{"orpha":90023,"name":"Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary immunodeficiency syndrome due to LAMTOR2 deficiency","Primary immunodeficiency syndrome due to P14 deficiency","Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency"],"definition":"Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90023/","orphanet_url":"https://www.orpha.net/en/disease/detail/90023","names":{"fr":{"name":"Syndrome de déficit immunitaire primaire par déficit en P14/LAMTOR2","synonyms":["Syndrome d'immunodéficience primaire par déficit en LAMTOR2","Syndrome d'immunodéficience primaire par déficit en P14","Syndrome d'immunodéficience primaire par déficit en protéine P14/lysosomal adaptor, MAPK and MTOR activator 2"],"definition":"Le syndrome d'immunodéficience primaire par déficit en p14 se caractérise par une petite taille, une hypopigmentation, des traits faciaux grossiers et de fréquentes infections bronchopulmonaires par <i>Streptococcus pneumoniae</i>."},"de":{"name":"Primäres Immundefekt-Syndrom durch LAMTOR2-Defizienz","synonyms":["P14/LAMTOR2-Defekt","Primärer Immundefekt durch P14-Mangel"],"definition":"Dieses Syndrom ist gekennzeichnet durch Kleinwuchs, Hypopigmentierung, vergröbertes Gesicht und rezidivierende broncho-pulmonale Infektionen mit <i>Streptococcus pneumoniae</i."},"es":{"name":"Síndrome de inmunodeficiencia primaria por deficiencia de P14/LAMTOR2","synonyms":["Síndrome de inmunodeficiencia primaria por deficiencia de LAMTOR2","Síndrome de inmunodeficiencia primaria por deficiencia de P14","Síndrome de inmunodeficiencia primaria por deficiencia de P14/endosoma tardío/adaptador lisosomal, activador MAPK y MTOR 2","Síndrome de inmunodeficiencia primaria por deficiencia de p14"],"definition":"Es un síndrome caracterizado por talla baja, hipopigmentación, facies tosca y frecuentes infecciones broncopulmonares por <i>Streptococcus pneumoniae</i>."},"it":{"name":"Sindrome da immunodeficienza primitiva dovuta a deficit di P14/LAMTOR2","synonyms":["Immunodeficienza primitiva da deficit di P14/adattatore tardivo endosomiale/lisosomiale, attivatore 2 di MAPK e MTOR","Sindrome da immunodeficienza primitiva dovuta a deficit di LAMTOR2","Sindrome da immunodeficienza primitiva dovuta a deficit di P14"]},"nl":{"name":"Primair immuundeficiëntiesyndroom door P14/LAMTOR2-deficiëntie","synonyms":["Primair immuundeficiëntiesyndroom door LAMTOR2-deficiëntie","Primair immuundeficiëntiesyndroom door P14-deficiëntie","Primair immuundeficiëntiesyndroom door deficiëntie van P14/Late endosomale/lysosomale adaptor, MAPK en MTOR activator 2"],"definition":"Primaire immuundeficiëntiesyndroom door p14-deficiëntie wordt gekenmerkt door kleine gestalte, hypopigmentatie, ruw gelaat, en frequente bronchopulmonale infecties door <i>Streptococcus pneumoniae</i>."},"pt":{"name":"Síndrome de imunodeficiência primária por deficiência de P14/LAMTOR2","synonyms":["Síndrome de imunodeficiência primária por deficiência de LAMTOR2","Síndrome de imunodeficiência primária por deficiência de P14","Síndrome de imunodeficiência primária por deficiência de P14/endossoma tardio/adaptador lisossomal, activador MAPK e MTOR"]},"pl":{"name":"Zespół pierwotnego niedoboru odporności spowodowany niedoborem P14/LAMTOR2","synonyms":["Zespół pierwotnego niedoboru odporności z niskim wzrostem"]},"cs":{"name":"Primární imunodeficience způsobená deficitem p14","synonyms":["Primární imunodeficience s nízkým vzrůstem"]},"uk":{"name":"Синдром первинного імунодефіциту внаслідок дефіциту P14/LAMTOR2","synonyms":["Синдром первинного імунодефіциту внаслідок дефіциту LAMTOR2","Синдром первинного імунодефіциту внаслідок дефіциту P14","Синдром первинного імунодефіциту, зумовлений дефіцитом P14/пізнього ендосомального/лізосомального адаптера, MAPK та активатора MTOR 2"],"definition":"Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections."},"zh":{"name":"LAMTOR2缺乏所致原发性免疫缺陷综合征","synonyms":["p14缺陷致原发性免疫缺陷综合征"]},"tr":{"name":"LAMTOR2 eksikliğine bağlı primer immün yetmezlik sendromu","synonyms":["Kısa boy ile seyreden primer immün yetmezlik sendromu","P14 eksikliğine bağlı primer immün yetmezlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"610798","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B00.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"813140844"},{"source":"MONDO","code":"0012559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305256","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"LAMTOR2","name":"late endosomal/lysosomal adaptor, MAPK and MTOR activator 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"29796","ensembl":"ENSG00000116586","omim":"610389","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"17195838[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17195838[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17195838[PMID]","terms":[{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007443","label":"Partial albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006538","label":"Recurrent bronchopulmonary infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}