{"orpha":714493,"name":"Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital thrombocytopenia-recurrent infections syndrome due to WAS protein-interacting protein deficiency","Congenital thrombocytopenia-recurrent infections syndrome due to Wiskott-Aldrich syndrome protein-interacting protein deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714493/","orphanet_url":"https://www.orpha.net/en/disease/detail/714493","names":{"fr":{"name":"Syndrome de thrombocytopénie congénitale-infections récurrentes par déficit en WIP","synonyms":["Syndrome de thrombocytopénie congénitale-infections récurrentes dû à un déficit en protéine interagissant avec la protéine WAS","Syndrome de thrombocytopénie congénitale-infections récurrentes dû à un déficit en protéine interagissant avec la protéine du syndrome de Wiskott-Aldrich"]},"de":{"name":"Kongenitale Thrombozytopenie-rezidivierende Infektionen-Syndrom durch WIP-Defizienz","synonyms":["Angeborene Thrombozytopenie mit rezidivierenden Infektionen durch Mangel an WAS-Protein-interagierendem Protein"]},"es":{"name":"Síndrome de trombocitopenia congénita-infecciones recurrentes por deficiencia de WIP","synonyms":["Síndrome de trombocitopenia congénita-infecciones recurrentes por deficiencia de la proteína de interacción con WAS","Síndrome de trombocitopenia congénita-infecciones recurrentes por deficiencia de la proteína de interacción con la proteína del síndrome de Wiskott-Aldrich"]},"it":{"name":"Sindrome trombocitopenia congenita-infezioni ricorrenti da deficit di WIP","synonyms":["Sindrome trombocitopenia congenita-infezioni ricorrenti da deficit della proteina WAS interagente con la proteina","Sindrome trombocitopenia congenita-infezioni ricorrenti da deficit della proteina interagente con la proteina della sindrome di Wiskott-Aldrich"]},"nl":{"name":"Congenitale trombocytopenie - recidiverende infecties-syndroom door WIP-deficiëntie","synonyms":["Congenitale trombocytopenie - recidiverende infecties-syndroom door deficiëntie van WAS-proteïne-interagerend proteïne","Congenitale trombocytopenie - recidiverende infecties-syndroom door deficiëntie van Wiskott-Aldrich syndroom proteïne-interagerend proteïne"]},"pt":{"name":"Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency"},"pl":{"name":"Wrodzona małopłytkowość – zespół nawracających infekcji spowodowany niedoborem WIP","synonyms":["Congenital thrombocytopenia-recurrent infections syndrome due to WAS protein-interacting protein deficiency","Congenital thrombocytopenia-recurrent infections syndrome due to Wiskott-Aldrich syndrome protein-interacting protein deficiency"]},"cs":{"name":"Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency","synonyms":["Congenital thrombocytopenia-recurrent infections syndrome due to WAS protein-interacting protein deficiency","Congenital thrombocytopenia-recurrent infections syndrome due to Wiskott-Aldrich syndrome protein-interacting protein deficiency"]}},"xrefs":[{"source":"OMIM","code":"614493","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"WIPF1","name":"WAS/WASL interacting protein family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22231303[PMID]","hgnc":"12736","ensembl":"ENSG00000115935","omim":"602357","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"22231303[PMID]_27742395[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"22231303[PMID]_27742395[PMID]_ORPHANET"}],"phenotypes":null}