{"orpha":692790,"name":"ATP6AP1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATP6AP1-congenital disorder of glycosylation","ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation","CDG-hepathopathy-hypogammaglobulinemia-metabolic cutis laxa syndrome","Carbohydrate deficient glycoprotein syndrome due to ATP6AP1"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-692790/","orphanet_url":"https://www.orpha.net/en/disease/detail/692790","names":{"fr":{"name":"ATP6AP1-CDG","synonyms":["Anomalie congénitale de la glycosylation par déficit en ATP6AP1","Anomalie congénitale de la glycosylation par déficit en protéine ATPase H+ transporting accessory protein 1","Syndrome de CDG-hypogammaglobulinémie-cutis laxa métabolique","Syndrome des glycoprotéines déficientes en hydrate de carbone par déficit en ATP6AP1"]},"de":{"name":"ATP6AP1-CDG","synonyms":["ATP6AP1-Defekt","CDG-Hepatopathie-Hypogammaglobulinämie-Cutis-laxa-Syndrom","CDG-Syndrom Typ IIs","CDG2S","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIs"]},"es":{"name":"Trastorno congénito de la glicosilación asociado al gen ATP6AP1","synonyms":["ATP6AP1-CDG","Síndrome de glicoproteínas deficientes en carbohidratos asociado a ATP6AP1","Síndrome de glicoproteínas deficientes en carbohidratos asociado al gen ATP6AP1","Síndrome metabólico de cutis laxa-CDG-hepatopatía-hipogammaglobulinemia","Trastorno congénito de la glicosilación por defecto de la proteína accesoria ATPasa transportadora de H+ tipo 1"]},"it":{"name":"ATP6AP1-CDG","synonyms":["Malattia congenita della glicosilazione correlata alla proteina accessoria 1 di trasporto di ATPasi H+","Sindrome CDG-epatopatia-ipogammaglobulinemia-cutis laxa metabolica","Sindrome da glicoproteina ??carente in carboidrati correlata ad ATP6AP1","Malattia congenita della glicosilazione correlata a ATP6AP1"]},"nl":{"name":"ATP6AP1-CDG","synonyms":["ATP6AP1-congenitale glycosylatiestoornis","ATPase H+ transporterend accessoir proteïne 1-congenitale glycosylatiestoornis","CDG - hepatopathie - hypogammaglobulinemie - metabole cutis laxa-syndroom","koolhydraatdeficiënt glycoproteïne-syndroom door ATP6AP1"]},"pt":{"name":"ATP6AP1-CDG","synonyms":["ATP6AP1-doença congénita da glicosilação","Proteína transportadora acessória de ATPase H+ 1-doença congénita da glicosilação","Síndrome CDG-hepatopatia-hipogamaglobulinemia-cútis laxa metabólica","Síndrome de deficiência de glicoproteína dos hidratos de carbono devido a ATP6AP1"]},"pl":{"name":"ATP6AP1-CDG","synonyms":["ATP6AP1-congenital disorder of glycosylation","ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation","CDG-hepathopathy-hypogammaglobulinemia-metabolic cutis laxa syndrome","Carbohydrate deficient glycoprotein syndrome due to ATP6AP1"]},"cs":{"name":"ATP6AP1-CDG","synonyms":["ATP6AP1-congenital disorder of glycosylation","ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation","CDG-hepathopathy-hypogammaglobulinemia-metabolic cutis laxa syndrome","Carbohydrate deficient glycoprotein syndrome due to ATP6AP1"]}},"xrefs":[{"source":"OMIM","code":"300972","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]},{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"orpha":309778,"name":"Defect in V-ATPase","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ATP6AP1","name":"ATPase H+ transporting accessory protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35732497[PMID]_27231034[PMID]","hgnc":"868","ensembl":"ENSG00000071553","omim":"300197","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"27231034[PMID]_32395412[PMID]_35732497[PMID]_29396028[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27231034[PMID]_32395412[PMID]_35732497[PMID]_29396028[PMID]_ORPHANET"}],"phenotypes":null}