{"orpha":760,"name":"Purine nucleoside phosphorylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PNP deficiency","PNPase deficiency"],"definition":"A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-760/","orphanet_url":"https://www.orpha.net/en/disease/detail/760","names":{"fr":{"name":"Déficit en purine nucléoside phosphorylase","synonyms":["Déficit en PNP","Déficit en PNPase"],"definition":"Maladie immunologique rare caractérisée par une immunodéficience progressive entraînant des infections récurrentes et opportunistes, une auto-immunité et une affection maligne, ainsi que des signes neurologiques."},"de":{"name":"Purin-Nukleosid-Phosphorylase-Mangel","synonyms":["PNP-Mangel","PNPase-Mangel"],"definition":"Eine seltene Immunkrankheit, die durch fortschreitende Immunschwäche gekennzeichnet ist und zu rezidivierenden und opportunistischen Infektionen, Autoimmunität und Malignität sowie neurologischen Manifestationen führt."},"es":{"name":"Deficiencia de purina nucleósido fosforilasa","synonyms":["Deficiencia de PNP","Deficiencia de PNPasa"],"definition":"Es una enfermedad inmunitaria poco frecuente caracterizada por una inmunodeficiencia progresiva que conduce a infecciones recurrentes y oportunistas, autoinmunidad y neoplasias, así como a manifestaciones neurológicas."},"it":{"name":"Deficit di purina nucleoside fosforilasi","synonyms":["Deficit di PNP","Deficit di PNPasi"],"definition":"Il deficit di purina nucleoside fosforilasi (PNP) è una malattia immunitaria rara, caratterizzata da immunodeficienza progressiva associata a infezioni opportunistiche ricorrenti, autoimmunità, tumori maligni e sintomi neurologici."},"nl":{"name":"Deficiëntie van purinenucleosidefosforylase","synonyms":["PNP-deficiëntie","PNPase-deficiëntie"],"definition":"Een zeldzame immuunziekte, gekarakteriseerd door progressieve immuundeficiëntie die leidt tot terugkerende en opportunistische infecties, auto-immuniteit en maligniteit, alsook neurologische manifestaties."},"pt":{"name":"Deficiência de nucleosídeos purínicos fosforilase"},"pl":{"name":"Niedobór fosforylazy nukleozydów purynowych","synonyms":["Niedobór PNP","Niedobór PNPazy"]},"cs":{"name":"Deficit purin-nukleosid-fosforylázy","synonyms":["Deficit PNP","Deficit PNPázy"]},"uk":{"name":"Дефіцит пуриннуклеозидфосфорилази","synonyms":["Дефіцит PNP","Дефіцит PNPази"],"definition":"A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations."},"zh":{"name":"嘌呤核苷磷酸化酶缺陷","synonyms":["嘌呤核苷磷酸化酶缺陷"]},"tr":{"name":"Pürin nükleozid fosforilaz eksikliği","synonyms":["PNP eksikliği","PNPase eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613179","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1771940876"},{"source":"MONDO","code":"0013171","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562587","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268125","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4606","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10086665","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":480549,"name":"Non-severe combined immunodeficiency","classifications":[156,195,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PNP","name":"purine nucleoside phosphorylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11453975[PMID]","hgnc":"7892","ensembl":"ENSG00000198805","omim":"164050","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":72.0,"area":"Worldwide","status":"Validated","source":"30885031[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_30885031[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-05","source":"1931007[PMID]_16176880[PMID]_22038677[PMID]_22132981[PMID]","terms":[{"hpo":"HP:0002843","label":"Abnormal T cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011935","label":"Decreased urinary urate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005363","label":"Humoral immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003537","label":"Hypouricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004430","label":"Severe combined immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032166","label":"Unusual gastrointestinal infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011442","label":"Abnormality of central motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045080","label":"Decreased proportion of CD3-positive T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Very rare (<4-1%)","criteria":null}]}}