{"orpha":693681,"name":"Activated PI3K-delta syndrome 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["APDS type 2","APDS2","Activated p110delta syndrome, type 2","Activated phosphoinositide 3-kinase delta syndrome type 2","PASLI-R1","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-693681/","orphanet_url":"https://www.orpha.net/en/disease/detail/693681","names":{"fr":{"name":"Syndrome de PI3K-delta activée 2","synonyms":["APDS type 2","APDS2","Syndrome de déficit immunitaire-lymphadénopathie et cellules T sénéscentes dus à des mutations activatrices de p110delta type 2"]},"de":{"name":"Aktivierte PIK3-Delta-Syndrom 2","synonyms":["APDS Typ 2","APDS2","Aktivierte Phosphoinositid-3-Kinase-delta-Syndrom Typ 2","PASLI-R1","Seneszente T-Zellen-Lymphadenopathie-Immundefektsyndrom durch p110delta-aktivierende Mutationen vom Typ 2"]},"es":{"name":"Síndrome de PIK3-delta activada 2","synonyms":["APDS tipo 2","APDS2","PASLI-R1","Síndrome de células T senescentes-linfadenopatía-inmunodeficiencia por mutaciones activadoras en p110delta, tipo 2","Síndrome de fosfoinosítido 3-quinasa delta activada 2","Síndrome de p110delta activada tipo 2"]},"it":{"name":"Sindrome da attivazione di PI3K-delta 2","synonyms":["APDS","APDS tipo 2","APDS2","Sindrome da attivazione di fosfoinositide 3-chinasi delta tipo 2","PASLI-R1","Sindrome cellule T senescenti-linfoadenopatia-immunodeficienza da mutazioni attivanti p110delta, tipo 2"]},"nl":{"name":"Geactiveerd PIK3-delta-syndroom 2","synonyms":["APDS type 2","APDS2","Geactiveerd fosfoinositide 3-kinase delta-syndroom type 2","Geactiveerd p110delta-syndroom, type 2","PASLI-R1","Senescente T-cellen - lymfadenopathie - immuundeficiëntie-syndroom door p110delta-activerende mutaties, type 2"]},"pt":{"name":"Síndrome 2 de PIK3-delta activado","synonyms":["APDS tipo 2","APDS2","PASLI-R1","Síndrome de células T senescentes-linfadenopatia-imunodeficiência devido a mutações ativadoras de p110delta, tipo 2","Síndrome de fosfoinositídeo 3-quinase delta ativada tipo 2","Síndrome p110delta activado, tipo 2"]},"pl":{"name":"Zespół aktywacji PI3K-delta typu 2","synonyms":["APDS type 2","APDS2","Activated p110delta syndrome, type 2","Activated phosphoinositide 3-kinase delta syndrome type 2","PASLI-R1","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2"]},"cs":{"name":"Activated PI3K-delta syndrome 2","synonyms":["APDS type 2","APDS2","Activated p110delta syndrome, type 2","Activated phosphoinositide 3-kinase delta syndrome type 2","PASLI-R1","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2"]}},"xrefs":[{"source":"OMIM","code":"616005","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":"PIK3R1","name":"phosphoinositide-3-kinase regulatory subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25133428[PMID]","hgnc":"8979","ensembl":"ENSG00000145675","omim":"171833","loci":["5q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-19","source":"34249806[PMID]_34422726[PMID]_27116393[PMID]","terms":[{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005387","label":"Combined immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008348","label":"Decreased circulating IgG2 level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032204","label":"Chronic active Epstein-Barr virus infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005411","label":"Chronic intestinal candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","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}]}}