intestinal disorder chronic diarrhea with villous atrophy https://www.malacards.org/card/diarrhea_chronic_with_villous_atrophy MEDGEN:325129 MONDO:0010786 OMIM:520100 MESH:C564019 Orphanet:1670 GARD:0016576 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. UMLS:C1838912 mitochondrial oxidative phosphorylation disorder