{"Name":"Familial hypocalciuric hypercalcemia","DiseaseID__c":"GARD:0010828","id":10828,"encodedName":"familial-hypocalciuric-hypercalcemia","IsDeleted":false,"Disease_Name_Full__c":"Familial hypocalciuric hypercalcemia","Xref_IDs__c":"237885008; C123262; C1809471; DOID:0060699; MEDGEN:369200; MONDO:0018458; OMIMPS:145980; ORPHA:405","USA_Estimate__c":null,"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":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:0018458","Disease_Description__c":"Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.","GARD_Name__c":"Familial hypocalciuric hypercalcemia","GARD_Synonym__c":"familial benign hypercalcemia; familial benign hypocalciuric hypercalcemia; fbh; fbhh; fhh; fhh - familial hypocalciuric hypercalcemia","Curated_Disease_Description_Source__c":"GARD:0010828","Curated_Disease_Description__c":"Familial hypocalciuric hypercalcemia (FHH) is an inherited disorder that causes abnormally high levels of calcium in the blood (hypercalcemia) and low to moderate levels of calcium in urine (hypocalciuric). People with FHH usually do not have any symptoms and are often diagnosed by chance during routine bloodwork. Weakness, fatigue, issues with concentration, and excessive thirst (polydipsia) have been reported by some people with FHH. Rarely, people with this disorder experience inflammation of the pancreas (pancreatitis) or a buildup of calcium in the joints (chondrocalcinosis). FHH is mainly classified into three different types depending on the genetic cause. FHH type 1 is the most common type of FHH and is caused by changes (also known as pathogenic variantss) in the CASR gene. The protein made from the CaSR gene, the calcium-sensing receptor (CaSR protein), monitors and regulates the level of calcium in the blood. FHH type 2 is caused by changes in the GNA11 gene, and FHH type 3 is caused by changes in the AP2S1 gene. All three types of FHH are inherited in an autosomal dominant manner. In rare cases, FHH may be caused when a person's immune system mistakenly makes antibodies that attack the CaSR protein. The autoimmune form of FHH is not known to be caused by changes in a specific gene. Diagnosis of FHH is suspected by high levels of calcium in the blood, especially when there are no other symptoms present. Further blood and urine tests may be used to rule out other possible causes. Genetic testing can confirm the diagnosis of FHH, except in rare autoimmune cases.","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:405","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018458","ORPHANET_ID__c":"ORPHA:405","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipercalcemia hipocalciúrica familiar","Spanish_Description_Source__c":"ORPHA:405","Spanish_Description__c":"La hipercalcemia hipocalciúrica familiar (FHH) es un trastorno genético del metabolismo mineral, generalmente asintomático, que se caracteriza por una hipercalcemia moderada durante toda la vida junto con normo o hipocalciuria y una elevada concentración de hormona paratiroidea (PTH) en plasma.","Spanish_Disease_Name__c":"hipercalcemia hipocalciúrica familiar","Spanish_GARD_Synonym__c":"fbh; fbhh; fhh; hipercalcemia familiar benigna; hipercalcemia hipocalciúrica familiar benigna","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) is an inherited disorder that causes abnormally high levels of calcium in the blood (hypercalcemia) and low to moderate levels of calcium in urine (hypocalciuric). People with FHH usually do not have any symptoms and are often diagnosed by chance during routine bloodwork. Weakness, fatigue, issues with concentration, and excessive thirst (polydipsia) have been reported by some people with FHH. Rarely, people with this disorder experience inflammation of the pancreas (pancreatitis) or a buildup of calcium in the joints (chondrocalcinosis). FHH is mainly classified into three different types depending on the genetic cause. FHH type 1 is the most common type of FHH and is caused by changes (also known as pathogenic variantss) in the CASR gene. The protein made from the CaSR gene, the calcium-sensing receptor (CaSR protein), monitors and regulates the level of calcium in the blood. FHH type 2 is caused by changes in the GNA11 gene, and FHH type 3 is caused by changes in the AP2S1 gene. All three types of FHH are inherited in an autosomal dominant manner. In rare cases, FHH may be caused when a person's immune system mistakenly makes antibodies that attack the CaSR protein. The autoimmune form of FHH is not known to be caused by changes in a specific gene. Diagnosis of FHH is suspected by high levels of calcium in the blood, especially when there are no other symptoms present. Further blood and urine tests may be used to rule out other possible causes. Genetic testing can confirm the diagnosis of FHH, except in rare autoimmune cases.","Curated_Disease_Description_Source__c":"GARD:0010828","GARD_Synonym__c":"familial benign hypercalcemia; familial benign hypocalciuric hypercalcemia; fbh; fbhh; fhh; fhh - familial hypocalciuric hypercalcemia","Name":"Familial hypocalciuric hypercalcemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HypoPARAthyroidism Association, Inc.","Website__c":"https://hypopara.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":"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:405"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342637"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1809471"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/405","Source__c":"C1809471; MONDO:0018458; ORPHA:405","Xref__c":"ORPHA:405"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237885008","Source__c":"C1809471; MONDO:0018458","Xref__c":"237885008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1809471","Source__c":"C1809471","Xref__c":"C1809471"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS145980","Source__c":"MONDO:0018458","Xref__c":"OMIMPS:145980"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123262","Source__c":"C1809471; MONDO:0018458","Xref__c":"C123262"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060699","Source__c":"MONDO:0018458","Xref__c":"DOID:0060699"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=369200","Source__c":"C1809471","Xref__c":"MEDGEN:369200"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018458","Source__c":"GARD:0010828","Xref__c":"MONDO:0018458"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:405","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012032","HPO_Synonym__c":"Fatty lump; Noncancerous fatty lump","HPO_Name__c":"Lipoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:405","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":"ORPHA:405","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":"ORPHA:405","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:405","HPO_Frequency__c":"Excluded (0%)","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"}},{"Provided_By__c":"ORPHA:405","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":"ORPHA:405","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:405","HPO_Frequency__c":"Always (100%)","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":"ORPHA:405","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An decreased concentration of magnesium the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012609","HPO_Synonym__c":"Decreased urine magnesium; Low urine magnesium levels","HPO_Name__c":"Hypomagnesiuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:405","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:405","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008732","HPO_Name__c":"Renal hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:405","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:405","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An intermittent form of abdominal pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002574","HPO_Name__c":"Episodic abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:405","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:405","HPO_Frequency__c":"Occasional (5-29%)","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:405","HPO_Frequency__c":"Uncommon (<1-4%)","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:405","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:405","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003513","HPO_Synonym__c":"Reduced ration of kidney calcium clearance to creatinine clearance; Reduced ration of renal Ca clearance to creatinine clearance; Reduced ration of renal Ca2+ to creatinine clearance","HPO_Name__c":"Reduced ratio of renal calcium clearance to creatinine clearance","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:405","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:405","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Endocrine","Orthopedics","Pediatrics"]},"synonyms":["familial benign hypercalcemia"," familial benign hypocalciuric hypercalcemia"," fbh"," fbhh"," fhh"," fhh - familial hypocalciuric hypercalcemia"]}