{"Name":"Intestinal hypomagnesemia 1","DiseaseID__c":"GARD:0013072","id":13072,"encodedName":"intestinal-hypomagnesemia-1","IsDeleted":false,"Disease_Name_Full__c":"Intestinal hypomagnesemia 1","Xref_IDs__c":"190856003; C1865974; C566593; DOID:0060883; MEDGEN:355596; MONDO:0011176; OMIM:602014; ORPHA:30924","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":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011176","Disease_Description__c":"Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.","GARD_Name__c":"Intestinal hypomagnesemia 1","GARD_Synonym__c":"familial primary hypomagnesemia caused by mutation in trpm6; homg1; hsh; hypomagnesemia caused by selective magnesium malabsorption; hypomagnesemia intestinal type 1; hypomagnesemia with secondary hypocalcemia; hypomagnesemia, intestinal, with secondary hypocalcemia; hypomagnesemic tetany; intestinal hypomagnesemia type 1; intestinal hypomagnesemia with secondary hypocalcemia; phsh; primary hypomagnesemia caused by mutation in trpm6; primary hypomagnesemia with secondary hypocalcemia; trpm6 familial primary hypomagnesemia; trpm6 primary hypomagnesemia","Curated_Disease_Description_Source__c":"GARD:0013072","Curated_Disease_Description__c":"Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany (spasms of the hands and feet, cramps, spasm of the voice box (larynx), and overactive neurological reflexes), failure to thrive, restlessness, tremors, muscle spasms, and bluish skin around the mouth (perioral cyanosis). Abnormal heart rhythm (cardiac arrhythmia) may be observed. The low levels of magnesium result in low levels of parathyroid hormone (PTH) and in low levels of calcium in the bloods (hypocalcemia). It is caused by genetic changes in the TRPM6 gene. Inheritance is autosomal recessive.","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:30924","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011176","ORPHANET_ID__c":"ORPHA:30924","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipomagnesemia primaria con hipocalcemia secundaria","Spanish_Description_Source__c":"ORPHA:30924","Spanish_Description__c":"La hipomagnesemia primaria con hipocalcemia secundaria (PHSH) es una forma de hipomagnesemia primaria familiar (FPH, consulte este término), que se caracteriza por hipomagnesemia grave e hipocalcemia secundaria asociadas con síntomas neurológicos, que incluyen convulsiones generalizadas, tetania y espasmos musculares. La PHSH puede ser letal o puede dar lugar a complicaciones neurológicas crónicas irreversibles.","Spanish_Disease_Name__c":"hipomagnesemia primaria con hipocalcemia secundaria","Spanish_GARD_Synonym__c":"hipomagnesemia causada por malabsorción selectiva de magnesio; hipomagnesemia intestinal con hipocalcemia secundaria; hipomagnesemia intestinal tipo 1; homg1; hsh; phsh","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 hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany (spasms of the hands and feet, cramps, spasm of the voice box (larynx), and overactive neurological reflexes), failure to thrive, restlessness, tremors, muscle spasms, and bluish skin around the mouth (perioral cyanosis). Abnormal heart rhythm (cardiac arrhythmia) may be observed. The low levels of magnesium result in low levels of parathyroid hormone (PTH) and in low levels of calcium in the bloods (hypocalcemia). It is caused by genetic changes in the TRPM6 gene. Inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0013072","GARD_Synonym__c":"familial primary hypomagnesemia caused by mutation in trpm6; homg1; hsh; hypomagnesemia caused by selective magnesium malabsorption; hypomagnesemia intestinal type 1; hypomagnesemia with secondary hypocalcemia; hypomagnesemia, intestinal, with secondary hypocalcemia; hypomagnesemic tetany; intestinal hypomagnesemia type 1; intestinal hypomagnesemia with secondary hypocalcemia; phsh; primary hypomagnesemia caused by mutation in trpm6; primary hypomagnesemia with secondary hypocalcemia; trpm6 familial primary hypomagnesemia; trpm6 primary hypomagnesemia","Name":"Intestinal hypomagnesemia 1","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:30924"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:30924"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1865974"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013072","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060883","Source__c":"MONDO:0011176","Xref__c":"DOID:0060883"},{"URL__c":"https://www.orpha.net/en/disease/detail/30924","Source__c":"C1865974; MONDO:0011176; ORPHA:30924","Xref__c":"ORPHA:30924"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865974","Source__c":"C1865974","Xref__c":"C1865974"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355596","Source__c":"C1865974","Xref__c":"MEDGEN:355596"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=190856003","Source__c":"MONDO:0011176","Xref__c":"190856003"},{"URL__c":"https://www.omim.org/entry/602014","Source__c":"C1865974; MONDO:0011176; ORPHA:30924","Xref__c":"OMIM:602014"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566593","Source__c":"MONDO:0011176","Xref__c":"C566593"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711151004","Source__c":"C1865974","Xref__c":"711151004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011176","Source__c":"GARD:0013072","Xref__c":"MONDO:0011176"},{"URL__c":"https://medlineplus.gov/genetics/condition/hypomagnesemia-with-secondary-hypocalcemia"},{"URL__c":"https://medlineplus.gov/genetics/condition/hypomagnesemia-with-secondary-hypocalcemia","Source__c":"GARD:0013072","Xref__c":"https://medlineplus.gov/genetics/condition/hypomagnesemia-with-secondary-hypocalcemia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPM6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpm6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:602014","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:602014","HPO_Frequency__c":"Frequent (30-79%)","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:602014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002901","HPO_Synonym__c":"Hypocalcaemia; Low blood calcium levels","HPO_Name__c":"Hypocalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:602014","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602014","Feature__r":{"HPO_Description__c":"A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001281","HPO_Synonym__c":"Intermittent involuntary muscle spasm","HPO_Name__c":"Tetany","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["familial primary hypomagnesemia caused by mutation in trpm6"," homg1"," hsh"," hypomagnesemia caused by selective magnesium malabsorption"," hypomagnesemia intestinal type 1"," hypomagnesemia with secondary hypocalcemia"," hypomagnesemia, intestinal, with secondary hypocalcemia"," hypomagnesemic tetany"," intestinal hypomagnesemia type 1"," intestinal hypomagnesemia with secondary hypocalcemia"," phsh"," primary hypomagnesemia caused by mutation in trpm6"," primary hypomagnesemia with secondary hypocalcemia"," trpm6 familial primary hypomagnesemia"," trpm6 primary hypomagnesemia"]}