{"orpha":693661,"name":"Activated PI3K-delta syndrome 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PASLI-CD","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1","APDS type 1","APDS1","Activated p110delta syndrome, type 1","Activated phosphoinositide 3-kinase delta syndrome-1"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-693661/","orphanet_url":"https://www.orpha.net/en/disease/detail/693661","names":{"fr":{"name":"Syndrome de PI3K-delta activée 1","synonyms":["APDS type 1","APDS1","Syndrome de déficit immunitaire-lymphadénopathie et cellules T sénéscentes dus à des mutations activatrices de p110delta type 1"]},"de":{"name":"Aktivierte PIK3-Delta-Syndrom 1","synonyms":["APDS Typ 1","APDS1","Aktivierte Phosphoinositid-3-Kinase-delta-Syndrom Typ 1","PASLI-CD","Seneszente T-Zellen-Lymphadenopathie-Immundefektsyndrom durch p110delta-aktivierende Mutationen vom Typ 1"]},"es":{"name":"Síndrome de PIK3-delta activada 1","synonyms":["APDS tipo 1","APDS1","PASLI-CD","Síndrome de células T senescentes-linfadenopatía-inmunodeficiencia por mutaciones activadoras en p110delta, tipo 1","Síndrome de fosfoinosítido 3-quinasa delta activada 1","Síndrome de p110delta activada tipo 1"]},"it":{"name":"Activated PIK3-delta syndrome 1"},"nl":{"name":"Geactiveerd PIK3-delta-syndroom 1","synonyms":["APDS type 1","APDS1","Geactiveerd fosfoinositide 3-kinase delta-syndroom type 1","Geactiveerd p110delta-syndroom, type 1","PASLI-CD","Senescente T-cellen - lymfadenopathie - immuundeficiëntie-syndroom door p110delta-activerende mutaties, type 1"]},"pt":{"name":"Síndrome PI3K-delta activada 1","synonyms":["APDS tipo 1","APDS1","PASLI-CD","Síndrome de células T senescentes-linfadenopatia-imunodeficiência devida a mutações ativadoras de p110delta, tipo 1","Síndrome de fosfoinositídeo 3-quinase delta ativada 1","Síndrome p110delta activada, tipo 1"]},"pl":{"name":"Zespół aktywacji PI3K-delta typu 1","synonyms":["PASLI-CD","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1","APDS type 1","APDS1","Activated p110delta syndrome, type 1","Activated phosphoinositide 3-kinase delta syndrome-1"]},"cs":{"name":"Activated PI3K-delta syndrome 1","synonyms":["PASLI-CD","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1","APDS type 1","APDS1","Activated p110delta syndrome, type 1","Activated phosphoinositide 3-kinase delta syndrome-1"]}},"xrefs":[{"source":"OMIM","code":"615513","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":397596,"name":"Activated PI3K-delta syndrome","classifications":[152,156,195,233]}],"children":[],"genes":[{"symbol":"PIK3CD","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24136356[PMID]","hgnc":"8977","ensembl":"ENSG00000171608","omim":"602839","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-20","source":"34422726[PMID]_34249806[PMID]_27555459[PMID]","terms":[{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011956","label":"Intestinal lymphoid nodular hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032204","label":"Chronic active Epstein-Barr virus infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000620","label":"Dacryocystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032163","label":"Molluscum contagiosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032247","label":"Persistent CMV viremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020114","label":"Persistent human papillomavirus infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011110","label":"Recurrent tonsillitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031699","label":"Disseminated cryptosporidium infection","frequency":"Very rare (<4-1%)","criteria":null}]}}