__c":"Familial hypocalciuric hypercalcemia 1","Xref_IDs__c":"704166007; C0342637; C537145; DOID:0060700; MEDGEN:137973; MONDO:0007791; OMIM:145980; ORPHA:93372","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007791","Disease_Description__c":"Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.","GARD_Name__c":"Familial hypocalciuric hypercalcemia 1","GARD_Synonym__c":"casr familial hypocalciuric hypercalcemia; familial benign hypercalcemia 1; familial hypocalciuric hypercalcemia caused by mutation in casr; familial hypocalciuric hypercalcemia type 1; familial hypocalciuric hypercalcemia type i; familial hypocalciuric hypercalcemia, type i; fhh type 1; hhc1; hpocalciuric hypercalcemia, type i; hypercalcemia, familial benign type 1; hypocalciuric hypercalcemia type i","Curated_Disease_Description_Source__c":"MONDO:0007791","Curated_Disease_Description__c":"Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:93372","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007791","ORPHANET_ID__c":"ORPHA:93372","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipercalcemia hipocalciúrica familiar tipo 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipercalcemia hipocalciúrica familiar tipo 1","Spanish_GARD_Synonym__c":"fhh tipo 1","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":"Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.","Curated_Disease_Description_Source__c":"MONDO:0007791","GARD_Synonym__c":"casr familial hypocalciuric hypercalcemia; familial benign hypercalcemia 1; familial hypocalciuric hypercalcemia caused by mutation in casr; familial hypocalciuric hypercalcemia type 1; familial hypocalciuric hypercalcemia type i; familial hypocalciuric hypercalcemia, type i; fhh type 1; hhc1; hpocalciuric hypercalcemia, type i; hypercalcemia, familial benign type 1; hypocalciuric hypercalcemia type i","Name":"Familial hypocalciuric hypercalcemia 1","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:93372"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002796","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342637","Source__c":"C0342637","Xref__c":"C0342637"},{"URL__c":"https://www.orpha.net/en/disease/detail/93372","Source__c":"C0342637; MONDO:0007791; ORPHA:93372","Xref__c":"ORPHA:93372"},{"URL__c":"https://www.omim.org/entry/145980","Source__c":"C0342637; MONDO:0007791; ORPHA:93372","Xref__c":"OMIM:145980"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537145","Source__c":"MONDO:0007791","Xref__c":"C537145"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=704166007","Source__c":"MONDO:0007791","Xref__c":"704166007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137973","Source__c":"C0342637","Xref__c":"MEDGEN:137973"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060700","Source__c":"MONDO:0007791","Xref__c":"DOID:0060700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007791","Source__c":"GARD:0002796","Xref__c":"MONDO:0007791"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CASR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/casr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:145980","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":"OMIM:145980","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003127","HPO_Synonym__c":"Low urine calcium levels","HPO_Name__c":"Hypocalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:145980","Feature__r":{"HPO_Description__c":"Excessive production of parathyroid hormone (PTH) by the parathyroid glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000843","HPO_Synonym__c":"Elevated blood parathyroid hormone level","HPO_Name__c":"Hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:145980","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased magnesium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002918","HPO_Synonym__c":"High blood magnesium levels; High blood Mg levels","HPO_Name__c":"Hypermagnesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:145980","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:145980","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:145980","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":"OMIM:145980","HPO_Frequency__c":"Uncommon (<1-4%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Endocrine","Orthopedics","Pediatrics"]},"synonyms":["casr familial hypocalciuric hypercalcemia"," familial benign hypercalcemia 1"," familial hypocalciuric hypercalcemia caused by mutation in casr"," familial hypocalciuric hypercalcemia type 1"," familial hypocalciuric hypercalcemia type i"," familial hypocalciuric hypercalcemia, type i"," fhh type 1"," hhc1"," hpocalciuric hypercalcemia, type i"," hypercalcemia, familial benign type 1"," hypocalciuric hypercalcemia type i"]}