{"orpha":714477,"name":"Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714477/","orphanet_url":"https://www.orpha.net/en/disease/detail/714477","names":{"fr":{"name":"Syndrome inflammatoire de l'intestin précoce-lésions cutanées ulcéreuses-déficit immunitaire"},"de":{"name":"Früh einsetzende entzündliche Darmerkrankung-ulzerative Hautläsionen-Immundefekt-Syndrom","synonyms":["ANKZF1-assoziierte entzündliche Darmerkrankung mit Beginn im Kindesalter"]},"es":{"name":"Síndrome de enfermedad inflamatoria intestinal-lesiones cutáneas ulcerativas-inmunodeficiencia de inicio precoz"},"it":{"name":"Sindrome malattia infiammatoria dell’intestino ad esordio precoce-lesioni cutanee ulcerative-immunodeficienza"},"nl":{"name":"Vroeg optredende inflammatoire darmziekte - ulceratieve huidlaesies - immuundeficiëntie-syndroom"},"pt":{"name":"Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome"},"pl":{"name":"Zespół z nieswoistym zapaleniem jelit o wczesnym początku, wrzodziejącymi zmianami skórnymi i niedoborem odporności"},"cs":{"name":"Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome"}},"xrefs":[{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":169361,"name":"Immune dysregulation disease with immunodeficiency","classifications":[156,195]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"ANKZF1","name":"ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28302725[PMID]","hgnc":"25527","ensembl":"ENSG00000163516","omim":"617541","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28302725[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28302725[PMID]_ORPHANET"}],"phenotypes":null}