{"Name":"Renal hypomagnesemia 5 with ocular involvement","DiseaseID__c":"GARD:0003451","id":3451,"encodedName":"renal-hypomagnesemia-5-with-ocular-involvement","IsDeleted":false,"Disease_Name_Full__c":"Renal hypomagnesemia 5 with ocular involvement","Xref_IDs__c":"C4721891; C536148; DOID:0060881; MEDGEN:1648449; MONDO:0009548; OMIM:248190; ORPHA:2196","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009548","Disease_Description__c":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.","GARD_Name__c":"Renal hypomagnesemia 5 with ocular involvement","GARD_Synonym__c":"bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; fhhnc with severe ocular involvement; fhhncoi; hypercalciuria-bilateral macular coloboma syndrome; hypomagnesemia 5, renal, with or without ocular involvement; hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement; hypomagnesemia, renal, with ocular involvement; macular coloboma, bilateral, with hypercalciuria; meier-blumberg-imahorn syndrome; primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement","Curated_Disease_Description_Source__c":"MONDO:0009548","Curated_Disease_Description__c":"Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2196","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009548","ORPHANET_ID__c":"ORPHA:2196","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipomagnesemia primaria con hipercalciuria y nefrocalcinosis con afectación ocular grave","Spanish_Description_Source__c":"ORPHA:2196","Spanish_Description__c":"La hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis con afectación ocular grave (FHHNCOI) es una forma de hipomagnesemia primaria familiar (FPH, consulte este término), caracterizada por la pérdida renal excesiva de magnesio y calcio, nefrocalcinosis bilateral, insuficiencia renal progresiva y anomalías oculares graves.","Spanish_Disease_Name__c":"hipomagnesemia primaria con hipercalciuria y nefrocalcinosis con afectación ocular grave","Spanish_GARD_Synonym__c":"fhhnc con afectación ocular grave; síndrome de hipercalciuria-coloboma macular bilateral; síndrome de meier-blumberg-imahorn","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 with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.","Curated_Disease_Description_Source__c":"MONDO:0009548","GARD_Synonym__c":"bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; fhhnc with severe ocular involvement; fhhncoi; hypercalciuria-bilateral macular coloboma syndrome; hypomagnesemia 5, renal, with or without ocular involvement; hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement; hypomagnesemia, renal, with ocular involvement; macular coloboma, bilateral, with hypercalciuria; meier-blumberg-imahorn syndrome; primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement","Name":"Renal hypomagnesemia 5 with ocular involvement","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2196"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003451","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4721891","Source__c":"C4721891","Xref__c":"C4721891"},{"URL__c":"https://www.omim.org/entry/248190","Source__c":"C4721891; MONDO:0009548; ORPHA:2196","Xref__c":"OMIM:248190"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648449","Source__c":"C4721891","Xref__c":"MEDGEN:1648449"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536148","Source__c":"MONDO:0009548","Xref__c":"C536148"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060881","Source__c":"MONDO:0009548","Xref__c":"DOID:0060881"},{"URL__c":"https://www.orpha.net/en/disease/detail/2196","Source__c":"C4721891; MONDO:0009548","Xref__c":"ORPHA:2196"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009548","Source__c":"GARD:0003451","Xref__c":"MONDO:0009548"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CLDN19","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of a region of the retina, retinal pigment epithelium, and choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000567","HPO_Synonym__c":"Birth defect that causes a hole in the innermost layer at the back of the eye; Choroidoretinal coloboma","HPO_Name__c":"Chorioretinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001116","HPO_Synonym__c":"Coloboma of the macula; Macular coloboma","HPO_Name__c":"Macular pseudocoloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100530","HPO_Synonym__c":"Abnormal Ca-PHOS regulating hormone level; Abnormal Ca2+ PO4 regulating hormone level","HPO_Name__c":"Abnormal circulating calcium-phosphate regulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2196","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Retinal","Pediatrics"],"Account":["Nephrology","Retinal"]},"synonyms":["bilateral macular coloboma with hypercalciuria"," familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement"," fhhnc with severe ocular involvement"," fhhncoi"," hypercalciuria-bilateral macular coloboma syndrome"," hypomagnesemia 5, renal, with or without ocular involvement"," hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement"," hypomagnesemia, renal, with ocular involvement"," macular coloboma, bilateral, with hypercalciuria"," meier-blumberg-imahorn syndrome"," primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"]}