{"Name":"Atypical hemolytic-uremic syndrome","DiseaseID__c":"GARD:0008702","id":8702,"encodedName":"atypical-hemolytic-uremic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Atypical hemolytic-uremic syndrome","Xref_IDs__c":"C123223; C2931788; D065766; DOID:0080301; MEDGEN:444141; MONDO:0016244; ORPHA:2134","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","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:0016244","Disease_Description__c":"A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.","GARD_Name__c":"Atypical hemolytic-uremic syndrome","GARD_Synonym__c":"ahus; ahus - atypical hemolytic uremic syndrome; atypical hemolytic uremic syndrome; atypical hus; d-hus; hemolytic-uremic syndrome without diarrhea; hemolytic-uremic syndrome without diarrhoea; non-diarrhea-associated hemolytic uremic syndrome","Curated_Disease_Description_Source__c":"GARD:0008702","Curated_Disease_Description__c":"Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure. Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break apart as they squeeze past clots within small blood vessels. Anemia results if these cells are destroyed faster than the body can replace them. Anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Thrombocytopenia is a reduced level of circulating platelets, which are cells that normally assist with blood clotting. In people with atypical hemolytic-uremic syndrome, fewer platelets are available in the bloodstream because a large number of platelets are used to make abnormal clots. Thrombocytopenia can cause easy bruising and abnormal bleeding. As a result of clot formation in small blood vessels, people with atypical hemolytic-uremic syndrome experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of all cases. These life-threatening complications prevent the kidneys from filtering fluids and waste products from the body effectively. Atypical hemolytic-uremic syndrome should be distinguished from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, the typical form is caused by infection with certain strains of Escherichia coli bacteria that produce toxic substances called Shiga-like toxins. The typical form is characterized by severe diarrhea and most often affects children younger than 10. The typical form is less likely than the atypical form to involve recurrent attacks of kidney damage that lead to ESRD.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2134","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016244","ORPHANET_ID__c":"ORPHA:2134","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome hemolítico urémico atípico","Spanish_Description_Source__c":"ORPHA:2134","Spanish_Description__c":"Es una microangiopatía trombótica genética poco frecuente debida a la desregulación de la vía alternativa del complemento y caracterizada por la tríada de anemia hemolítica, trombocitopenia y disfunción renal aguda.","Spanish_Disease_Name__c":"síndrome hemolítico urémico atípico","Spanish_GARD_Synonym__c":"shua","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":"Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure. Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break apart as they squeeze past clots within small blood vessels. Anemia results if these cells are destroyed faster than the body can replace them. Anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Thrombocytopenia is a reduced level of circulating platelets, which are cells that normally assist with blood clotting. In people with atypical hemolytic-uremic syndrome, fewer platelets are available in the bloodstream because a large number of platelets are used to make abnormal clots. Thrombocytopenia can cause easy bruising and abnormal bleeding. As a result of clot formation in small blood vessels, people with atypical hemolytic-uremic syndrome experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of all cases. These life-threatening complications prevent the kidneys from filtering fluids and waste products from the body effectively. Atypical hemolytic-uremic syndrome should be distinguished from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, the typical form is caused by infection with certain strains of Escherichia coli bacteria that produce toxic substances called Shiga-like toxins. The typical form is characterized by severe diarrhea and most often affects children younger than 10. The typical form is less likely than the atypical form to involve recurrent attacks of kidney damage that lead to ESRD.","Curated_Disease_Description_Source__c":"GARD:0008702","GARD_Synonym__c":"ahus; ahus - atypical hemolytic uremic syndrome; atypical hemolytic uremic syndrome; atypical hus; d-hus; hemolytic-uremic syndrome without diarrhea; hemolytic-uremic syndrome without diarrhoea; non-diarrhea-associated hemolytic uremic syndrome","Name":"Atypical hemolytic-uremic syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Foundation for Children with Atypical HUS","Website__c":"https://www.ahusallianceaction.org"},{"Account_Name__c":"United States Thrombotic Microangiopathy Alliance (USTMA)","Website__c":"https://www.ustma.org/"},{"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/"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"aHUS Alliance","Website__c":"https://www.ahusallianceaction.org/"}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2134"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1367","Source__c":"Gene Review","Xref__c":"NBK1367"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080301","Source__c":"MONDO:0016244","Xref__c":"DOID:0080301"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931788","Source__c":"C2931788","Xref__c":"C2931788"},{"URL__c":"https://www.orpha.net/en/disease/detail/2134","Source__c":"C2931788; MONDO:0016244; ORPHA:2134","Xref__c":"ORPHA:2134"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C065766","Source__c":"C2931788; MONDO:0016244","Xref__c":"D065766"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123223","Source__c":"C2931788; MONDO:0016244","Xref__c":"C123223"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444141","Source__c":"C2931788","Xref__c":"MEDGEN:444141"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=789660001","Source__c":"C2931788","Xref__c":"789660001"},{"URL__c":"https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome","Source__c":"GARD:0008702","Xref__c":"https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016244","Source__c":"GARD:0008702","Xref__c":"MONDO:0016244"},{"URL__c":"https://www.fda.gov/media/175368/download?attachment"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001937","HPO_Name__c":"Microangiopathic hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040229","HPO_Name__c":"Decreased level of thrombomodulin","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component factor I in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005356","HPO_Synonym__c":"Decreased serum complement factor I","HPO_Name__c":"Decreased circulating complement factor I concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004431","HPO_Synonym__c":"Complement deficiency","HPO_Name__c":"Reduced circulating complement concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component factor B in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005416","HPO_Synonym__c":"Decreased serum complement factor B; Decreased serum factor b","HPO_Name__c":"Decreased circulating complement factor B concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hematopoietic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001871","HPO_Synonym__c":"Abnormality of blood and blood-forming tissues; Abnormality of the hematopoietic system; Hematological abnormality","HPO_Name__c":"Abnormality of blood and blood-forming tissues","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the complement system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005339","HPO_Name__c":"Abnormality of complement system","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2134","HPO_Frequency__c":"Very frequent (80-99%)","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:2134","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045040","HPO_Synonym__c":"Abnormal circulating LDH concentration; Abnormal lactate dehydrogenase level; Abnormal LDH level; AbnormalLDH level","HPO_Name__c":"Abnormal circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Hematology"],"Specialist":["Genetics","Nephrology","Hematology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["ahus"," ahus - atypical hemolytic uremic syndrome"," atypical hemolytic uremic syndrome"," atypical hus"," d-hus"," hemolytic-uremic syndrome without diarrhea"," hemolytic-uremic syndrome without diarrhoea"," non-diarrhea-associated hemolytic uremic syndrome"],"spanishId":13247,"spanishName":"sindrome-uremico-hemolitico-atipico"}