{"Name":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis","DiseaseID__c":"GARD:0021254","id":21254,"encodedName":"familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis","IsDeleted":false,"Disease_Name_Full__c":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis","Xref_IDs__c":"1304111007; C5679977; MEDGEN:1843047; MONDO:0017624; ORPHA:306516","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:0017624","Disease_Description__c":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).","GARD_Name__c":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis","GARD_Synonym__c":"fhhnc; fhhnc - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis; michellis castrillo syndrome; michellis-castrillo syndrome; primary hypomagnesemia with hypercalciuria and nephrocalcinosis","Curated_Disease_Description_Source__c":"ORPHA:306516","Curated_Disease_Description__c":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:306516","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017624","ORPHANET_ID__c":"ORPHA:306516","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipomagnesemia primaria con hipercalciuria y nefrocalcinosis","Spanish_Description_Source__c":"ORPHA:306516","Spanish_Description__c":"La hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis (FHHNC) es una de las formas de hipomagnesemia primaria familiar (FPH, consulte este término), caracterizada por la pérdida renal de magnesio (Mg) y calcio (Ca), nefrocalcinosis, insuficiencia renal y, en algunos casos, deterioro ocular grave. Se han descrito dos subtipos de FHHNC: FHHNC con afectación ocular grave (FHHNCOI) y sin afectación ocular grave (FHHN) (consulte estos términos).","Spanish_Disease_Name__c":"hipomagnesemia primaria con hipercalciuria y nefrocalcinosis","Spanish_GARD_Synonym__c":"fhhnc; hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis; síndrome de michellis-castrillo","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":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).","Curated_Disease_Description_Source__c":"ORPHA:306516","GARD_Synonym__c":"fhhnc; fhhnc - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis; michellis castrillo syndrome; michellis-castrillo syndrome; primary hypomagnesemia with hypercalciuria and nephrocalcinosis","Name":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis","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":"Infancy","Provided_By__c":"ORPHA:306516"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:306516"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/306516","Source__c":"C5679977; MONDO:0017624; ORPHA:306516","Xref__c":"ORPHA:306516"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843047","Source__c":"C5679977","Xref__c":"MEDGEN:1843047"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679977","Source__c":"C5679977","Xref__c":"C5679977"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1304111007","Source__c":"C5679977","Xref__c":"1304111007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017624","Source__c":"GARD:0021254","Xref__c":"MONDO:0017624"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["fhhnc"," fhhnc - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis"," michellis castrillo syndrome"," michellis-castrillo syndrome"," primary hypomagnesemia with hypercalciuria and nephrocalcinosis"]}