{"orpha":693627,"name":"Agammaglobulinemia-skin involvement-failure to thrive syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypogammaglobulinemia-skin involvement-failure to thrive syndrome","Syndromic agammaglobulinemia due to ZIP7 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-693627/","orphanet_url":"https://www.orpha.net/en/disease/detail/693627","names":{"fr":{"name":"Syndrome d'agammaglobulinémie-atteinte cutanée-retard staturo-pondéral","synonyms":["Agammglobulinémie syndromique par déficit en protéine ZIP7","Syndrome d'hypoglobulinémie-atteinte cutanée-retard staturo-pondéral"]},"de":{"name":"Agammaglobulinämie-Hautbeteiligung-Gedeihstörung-Syndrom","synonyms":["Agammaglobulinämie 9, autosomal-rezessive","Syndromale Agammaglobulinämie durch ZIP7-Defizienz"]},"es":{"name":"Síndrome de agammaglobulinemia-afectación cutánea-fallo de medro","synonyms":["Agammaglobulinemia sindrómica por deficiencia de ZIP7","Síndrome de hipogammaglobulinemia-afectación cutánea-fallo de medro"]},"it":{"name":"Sindrome agammaglobulinemia-coinvolgimento cutaneo-ritardo della crescita","synonyms":["Sindrome ipogammaglobulinemia-coinvolgimento cutaneo-ritardo della crescita","Agammaglobulinemia sindromica da deficit di ZIP7"]},"nl":{"name":"Agammaglobulinemie - betrokkenheid van huid - niet-gedijen-syndroom","synonyms":["Hypogammaglobulinemie - betrokkenheid van huid - niet-gedijen-syndroom","Syndromale agammaglobulinemie door ZIP7-deficiëntie"]},"pt":{"name":"Síndrome de agamaglobulinemia-envolvimento cutâneo-atraso de crescimento","synonyms":["Agamaglobulinemia sindrómica devido a deficiência ZIP7","Síndrome de hipogamaglobulinemia-envolvimento cutâneo-atraso de crescimento"]},"pl":{"name":"Zespół agammaglobulinemii, zajęcia skóry i nieprawidłowego rozwoju","synonyms":["Hypogammaglobulinemia-skin involvement-failure to thrive syndrome","Syndromic agammaglobulinemia due to ZIP7 deficiency"]},"cs":{"name":"Agammaglobulinemia-skin involvement-failure to thrive syndrome","synonyms":["Hypogammaglobulinemia-skin involvement-failure to thrive syndrome","Syndromic agammaglobulinemia due to ZIP7 deficiency"]}},"xrefs":[{"source":"OMIM","code":"619693","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.00","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":229720,"name":"Syndromic agammaglobulinemia","classifications":[156,195]}],"children":[],"genes":[{"symbol":"SLC39A7","name":"solute carrier family 39 member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30718914[PMID]","hgnc":"4927","ensembl":"ENSG00000112473","omim":"601416","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"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}