{"Name":"Isolated autosomal dominant hypomagnesemia, Glaudemans type","DiseaseID__c":"GARD:0020334","id":20334,"encodedName":"isolated-autosomal-dominant-hypomagnesemia-glaudemans-type","IsDeleted":false,"Disease_Name_Full__c":"Isolated autosomal dominant hypomagnesemia, Glaudemans type","Xref_IDs__c":"722008003; C4305155; MEDGEN:930824; MONDO:0016048; ORPHA:199326","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016048","Disease_Description__c":"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.","GARD_Name__c":"Isolated autosomal dominant hypomagnesemia, Glaudemans type","GARD_Synonym__c":"isolated autosomal dominant hypomagnesemia glaudemans type","Curated_Disease_Description_Source__c":"ORPHA:199326","Curated_Disease_Description__c":"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:199326","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016048","ORPHANET_ID__c":"ORPHA:199326","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipomagnesemia aislada autosómica dominante, tipo glaudemans","Spanish_Description_Source__c":"ORPHA:199326","Spanish_Description__c":"La hipomagnesemia aislada autosómica dominante, tipo Glaudemans (IADHG) es un tipo de hipomagnesemia primaria familiar (FPH, consulte este término), que se caracteriza por valores bajos de magnesio (Mg) en suero acompañados de valores normales de Mg en orina. Las manifestaciones clínicas típicas son calambres musculares recurrentes, episodios de tetania, temblores, y debilidad muscular, especialmente en las extremidades distales. Esta enfermedad es potencialmente letal.","Spanish_Disease_Name__c":"hipomagnesemia aislada autosómica dominante, tipo glaudemans","Spanish_GARD_Synonym__c":null,"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":"Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.","Curated_Disease_Description_Source__c":"ORPHA:199326","GARD_Synonym__c":"isolated autosomal dominant hypomagnesemia glaudemans type","Name":"Isolated autosomal dominant hypomagnesemia, Glaudemans type","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":"Neonatal","Provided_By__c":"ORPHA:199326"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:199326"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722008003","Source__c":"C4305155; MONDO:0016048","Xref__c":"722008003"},{"URL__c":"https://www.orpha.net/en/disease/detail/199326","Source__c":"C4305155; MONDO:0016048; ORPHA:199326","Xref__c":"ORPHA:199326"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305155","Source__c":"C4305155","Xref__c":"C4305155"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930824","Source__c":"C4305155","Xref__c":"MEDGEN:930824"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016048","Source__c":"GARD:0020334","Xref__c":"MONDO:0016048"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcna1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["isolated autosomal dominant hypomagnesemia glaudemans type"]}