{"Name":"Familial hypocalciuric hypercalcemia 3","DiseaseID__c":"GARD:0002878","id":2878,"encodedName":"familial-hypocalciuric-hypercalcemia-3","IsDeleted":false,"Disease_Name_Full__c":"Familial hypocalciuric hypercalcemia 3","Xref_IDs__c":"C1833372; C537147; DOID:0060702; MEDGEN:322173; MONDO:0010926; OMIM:600740; ORPHA:101050","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010926","Disease_Description__c":"Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.","GARD_Name__c":"Familial hypocalciuric hypercalcemia 3","GARD_Synonym__c":"ap2s1 familial hypocalciuric hypercalcemia; familial benign hypercalcemia, type iii; familial hypocalciuric hypercalcemia caused by mutation in ap2s1; familial hypocalciuric hypercalcemia type 3; fhh type 3; hhc3; hpocalciuric hypercalcemia, type iii; hypercalcemia, familial benign, oklahoma type; hypocalciuric hypercalcemia type iii; hypocalciuric hypercalcemia, familial, type iii; hypocalciuric hypercalcemia, type iii","Curated_Disease_Description_Source__c":"GARD:0002878","Curated_Disease_Description__c":"Familial hypocalciuric hypercalcemia (FHH) type 3 is one of three recognized types of FHH, an inherited condition that causes abnormally high levels of calcium in the blood (hypercalcemia). FHH also causes high levels of parathyroid hormone (PTH) and low levels of calcium in the urine (hypocalciuria). In most cases, FHH does not cause signs or symptoms. However, some people with FHH do report symptoms. Signs and symptoms that may occur in some people with FHH type 3 include high magnesium in addition to calcium, general symptoms of hypercalcemia (such as weakness, fatigue, muscle pain, constipation, depression, confusion, and excessive thirst), lower bone mineral density, behavioral disorders, and learning disabilities. FHH type 3 is caused by a genetic change in the AP2S1 gene and inheritance is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101050","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010926","ORPHANET_ID__c":"ORPHA:101050","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipercalcemia hipocalciúrica familiar tipo 3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipercalcemia hipocalciúrica familiar tipo 3","Spanish_GARD_Synonym__c":"fhh tipo 3","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 hypocalciuric hypercalcemia (FHH) type 3 is one of three recognized types of FHH, an inherited condition that causes abnormally high levels of calcium in the blood (hypercalcemia). FHH also causes high levels of parathyroid hormone (PTH) and low levels of calcium in the urine (hypocalciuria). In most cases, FHH does not cause signs or symptoms. However, some people with FHH do report symptoms. Signs and symptoms that may occur in some people with FHH type 3 include high magnesium in addition to calcium, general symptoms of hypercalcemia (such as weakness, fatigue, muscle pain, constipation, depression, confusion, and excessive thirst), lower bone mineral density, behavioral disorders, and learning disabilities. FHH type 3 is caused by a genetic change in the AP2S1 gene and inheritance is autosomal dominant.","Curated_Disease_Description_Source__c":"GARD:0002878","GARD_Synonym__c":"ap2s1 familial hypocalciuric hypercalcemia; familial benign hypercalcemia, type iii; familial hypocalciuric hypercalcemia caused by mutation in ap2s1; familial hypocalciuric hypercalcemia type 3; fhh type 3; hhc3; hpocalciuric hypercalcemia, type iii; hypercalcemia, familial benign, oklahoma type; hypocalciuric hypercalcemia type iii; hypocalciuric hypercalcemia, familial, type iii; hypocalciuric hypercalcemia, type iii","Name":"Familial hypocalciuric hypercalcemia 3","estimateUsa":""}],"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1833372"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002878","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060702","Source__c":"MONDO:0010926","Xref__c":"DOID:0060702"},{"URL__c":"https://www.omim.org/entry/600740","Source__c":"C1833372; MONDO:0010926; ORPHA:101050","Xref__c":"OMIM:600740"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322173","Source__c":"C1833372","Xref__c":"MEDGEN:322173"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833372","Source__c":"C1833372","Xref__c":"C1833372"},{"URL__c":"https://www.orpha.net/en/disease/detail/101050","Source__c":"C1833372; MONDO:0010926; ORPHA:101050","Xref__c":"ORPHA:101050"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537147","Source__c":"MONDO:0010926","Xref__c":"C537147"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010926","Source__c":"GARD:0002878","Xref__c":"MONDO:0010926"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AP2S1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","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:600740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","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":"OMIM:600740","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":"OMIM:600740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the medulla of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008659","HPO_Name__c":"Multiple small medullary renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","Feature__r":{"HPO_Description__c":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002749","HPO_Synonym__c":"Softening of the bones","HPO_Name__c":"Osteomalacia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","Feature__r":{"HPO_Description__c":"An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003529","HPO_Synonym__c":"Parathormone-independent increased renal tubular Ca reabsorption; Parathormone-independent increased renal tubular Ca2+ reabsorption","HPO_Name__c":"Parathormone-independent increased renal tubular calcium reabsorption","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:600740","HPO_Frequency__c":"Occasional (5-29%)","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:600740","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:600740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004398","HPO_Synonym__c":"Sore in the lining of gastrointestinal tract","HPO_Name__c":"Peptic ulcer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","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:600740","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","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:600740","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":"OMIM:600740","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600740","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Endocrine","Orthopedics"]},"synonyms":["ap2s1 familial hypocalciuric hypercalcemia"," familial benign hypercalcemia, type iii"," familial hypocalciuric hypercalcemia caused by mutation in ap2s1"," familial hypocalciuric hypercalcemia type 3"," fhh type 3"," hhc3"," hpocalciuric hypercalcemia, type iii"," hypercalcemia, familial benign, oklahoma type"," hypocalciuric hypercalcemia type iii"," hypocalciuric hypercalcemia, familial, type iii"," hypocalciuric hypercalcemia, type iii"]}