{"Name":"Renal nutcracker syndrome","DiseaseID__c":"GARD:0011971","id":11971,"encodedName":"renal-nutcracker-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Renal nutcracker syndrome","Xref_IDs__c":"717267005; C3178770; D059228; MEDGEN:465238; MONDO:0019105; ORPHA:71273","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019105","Disease_Description__c":"A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.","GARD_Name__c":"Renal nutcracker syndrome","GARD_Synonym__c":"left renal vein (lrv) entrapment syndrome; left renal vein entrapment syndrome; mesoaortic compression of left renal vein; ncs - nutcracker syndrome; rns","Curated_Disease_Description_Source__c":"GARD:0011971","Curated_Disease_Description__c":"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. Signs and symptoms can vary from person to person. Some people may not have symptoms, while others develop severe and persistent symptoms. Symptoms may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. It is less clear why NCS occurs or causes symptoms in adults.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:71273","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019105","ORPHANET_ID__c":"ORPHA:71273","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome renal del cascanueces","Spanish_Description_Source__c":"ORPHA:71273","Spanish_Description__c":"Es una enfermedad renal sindrómica y poco frecuente caracterizada por el atrapamiento de la vena renal izquierda (VRI) entre la arteria mesentérica superior (AMS) y la aorta abdominal, resultando en un incremento de la presión luminal, varices a nivel del hilio renal, hematuria y, a nivel microscópico, ruptura de la delgada pared venosa al sistema colector en el fórnix renal.","Spanish_Disease_Name__c":"síndrome renal del cascanueces","Spanish_GARD_Synonym__c":null,"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":"Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. Signs and symptoms can vary from person to person. Some people may not have symptoms, while others develop severe and persistent symptoms. Symptoms may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. It is less clear why NCS occurs or causes symptoms in adults.","Curated_Disease_Description_Source__c":"GARD:0011971","GARD_Synonym__c":"left renal vein (lrv) entrapment syndrome; left renal vein entrapment syndrome; mesoaortic compression of left renal vein; ncs - nutcracker syndrome; rns","Name":"Renal nutcracker syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:71273"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=465238","Source__c":"C3178770","Xref__c":"MEDGEN:465238"},{"URL__c":"https://www.orpha.net/en/disease/detail/71273","Source__c":"C3178770; MONDO:0019105; ORPHA:71273","Xref__c":"ORPHA:71273"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717267005","Source__c":"C3178770; MONDO:0019105","Xref__c":"717267005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C059228","Source__c":"C3178770; MONDO:0019105","Xref__c":"D059228"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3178770","Source__c":"C3178770","Xref__c":"C3178770"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019105","Source__c":"GARD:0011971","Xref__c":"MONDO:0019105"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:71273","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:71273","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030157","HPO_Synonym__c":"Flank pain","HPO_Name__c":"Flank pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71273","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; 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Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71273","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology"],"Account":["Nephrology"]},"synonyms":["left renal vein (lrv) entrapment syndrome"," left renal vein entrapment syndrome"," mesoaortic compression of left renal vein"," ncs - nutcracker syndrome"," rns"],"spanishId":13285,"spanishName":"sindrome-renal-del-cascanueces"}