{"orpha":714490,"name":"PERCC1-related congenital intractable malabsorptive diarrhea","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714490/","orphanet_url":"https://www.orpha.net/en/disease/detail/714490","names":{"fr":{"name":"Diarrhée malabsorptive congénitale réfractaire associée à PERCC1"},"de":{"name":"PERCC1-assoziierte angeborene refraktäre Malabsorptionsdiarrhoe"},"es":{"name":"Diarrea malabsortiva congénita intratable asociada a PERCC1"},"it":{"name":"Diarrea con malassorbimento congenita non trattabile correlata a PERCC1"},"nl":{"name":"PERCC1-gerelateerde congenitale therapieresistente malabsorptieve diarree"},"pt":{"name":"PERCC1-related congenital intractable malabsorptive diarrhea"},"pl":{"name":"Wrodzona, niepodatna na leczenie biegunka z zespołem złego wchłaniania związana z PERCC1"},"cs":{"name":"PERCC1-related congenital intractable malabsorptive diarrhea"}},"xrefs":[{"source":"OMIM","code":"618662","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]},{"orpha":717851,"name":"Rare non-syndromic inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"PERCC1","name":"proline and glutamate rich with coiled coil 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36076104[PMID]_38710080[PMID]","hgnc":"52293","ensembl":"ENSG00000284395","omim":"618656","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}