{"Name":"Nodular regenerative hyperplasia of the liver","DiseaseID__c":"GARD:0010929","id":10929,"encodedName":"nodular-regenerative-hyperplasia-of-the-liver","IsDeleted":false,"Disease_Name_Full__c":"Nodular regenerative hyperplasia of the liver","Xref_IDs__c":"715140008; C5779783; MEDGEN:1830387; MONDO:0018835; ORPHA:48372","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018835","Disease_Description__c":"A form of portosinusoidal vascular disease characterized histologically by the absence of cirrhosis and diffuse benign transformation of the hepatic parenchyma into multiple small nodules (typically 1-3 mm).","GARD_Name__c":"Nodular regenerative hyperplasia of the liver","GARD_Synonym__c":"nodular regenerative hyperplasia of liver; nodular transformation of liver; non-cirrhotic nodulation; noncirrhotic nodulation; partial nodular transformation of liver","Curated_Disease_Description_Source__c":"GARD:0010929","Curated_Disease_Description__c":"Nodular regenerative hyperplasia (NRH) is a rare liver disease in which normal liver tissue transforms into multiple, small clusters (nodules) of replicating liver cells (regenerating hepatocytes). NRH often does not cause signs or symptoms (so is likely underdiagnosed), but in some people, it leads to a type of portal hypertension called non-cirrhotic portal hypertension (NCPH). NCPH refers to abnormally high blood pressure in the portal vein (the vein that carries blood from the intestine to the liver) that is not caused by cirrhosis (scarring of liver tissue that impairs its function). NCPH typically is less severe than portal hypertension caused by cirrhosis. Symptoms of portal hypertension may include fatigue, edema, itching, jaundice, and abdominal discomfort or swelling due to fluid build-up (ascites). Complications that may develop include bleeding esophageal varices and an enlarged and overactive spleen (hypersplenism). Liver function in most people with NRH remains normal (even in those who develop NCPH), and liver failure in people with NRH and NCPH is rare. The cause of NRH is not well-understood. It is thought that the liver's blood vessels somehow become damaged or inflamed, impairing blood flow to parts of the liver. This in turn may cause cells in adjacent parts to 'overcompensate' and replicate more than they should, leading to NRH. While some people with NRH have no known underlying health problems, NRH is often associated with rheumatic, autoimmune, hematologic (blood-related), and myeloproliferative disorders; chronic or recurrent infections; immune deficiency; or exposure to certain medications or toxins. NRH may be diagnosed based on signs and symptoms (when present), liver function tests (which usually are normal), medical history (including drug or toxin exposure), imaging studies, and liver biopsy (to rule out cirrhosis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:48372","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018835","ORPHANET_ID__c":"ORPHA:48372","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperplasia nodular regenerativa del hígado","Spanish_Description_Source__c":"ORPHA:48372","Spanish_Description__c":"Es una enfermedad hepática parenquimatosa poco frecuente caracterizada por una transformación benigna difusa del parénquima hepático en múltiples nódulos pequeños (compuestos de hepatocitos regenerativos). Por lo general, es asintomática, pero puede originar el desarrollo de hipertensión portal no cirrótica y sus complicaciones, que incluyen sangrado de varices esofágicas, hiperesplenismo y ascitis. A menudo se asocia a trastornos reumatológicos, autoinmunes, hematológicos y mieloproliferativos, así como a diversos estados de inmunodeficiencia y exposición a determinados fármacos y toxinas.","Spanish_Disease_Name__c":"hiperplasia nodular regenerativa del hígado","Spanish_GARD_Synonym__c":"nódulo no cirrótico","Category_Linearization__c":"ORPHA:57146","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":"Nodular regenerative hyperplasia (NRH) is a rare liver disease in which normal liver tissue transforms into multiple, small clusters (nodules) of replicating liver cells (regenerating hepatocytes). NRH often does not cause signs or symptoms (so is likely underdiagnosed), but in some people, it leads to a type of portal hypertension called non-cirrhotic portal hypertension (NCPH). NCPH refers to abnormally high blood pressure in the portal vein (the vein that carries blood from the intestine to the liver) that is not caused by cirrhosis (scarring of liver tissue that impairs its function). NCPH typically is less severe than portal hypertension caused by cirrhosis. Symptoms of portal hypertension may include fatigue, edema, itching, jaundice, and abdominal discomfort or swelling due to fluid build-up (ascites). Complications that may develop include bleeding esophageal varices and an enlarged and overactive spleen (hypersplenism). Liver function in most people with NRH remains normal (even in those who develop NCPH), and liver failure in people with NRH and NCPH is rare. The cause of NRH is not well-understood. It is thought that the liver's blood vessels somehow become damaged or inflamed, impairing blood flow to parts of the liver. This in turn may cause cells in adjacent parts to 'overcompensate' and replicate more than they should, leading to NRH. While some people with NRH have no known underlying health problems, NRH is often associated with rheumatic, autoimmune, hematologic (blood-related), and myeloproliferative disorders; chronic or recurrent infections; immune deficiency; or exposure to certain medications or toxins. NRH may be diagnosed based on signs and symptoms (when present), liver function tests (which usually are normal), medical history (including drug or toxin exposure), imaging studies, and liver biopsy (to rule out cirrhosis).","Curated_Disease_Description_Source__c":"GARD:0010929","GARD_Synonym__c":"nodular regenerative hyperplasia of liver; nodular transformation of liver; non-cirrhotic nodulation; noncirrhotic nodulation; partial nodular transformation of liver","Name":"Nodular regenerative hyperplasia of the liver","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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/"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:48372"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715140008","Source__c":"C5779783; MONDO:0018835","Xref__c":"715140008"},{"URL__c":"https://www.orpha.net/en/disease/detail/48372","Source__c":"C5779783; MONDO:0018835; ORPHA:48372","Xref__c":"ORPHA:48372"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830387","Source__c":"C5779783","Xref__c":"MEDGEN:1830387"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5779783","Source__c":"C5779783","Xref__c":"C5779783"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018835","Source__c":"GARD:0010929","Xref__c":"MONDO:0018835"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0011954","Source__c":"C5779783","Xref__c":"HP:0011954"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:48372","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hepatic vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006707","HPO_Synonym__c":"Abnormality of liver blood vessels; Abnormality of the liver vasculature","HPO_Name__c":"Abnormality of the hepatic vasculature","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48372","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology"]},"synonyms":["nodular regenerative hyperplasia of liver"," nodular transformation of liver"," non-cirrhotic nodulation"," noncirrhotic nodulation"," partial nodular transformation of liver"],"spanishId":13748,"spanishName":"hiperplasia-regenerativa-nodular"}