{"Name":"Renal hypomagnesemia 2","DiseaseID__c":"GARD:0003350","id":3350,"encodedName":"renal-hypomagnesemia-2","IsDeleted":false,"Disease_Name_Full__c":"Renal hypomagnesemia 2","Xref_IDs__c":"725393000; C1835171; C537152; DOID:0060885; MEDGEN:320542; MONDO:0007937; OMIM:154020; ORPHA:34528","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007937","Disease_Description__c":"A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.","GARD_Name__c":"Renal hypomagnesemia 2","GARD_Synonym__c":"autosomal dominant primary hypomagnesemia with hypocalciuria; familial primary hypomagnesemia caused by mutation in fxyd2; fxyd2 familial primary hypomagnesemia; fxyd2 primary hypomagnesemia; homg2; homg2 - renal hypomagnesemia type 2; isolated autosomal dominant hypomagnesemia; isolated renal magnesium wasting; magnesium loss, isolated renal; primary hypomagnesemia caused by mutation in fxyd2; renal hypomagnesemia type 2","Curated_Disease_Description_Source__c":"MONDO:0007937","Curated_Disease_Description__c":"A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:34528","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007937","ORPHANET_ID__c":"ORPHA:34528","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipomagnesemia primaria autosómica dominante con hipocalciuria","Spanish_Description_Source__c":"ORPHA:34528","Spanish_Description__c":"Es una forma leve de hipomagnesemia primaria familiar (FPH), que se caracteriza por debilidad muscular extrema, tetania y convulsiones. Se observan alteraciones secundarias en la excreción de calcio.","Spanish_Disease_Name__c":"hipomagnesemia primaria autosómica dominante con hipocalciuria","Spanish_GARD_Synonym__c":"hipomagnesemia aislada autosómica dominante; hipomagnesemia renal tipo 2; homg2; pérdida renal de magnesio aislada","Category_Linearization__c":"ORPHA:93626","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":"A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.","Curated_Disease_Description_Source__c":"MONDO:0007937","GARD_Synonym__c":"autosomal dominant primary hypomagnesemia with hypocalciuria; familial primary hypomagnesemia caused by mutation in fxyd2; fxyd2 familial primary hypomagnesemia; fxyd2 primary hypomagnesemia; homg2; homg2 - renal hypomagnesemia type 2; isolated autosomal dominant hypomagnesemia; isolated renal magnesium wasting; magnesium loss, isolated renal; primary hypomagnesemia caused by mutation in fxyd2; renal hypomagnesemia type 2","Name":"Renal hypomagnesemia 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:34528"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1835171"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003350","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835171","Source__c":"C1835171","Xref__c":"C1835171"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725393000","Source__c":"C1835171; MONDO:0007937","Xref__c":"725393000"},{"URL__c":"https://www.orpha.net/en/disease/detail/34528","Source__c":"C1835171; MONDO:0007937; ORPHA:34528","Xref__c":"ORPHA:34528"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537152","Source__c":"MONDO:0007937","Xref__c":"C537152"},{"URL__c":"https://www.omim.org/entry/154020","Source__c":"C1835171; MONDO:0007937; ORPHA:34528","Xref__c":"OMIM:154020"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060885","Source__c":"MONDO:0007937","Xref__c":"DOID:0060885"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320542","Source__c":"C1835171","Xref__c":"MEDGEN:320542"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007937","Source__c":"GARD:0003350","Xref__c":"MONDO:0007937"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FXYD2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:154020","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased magnesium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002917","HPO_Synonym__c":"Low blood magnesium levels; Low blood Mg levels","HPO_Name__c":"Hypomagnesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:154020","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:154020","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:154020","HPO_Frequency__c":"Frequent (30-79%)","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:154020","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":"OMIM:154020","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:154020","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:154020","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"High urine magnesium in the presence of hypomagnesemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005567","HPO_Name__c":"Renal magnesium wasting","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["autosomal dominant primary hypomagnesemia with hypocalciuria"," familial primary hypomagnesemia caused by mutation in fxyd2"," fxyd2 familial primary hypomagnesemia"," fxyd2 primary hypomagnesemia"," homg2"," homg2 - renal hypomagnesemia type 2"," isolated autosomal dominant hypomagnesemia"," isolated renal magnesium wasting"," magnesium loss, isolated renal"," primary hypomagnesemia caused by mutation in fxyd2"," renal hypomagnesemia type 2"]}