{"Name":"Primary hyperoxaluria, type II","DiseaseID__c":"GARD:0002836","id":2836,"encodedName":"primary-hyperoxaluria-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Primary hyperoxaluria, type II","Xref_IDs__c":"40951006; C0268165; C123213; C536415; DOID:0111671; MEDGEN:120616; MONDO:0009824; NBK2692; OMIM:260000; ORPHA:93599","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009824","Disease_Description__c":"Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.","GARD_Name__c":"Primary hyperoxaluria, type II","GARD_Synonym__c":"d-glycerate dehydrogenase deficiency; deficiency of glycerate dehydrogenase; deficiency of glyoxylate reductase; glycerate dehydrogenase deficiency; glyceric aciduria; glyceric dehydrogenase deficiency; glyoxylate reductase deficiency; glyoxylate reductase/hydroxypyruvate reductase deficiency; grhpr primary hyperoxaluria; hp2; l-glyceric aciduria; oxalosis ii; oxalosis type ii; primary hyperoxaluria caused by mutation in grhpr; primary hyperoxaluria type 2; primary hyperoxaluria type ii","Curated_Disease_Description_Source__c":"GARD:0002836","Curated_Disease_Description__c":"Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by genetic changes in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:93599","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009824","ORPHANET_ID__c":"ORPHA:93599","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperoxaluria primaria tipo 2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperoxaluria primaria tipo 2","Spanish_GARD_Synonym__c":"aciduria l-glicérica; deficiencia de d-glicerato deshidrogenasa","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":"Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by genetic changes in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0002836","GARD_Synonym__c":"d-glycerate dehydrogenase deficiency; deficiency of glycerate dehydrogenase; deficiency of glyoxylate reductase; glycerate dehydrogenase deficiency; glyceric aciduria; glyceric dehydrogenase deficiency; glyoxylate reductase deficiency; glyoxylate reductase/hydroxypyruvate reductase deficiency; grhpr primary hyperoxaluria; hp2; l-glyceric aciduria; oxalosis ii; oxalosis type ii; primary hyperoxaluria caused by mutation in grhpr; primary hyperoxaluria type 2; primary hyperoxaluria type ii","Name":"Primary hyperoxaluria, type II","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Oxalosis and Hyperoxaluria Foundation","Website__c":"https://www.ohf.org/"},{"Account_Name__c":"Kanishka Binayak Memorial Foundation","Website__c":"https://www.kanishkabinayaksaha.com/"}],"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:93599"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268165"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002836","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK2692","Source__c":"Gene Review","Xref__c":"NBK2692"},{"URL__c":"https://www.orpha.net/en/disease/detail/93599","Source__c":"C0268165; MONDO:0009824; ORPHA:93599","Xref__c":"ORPHA:93599"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111671","Source__c":"MONDO:0009824","Xref__c":"DOID:0111671"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123213","Source__c":"C0268165; MONDO:0009824","Xref__c":"C123213"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268165","Source__c":"C0268165","Xref__c":"C0268165"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120616","Source__c":"C0268165","Xref__c":"MEDGEN:120616"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536415","Source__c":"MONDO:0009824","Xref__c":"C536415"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40951006","Source__c":"C0268165; MONDO:0009824","Xref__c":"40951006"},{"URL__c":"https://www.omim.org/entry/260000","Source__c":"C0268165; MONDO:0009824; ORPHA:93599","Xref__c":"OMIM:260000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009824","Source__c":"GARD:0002836","Xref__c":"MONDO:0009824"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GRHPR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/grhpr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93599","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93599","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93599","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:93599","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93599","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased excretion of oxalates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003159","HPO_Synonym__c":"High urine oxalate levels; Increased level of oxalate in urine","HPO_Name__c":"Hyperoxaluria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:93599","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Obstruction of the flow of urine through the ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006000","HPO_Name__c":"Ureteral obstruction","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":["d-glycerate dehydrogenase deficiency"," deficiency of glycerate dehydrogenase"," deficiency of glyoxylate reductase"," glycerate dehydrogenase deficiency"," glyceric aciduria"," glyceric dehydrogenase deficiency"," glyoxylate reductase deficiency"," glyoxylate reductase/hydroxypyruvate reductase deficiency"," grhpr primary hyperoxaluria"," hp2"," l-glyceric aciduria"," oxalosis ii"," oxalosis type ii"," primary hyperoxaluria caused by mutation in grhpr"," primary hyperoxaluria type 2"," primary hyperoxaluria type ii"]}