{"orpha":693647,"name":"Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Syndromic agammaglobulinemia due to FNIP1 deficiency","Syndromic hypogammaglobulinemia due to FNIP1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-693647/","orphanet_url":"https://www.orpha.net/en/disease/detail/693647","names":{"fr":{"name":"Syndrome d'agammaglobulinémie-cardiomyopathie hypertrophique à début précoce-neutropénie","synonyms":["Agammaglobulinémie syndromique par déficit en protéine FNIP1","Hypogammaglobulinémie syndromique par déficit en protéine FNIP1"]},"de":{"name":"Früh beginnende Agammaglobulinämie-hypertrophe Kardiomyopathie-Neutropenie-Syndrom","synonyms":["Syndromale Agammaglobulinämie durch FNIP1-Defizienz"]},"es":{"name":"Síndrome de agammaglobulinemia-miocardiopatía hipertrófica de inicio precoz-neutropenia","synonyms":["Hipogammaglobulinemia sindrómica por deficiencia de FNIP1"]},"it":{"name":"Sindrome agammaglobulinemia-cardiomiopatia ipertrofica ad esordio precoce-neutropenia","synonyms":["Agammaglobulinemia sindromica da deficit di FNIP1","Ipogammaglobulinemia sindromica da deficit di FNIP1"]},"nl":{"name":"Agammaglobulinemie - vroeg optredende hypertrofische cardiomyopathie - neutropenie-syndroom","synonyms":["Syndromale agammaglobulinemie door FNIP1-deficiëntie","Syndromale hypogammaglobulinemie door FNIP1-deficiëntie"]},"pt":{"name":"Síndrome de agamaglobulinemia-cardiomiopatia hipertrófica de início precoce-neutropenia","synonyms":["Agamaglobulinemia sindrómica devido a deficiência FNIP1","Hipogamaglobulinemia sindrómica devido a deficiência FNIP1"]},"pl":{"name":"Zespół agammaglobulinemii, kardiomiopatii przerostowej o wczesnym początku i neutropenii","synonyms":["Syndromic agammaglobulinemia due to FNIP1 deficiency","Syndromic hypogammaglobulinemia due to FNIP1 deficiency"]},"cs":{"name":"Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome","synonyms":["Syndromic agammaglobulinemia due to FNIP1 deficiency","Syndromic hypogammaglobulinemia due to FNIP1 deficiency"]}},"xrefs":[{"source":"OMIM","code":"619705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]},{"orpha":229720,"name":"Syndromic agammaglobulinemia","classifications":[156,195]}],"children":[],"genes":[{"symbol":"FNIP1","name":"folliculin interacting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32905580[PMID]","hgnc":"29418","ensembl":"ENSG00000217128","omim":"610594","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}