{"orpha":99812,"name":"LIG4 syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DNA ligase IV syndrome","SCID with macrocephaly due to DNA ligase IV deficiency"],"definition":"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99812/","orphanet_url":"https://www.orpha.net/en/disease/detail/99812","names":{"fr":{"name":"Syndrome LIG4","synonyms":["Immunodéficience combinée sévère par déficit en DNA ligase IV"],"definition":"Le syndrome LIG4 est un trouble héréditaire associé à une détérioration des mécanismes de réparation des ruptures de double brin de l'ADN, et caractérisé par une microcéphalie, une dysmorphie facile/, un retard de croissance et de développement, des anomalies cutanées, et une pancytopénie associée à un déficit immunitaire."},"de":{"name":"LIG4-Syndrom","synonyms":["SCID mit Makrozephalie durch DNA-Ligase-IV-Mangel","DNA-Ligase IV-Mangel","Ligase 4-Syndrom"],"definition":"Das LIG4-Syndrom ist eine erbliche Krankheit mit gestörter Reparatur von DNA-Doppelstrang-Brüchen und gekennzeichnet durch Mikrozephalie, ungewöhnliche Gesichtszüge, Wachstums- und Entwicklungsverzögerung, Hautanomalien und Panzytopenie in Verbindung mit Kombiniertem Immundefekt (CID)."},"es":{"name":"Síndrome LIG4","synonyms":["IDCG con macrocefalia por deficiencia de ADN ligasa IV","SCID con macrocefalia por deficiencia de ADN ligasa IV","Síndrome de ADN ligasa IV"],"definition":"El síndrome LIG4 es un trastorno hereditario asociado con anomalías en los mecanismos de reparación de roturas de doble cadena del ADN y se caracteriza por microcefalia, rasgos faciales peculiares, retraso en el crecimiento y en el desarrollo, anomalías cutáneas y pancitopenia, asociada a una inmunodeficiencia combinada (CID)."},"it":{"name":"Sindrome LIG4","synonyms":["SCID con microcefalia da deficit di DNA ligasi IV","Sindrome della ligasi 4"],"definition":"La sindrome LIG4 è una malattia ereditaria associata ad anomalie dei meccanismi di riparazione delle rotture a doppio filamento del DNA; è caratterizzata da microcefalia, facies peculiare, ritardo della crescita e dello sviluppo, anomalie cutanee e pancitopenia, associata a immunodeficienza combinata (CID)."},"nl":{"name":"LIG4-syndroom","synonyms":["Ernstige gecombineerde immuundeficiëntie met macrocefalie door deficiëntie van DNA ligase IV","DNA ligase IV-syndroom","SCID met macrocefalie door deficiëntie van DNA ligase IV"],"definition":"LIG4-syndroom is een erfelijke aandoening geassocieerd met verstoorde herstelmechanismen van DNA-dubbelstrengsbreuken, en wordt gekenmerkt door microcefalie, ongewone gelaatstrekken, vertraagde groei en ontwikkeling, huidafwijkingen en pancytopenie, die gepaard gaat met gecombineerde immuundeficiëntie (CID)."},"pt":{"name":"Síndrome LIG4"},"pl":{"name":"Zespół LIG4","synonyms":["Niedobór ligazy DNA IV","Zespół ligazy 4"]},"cs":{"name":"LIG4 syndrom","synonyms":["Deficit DNA ligázy IV","Ligáza 4 syndrom"]},"uk":{"name":"Синдром LIG4","synonyms":["Дефіцит ДНК-лігази IV","Синдром лігази 4"],"definition":"LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)."},"zh":{"name":"LIG4综合征","synonyms":["DNA连接酶IV缺陷"],"definition":"LIG4综合征是一种遗传性疾病，与DNA双链断裂修复机制受损有关，其特征是小头畸形、面部特征异常、生长发育迟缓、皮肤异常和全血细胞减少，与联合免疫缺陷(CID)有关。"},"tr":{"name":"LIG4 sendromu","synonyms":["Ligaz 4 sendromu","DNA ligaz IV eksikliği"]}},"xrefs":[{"source":"OMIM","code":"606593","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"969767034"},{"source":"MONDO","code":"0011686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564694","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847827","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":720308,"name":"T-B-NK+ severe combined immunodeficiency with microcephaly","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"LIG4","name":"DNA ligase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23372718[PMID]","hgnc":"6601","ensembl":"ENSG00000174405","omim":"601837","loci":["13q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"27717373[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27717373[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"16088910[PMID]","terms":[{"hpo":"HP:0003220","label":"Abnormality of chromosome stability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000320","label":"Bird-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004430","label":"Severe combined immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}