{"orpha":251066,"name":"8p11.2 deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(8)(p11.2)","Monosomy 8p11.2"],"definition":"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251066/","orphanet_url":"https://www.orpha.net/en/disease/detail/251066","names":{"fr":{"name":"Syndrome de délétion 8p11.2","synonyms":["Del(8)(p11.2)","Monosomie 8p11.2"],"definition":"Le syndrome de délétion 8p11.2 est un syndrome des gènes contigus caractérisé par l'association d'une sphérocytose congénitale, d'une dysmorphie faciale, d'un retard de croissance et d'un hypogonadisme hypogonadotrophique."},"de":{"name":"Mikrodeletionssyndrom 8p11.2","synonyms":["Del(8)(p11.2)","Monosomie 8p11.2"],"definition":"Das 8p11.2-Deletion-Syndrom ist ein Contiguous gene-Syndrom. Charakteristisch ist die Assoziation von Kongenitaler Sphärozytose, Dysmorphien, verzögertem Wachstum und hypogonadotrophem Hypogonadismus."},"es":{"name":"Síndrome de deleción 8p11.2","synonyms":["Del(8)(p11.2)","Monosomía 8p11.2"],"definition":"Es un síndrome de genes contiguos caracterizado por la asociación de esferocitosis, rasgos dismórficos, retraso del crecimiento e hipogonadismo hipogonadotrópico."},"it":{"name":"Sindrome da delezione 8p11.2","synonyms":["Del(8)(p11.2)","Monosomia 8p11.2"],"definition":"La sindrome da delezione 8p11.2 è una malattia rara da geni contigui, caratterizzata dall'associazione tra la sferocitosi congenita, i dismorfismi, il ritardo della crescita e l'ipogonadismo ipogonadotropo."},"nl":{"name":"8p11.2-deletiesyndroom","synonyms":["Del(8)(p11.2)","Monosomie 8p11.2"],"definition":"Een contiguous gene-syndroom, gekenmerkt door de associatie van congenitale sferocytose, dysmorfe kenmerken, groeiachterstand, en hypogonadotroop hypogonadisme."},"pt":{"name":"Síndrome de microdeleção 8p11.2","synonyms":["Monossomia 8p11.2"],"definition":"A síndrome de deleção 8p11.2 é uma síndrome de genes contíguos caracterizada pela associação de esferocitose congénita, características dismórficas, atraso de crescimento e hipogonadismo hipogonadotrófico."},"pl":{"name":"Zespół delecji 8p11.2","synonyms":["Del(8)(p11.2)","Monosomia 8p11.2"]},"cs":{"name":"Syndrom delece 8p11.2","synonyms":["Del(8)(p11.2)","Monozomie 8m11.2"]},"uk":{"name":"Синдром делеції 8p11.2","synonyms":["Del(8)(p11.2)","Моносомія 8p11.2"],"definition":"8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism."},"zh":{"name":"染色体8p11.2缺失综合征","synonyms":["8p11.2单体"],"definition":"8p11.2缺失综合征是一种以先天性球形细胞增多症、畸形特征、生长迟缓和低促性腺激素性性腺功能减退症为特征的邻近基因缺失综合征。"},"tr":{"name":"8p11.2 delesyon sendromu","synonyms":["Del (8) (s11.2)","Monozomi 8p11.2"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.81","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1782338750"},{"source":"MONDO","code":"0016657","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304505","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261920,"name":"Partial deletion of the short arm of chromosome 8 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ANK1","name":"ankyrin 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22771917[PMID]","hgnc":"492","ensembl":"ENSG00000029534","omim":"612641","loci":["8p11.21"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15948194[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15948194[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"11920837[PMID]","terms":[{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004444","label":"Spherocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005815","label":"Supernumerary ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}