{"orpha":2308,"name":"Jacobsen syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["11q terminal deletion syndrome","Chromosome 11q deletion syndrome","Del(11)(q23.3)","Del(11)(qter)","Distal deletion 11q","Distal monosomy 11q","Monosomy 11qter","Telomeric deletion 11q"],"definition":"A rare genetic disorder caused by deletions in the long arm of chromosome 11 (<i>11q</i>) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2308/","orphanet_url":"https://www.orpha.net/en/disease/detail/2308","names":{"fr":{"name":"Syndrome de Jacobsen","synonyms":["Del(11)(q23.3)","Del(11)(qter)","Délétion distale 11q","Délétion télomérique 11q","Monosomie 11qter","Monosomie distale 11q","Syndrome de délétion 11q terminale","Syndrome de délétion du chromosome 11q"],"definition":"Maladie génétique rare due à une délétion partielle du bras long du chromosome 11 <i>(11q)</i> se caractérisant par une dysmorphie craniofaciale, une cardiopathie congénitale, une déficience intellectuelle, le syndrome Paris-Trousseau, des anomalies rénales structurelles et une immunodéficience."},"de":{"name":"Jacobsen-Syndrom","synonyms":["Terminale Deletion 11q","11q-Deletionssyndrom","11q-Syndrom","Del(11)(q23.3)","Del(11)(qter)","Distale Deletion 11q","Distale Monosomie 11q","Monosomie 11qter","Telomere Deletion 11q"],"definition":"Eine seltene genetische Störung, die durch Deletionen im langen Arm des Chromosoms 11 (<i>11q</i>) verursacht wird und hauptsächlich durch kraniofaziale Dysmorphien, angeborene Herzfehler, Intelligenzminderung, Paris-Trousseau-Blutungsstörung, strukturelle Nierenfehler und Immunschwäche gekennzeichnet ist."},"es":{"name":"Síndrome de Jacobsen","synonyms":["Del(11)(q23.3)","Del(11)(qter)","Deleción telomérica 11q","Deleción terminal 11q","Monosomía 11qter","Monosomía terminal 11q","Síndrome de deleción del cromosoma 11q","Síndrome de deleción terminal 11q"],"definition":"Es un trastorno de origen genético poco frecuente causado por deleciones en el brazo largo del cromosoma 11 (<i>11q</i>) y caracterizado principalmente por dismorfia craneofacial, cardiopatía congénita, discapacidad intelectual, trastorno hemorrágico de Paris Trousseau, anomalías estructurales renales e inmunodeficiencia."},"it":{"name":"Sindrome di Jacobsen","synonyms":["Del(11)(q23.3)","Del(11)(qter)","Delezione 11q distale","Delezione 11q telomerica","Monosomia 11q distale","Monosomia 11qter","Sindrome da delezione terminale 11q","Sindrome da delezione cromosomica 11q","Delezione telomerica 11q","Sindrome da delezione del cromosoma 11q"],"definition":"La sindrome di Jacobsen (JS) è una malattia genetica rara causata dalle delezioni del braccio lungo del cromosoma 11 (11q). È caratterizzata per lo più da dismorfismi craniofacciali, cardiopatia congenita, disabilità intellettiva, malattia emorragica di Paris Trousseau, difetti della struttura dei reni e immunodeficienza."},"nl":{"name":"Syndroom van Jacobsen","synonyms":["11q-terminale deletiesyndroom","Chromosoom 11q-deletiesyndroom","Del(11)(q23.3)","Del(11)(qter)","Distale deletie 11q","Distale monosomie 11q","Monosomie 11qter","Telomerische deletie 11q"],"definition":"Een zeldzame, genetische aandoening, veroorzaakt door deleties in de lange arm van chromosoom 11 (<i>11q</i>), en voornamelijk gekarakteriseerd door craniofaciale dysmorfie, congenitale hartziekte, intellectuele achterstand, bloedingsstoornis van Paris Trousseau, structurele nierdefecten, en immuundeficiëntie."},"pt":{"name":"Síndrome Jacobsen","synonyms":["Del(11)(q23.3)","Del(11)(qter)","Deleção distal 11q","Deleção telomérica 11q","Monossomia 11qter","Monossomia distal 11q","Síndrome de deleção cromossoma 11q"],"definition":"O síndrome de Jacobsen é um síndrome de anomalias congénitas múltiplas /atraso mental (MCA/MR), de genes contíguos, causado pela delecção parcial do braço longo do cromossoma 11. Até à data foram descritos mais de 200 casos na literatura."},"pl":{"name":"Zespół Jacobsena","synonyms":["Del(11)(q23.3)","Del(11)(qter)","Dystalna delecja 11q","Dystalna monosomia 11q","Monosomia 11qter","Telomerowa delecja 11q"]},"cs":{"name":"Jacobsenův syndrom","synonyms":["Del(11)(q23.3)","Del(11)(qter)","Distální mikrodelece 11q","Distální monozomie 11q","Monozomie 11qter","Telomerická delece 11q"]},"uk":{"name":"Синдром Якобсена","synonyms":["Синдром делеції терміналу 11q","Синдром делеції хромосоми 11q","Del(11)(q23.3)","Del(11)(qter)","Дистальна делеція 11q","Дистальна моносомія 11q","Моносомія 11qter","Делеція теломерної ділянки 11q"],"definition":"A rare genetic disorder caused by deletions in the long arm of chromosome 11 (<i>11q</i>) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency."},"zh":{"name":"Jacobsen综合征","synonyms":["11号染色体长臂远端端粒缺失"]},"tr":{"name":"Jacobsen sendromu","synonyms":["Del(11)(qter)","Del(11)(q23.3)","Monozomi 11qter","Distal delesyon 11q","Distal monozomi 11q","Telomerik delesyon 11q"]}},"xrefs":[{"source":"OMIM","code":"147791","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.B0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"27788176"},{"source":"MONDO","code":"0007838","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054868","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795841","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"307","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262092,"name":"Partial deletion of the long arm of chromosome 11 syndrome","classifications":[147,156]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":331220,"name":"Syndome with combined immunodeficiency due to thymic defect","classifications":[156,195]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"FLI1","name":"Fli-1 proto-oncogene, ETS transcription factor","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26285164[PMID]","hgnc":"3749","ensembl":"ENSG00000151702","omim":"193067","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"United States","status":"Validated","source":"[EXPERT]_19267933[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","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:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001847","label":"Long hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001863","label":"Toe clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004378","label":"Abnormality of the anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}