{"Name":"Renal hypomagnesemia 6","DiseaseID__c":"GARD:0012155","id":12155,"encodedName":"renal-hypomagnesemia-6","IsDeleted":false,"Disease_Name_Full__c":"Renal hypomagnesemia 6","Xref_IDs__c":"C3151295; DOID:0060884; MEDGEN:462645; MONDO:0013480; OMIM:613882","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:34527","Disease_Description__c":"A form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.","GARD_Name__c":"Renal hypomagnesemia 6","GARD_Synonym__c":"homg6; renal hypomagnesemia type 6","Curated_Disease_Description_Source__c":"ORPHA:34527","Curated_Disease_Description__c":"This rare inherited electrolyte disease affects how the kidneys handle magnesium, a mineral that is important for nerve and muscle function. People with this disease have low magnesium levels in the blood, even though the amount of magnesium lost in the urine is not as high as expected for that level, indicating that the kidneys are not keeping the right balance. Typical symptoms include weakness in the arms and legs, dizziness or a spinning feeling (vertigo), headaches, and seizures. Many people also have very quick or brisk tendon reflexes when checked by a health professional. Some have mild to moderate psychomotor delay, meaning they may reach movement and coordination milestones, such as sitting or walking, later than other children.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013480","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare inherited electrolyte disease affects how the kidneys handle magnesium, a mineral that is important for nerve and muscle function. People with this disease have low magnesium levels in the blood, even though the amount of magnesium lost in the urine is not as high as expected for that level, indicating that the kidneys are not keeping the right balance. Typical symptoms include weakness in the arms and legs, dizziness or a spinning feeling (vertigo), headaches, and seizures. Many people also have very quick or brisk tendon reflexes when checked by a health professional. Some have mild to moderate psychomotor delay, meaning they may reach movement and coordination milestones, such as sitting or walking, later than other children.","Curated_Disease_Description_Source__c":"ORPHA:34527","GARD_Synonym__c":"homg6; renal hypomagnesemia type 6","Name":"Renal hypomagnesemia 6","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3151295"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151295","Source__c":"C3151295","Xref__c":"C3151295"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060884","Source__c":"MONDO:0013480","Xref__c":"DOID:0060884"},{"URL__c":"https://www.omim.org/entry/613882","Source__c":"C3151295; MONDO:0013480","Xref__c":"OMIM:613882"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462645","Source__c":"C3151295","Xref__c":"MEDGEN:462645"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013480","Source__c":"GARD:0012155","Xref__c":"MONDO:0013480"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CNNM2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613882","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":"OMIM:613882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613882","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:613882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613882","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased renal tubular reabsorption of magnesium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033759","HPO_Name__c":"Impaired renal tubular reabsorption of magnesium","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["homg6"," renal hypomagnesemia type 6"]}