{"orpha":420741,"name":"RIDDLE syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["RNF168 deficiency","Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"],"definition":"A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420741/","orphanet_url":"https://www.orpha.net/en/disease/detail/420741","names":{"fr":{"name":"Syndrome de RIDDLE","synonyms":["Déficit en RNF168","Syndrome de radiosensibilité-déficit immunitaire-dysmorphie-difficultés d'apprentissage"],"definition":"Déficit immunitaire primaire rare d'origine génétique, caractérisé par une radiosensibilité accrue (R), un léger déficit immunitaire (ID pour immunodeficiency), une dysmorphie (D) et des troubles d'apprentissage (LE pour learning difficulties)."},"de":{"name":"RIDDLE-Syndrom","synonyms":["RNF168-Mangel","Strahlenempfindlichkeit-Immundefekt-dysmorphologische Merkmale-Lernschwierigkeiten-Syndrom"]},"es":{"name":"Síndrome RIDDLE","synonyms":["Deficiencia en RNF168","Síndrome de radiosensibilidad-inmunodeficiencia-rasgos dismórficos-dificultades de aprendizaje"],"definition":"Es un trastorno genético poco frecuente de inmunodeficiencia primaria caracterizado por un aumento de la radiosensibilidad (R), inmunodeficiencia leve (ID), características dismórficas (D) y dificultades de aprendizaje (LE)."},"it":{"name":"Sindrome RIDDLE","synonyms":["Deficit di RNF168","Sindrome radiosensibilità-immunodeficienza-dismorfismi-difficoltà dell'apprendimento"],"definition":"È una malattia genetica rara da immunodeficienza primitiva, caratterizzata da R-radiosensibilità, ID- immunodeficienza, D-dismorfismi, LE-difficoltà di apprendimento."},"nl":{"name":"RIDDLE-syndroom","synonyms":["RNF168-deficiëntie","Radiosensitiviteit - immuundeficiëntie - dysmorfe kenmerken - leerproblemen-syndroom"],"definition":"Een zeldzame, genetische, primaire immuundeficiëntie die gekarakteriseerd wordt door verhoogde radiosensitiviteit (R), milde immuundeficiëntie (ID), dysmorfe kenmerken (D), en leerproblemen (LE)."},"pt":{"name":"Síndrome de RIDDLE"},"pl":{"name":"Zespół RIDDLE","synonyms":["Niedobór RNF168","Zespół radiowrażliwości, niedoboru odporności, dysmorfii i trudności w uczeniu"]},"cs":{"name":"RIDDLE syndrom","synonyms":["Deficit RNF168","Syndrom zahrnující radiosenzitivitu, imunodeficienci, dysmorfické rysy a obtíže s učením"]},"uk":{"name":"Синдром RIDDLE","synonyms":["Синдром радіочутливості - імунодефіциту - дисморфічних особливостей - труднощів у навчанні","Дефіцит RNF168"],"definition":"A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE)."},"zh":{"name":"RIDDLE 综合征","synonyms":["放射敏感性-免疫缺陷-畸形特征-学习障碍综合征"],"definition":"一种罕见的遗传性原发性免疫缺陷疾病，其特征在于对放射敏感性增加，轻度免疫缺陷（ID），畸形特征（D）和学习困难（LE）。"},"tr":{"name":"RIDDLE sendromu","synonyms":["RNF168 eksikliği","Radyosensitivite-immün yetmezlik-dismorfik özellikler-öğrenme güçlüğü sendromu"]}},"xrefs":[{"source":"OMIM","code":"611943","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012764","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567453","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677792","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":98097,"name":"Autosomal recessive cerebellar ataxia due to a DNA repair defect","classifications":[156,181]},{"orpha":169346,"name":"DNA repair defect other than combined T-cell and B-cell immunodeficiencies","classifications":[156,195,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RNF168","name":"ring finger protein 168","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21394101[PMID]_19203578[PMID]","hgnc":"26661","ensembl":"ENSG00000163961","omim":"612688","loci":["3q29"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17940005[PMID]_21394101[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17940005[PMID]_21394101[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-28","source":"17940005[PMID]_21394101[PMID]_29255463[PMID]","terms":[{"hpo":"HP:0010997","label":"Chromosomal breakage induced by ionizing radiation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011108","label":"Recurrent sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000524","label":"Conjunctival telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010677","label":"Enuresis nocturna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008940","label":"Generalized lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030746","label":"Intraventricular hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007057","label":"Poor hand-eye coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}