{"Name":"Chronic diarrhea with villous atrophy","DiseaseID__c":"GARD:0016576","id":16576,"encodedName":"chronic-diarrhea-with-villous-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Chronic diarrhea with villous atrophy","Xref_IDs__c":"C1838912; C564019; MEDGEN:325129; MONDO:0010786; OMIM:520100; ORPHA:1670","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010786","Disease_Description__c":"Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.","GARD_Name__c":"Chronic diarrhea with villous atrophy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:1670","Curated_Disease_Description__c":"Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:1670","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010786","ORPHANET_ID__c":"ORPHA:1670","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diarrea crónica con atrofia villositaria","Spanish_Description_Source__c":"ORPHA:1670","Spanish_Description__c":"La diarrea crónica con atrofia villositaria es una enfermedad gastroenterológica genética rara caracterizada por la aparición temprana de diarrea crónica, vómitos, anorexia, acidosis láctica, insuficiencia renal y afectación hepática (leve elevación de las enzimas hepáticas, esteatosis, hepatomegalia). Se observa atrofia vellosa parcial (con infiltración eosinofílica) en la biopsia intestinal. Aunque la diarrea puede resolverse, el desarrollo de síntomas neurológicos (ataxia cerebelosa, sordera neurosensorial, convulsiones), retinosis pigmentaria y debilidad muscular pueden complicar el curso de la enfermedad y conducir a la muerte. No ha habido más descripciones en la literatura desde 1994.","Spanish_Disease_Name__c":"diarrea crónica con atrofia villositaria","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97935","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":"Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death.","Curated_Disease_Description_Source__c":"ORPHA:1670","Name":"Chronic diarrhea with villous atrophy","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":"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"},{"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1670"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325129","Source__c":"C1838912","Xref__c":"MEDGEN:325129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564019","Source__c":"MONDO:0010786","Xref__c":"C564019"},{"URL__c":"https://www.orpha.net/en/disease/detail/1670","Source__c":"C1838912; MONDO:0010786; ORPHA:1670","Xref__c":"ORPHA:1670"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838912","Source__c":"C1838912","Xref__c":"C1838912"},{"URL__c":"https://www.omim.org/entry/520100","Source__c":"C1838912; MONDO:0010786; ORPHA:1670","Xref__c":"OMIM:520100"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010786","Source__c":"GARD:0016576","Xref__c":"MONDO:0010786"}],"Inheritance__c":["Mitochondrial inheritance"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Gastroenterology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":[""]}