{"orpha":94063,"name":"12q14 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(12)(q14)","Deletion 12q14","Monosomy 12q14","Osteopoikilosis-short stature-intellectual disability syndrome"],"definition":"12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the <i>LEMD3</i> gene: mutations in this gene have already been implicated in osteopoikilosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94063/","orphanet_url":"https://www.orpha.net/en/disease/detail/94063","names":{"fr":{"name":"Syndrome de microdélétion 12q14","synonyms":["Del(12)(q14)","Délétion 12q14","Monosomie 12q14","Syndrome d'ostéopoecilie-petite taille-déficience intellectuelle","Syndrome d'ostéopoïkilose-petite taille-déficience intellectuelle"],"definition":"Le syndrome de microdélétion se caractérise par un déficit intellectuel modéré, un retard de croissance staturo-pondérale, une petite taille et une ostéopoecilie. Il a été décrit chez quatre patients sans lien de parenté. Une délétion hétérozygote de la région 12q14 retrouvée chez 3 des 4 patients serait à l'origine de la maladie. La partie délétée contient entre autre le gène <i>LEMD3</i> déjà mis en cause chez des patients présentant une ostéopoecilie."},"de":{"name":"Mikrodeletionssyndrom 12q14","synonyms":["Del(12)(q14)","Deletion 12q14","Monosomie 12q14","Osteopoikilose-Kleinwuchs-Intelligenzminderung-Syndrom"]},"es":{"name":"Síndrome de microdeleción 12q14","synonyms":["Del(12)(q14)","Deleción 12q14","Monosomía 12q14","Síndrome de osteopoiquilosis-talla baja-discapacidad intelectual"],"definition":"Es un síndrome caracterizado por un déficit intelectual leve, fallo de medro, talla baja y osteopoiquilosis. Se ha descrito en cuatro pacientes no emparentados. El síndrome parece estar causado por una deleción heterocigótica en la región cromosómica 12q14, que se detectó en tres de los cuatro pacientes. La región eliminada contiene el gen <i>LEMD3</i>; las mutaciones en este gen ya se han implicado en la patogenia de la osteopoiquilosis."},"it":{"name":"Sindrome da microdelezione 12q14","synonyms":["Del(12)(q14)","Delezione 12q14","Monosomia 12q14","Sindrome osteopoichilosi-bassa statura-deficit cognitivo"]},"nl":{"name":"12q14-microdeletiesyndroom","synonyms":["Del(12)(q14)","Deletie 12q14","Monosomie 12q14","Osteopoikilose - kleine gestalte - intellectuele achterstand-syndroom"],"definition":"Een syndroom, gekenmerkt door milde intellectuele achterstand, niet-gedijen, kleine gestalte, en osteopoikilose. 12q14-microdeletiesyndroom werd beschreven bij vier niet-verwante patiënten. Het syndroom lijkt veroorzaakt te worden door heterozygote deletie in chromosoomregio 12q14, die werd gedetecteerd bij drie van de vier patiënten. De gedeleteerde regio bevat het gen <i>LEMD3</i>, en mutaties in dit gen werden reeds in verband gebracht met osteopoikilose."},"pt":{"name":"Síndrome de microdeleção 12q14","synonyms":["Del(12)(q14)","Deleção 12q14","Monossomia 12q14","Síndrome de osteopoiquilose-baixa estatura-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół mikrodelecji 12q14","synonyms":["Del(12)(q14)","Delecja 12q14","Monosomia 12q14","Osteopoikilia - niski wzrost - niepełnosprawność intelektualna"]},"cs":{"name":"Mikrodeleční syndrom 12q14","synonyms":["Del(12)(q14)","Delece 12q14","Monozomie 12q14","Syndrom zahrnující osteopoikilózu, malý vzrůst a mentální retardaci"]},"uk":{"name":"Синдром мікроделеції 12q14","synonyms":["Del(12)(q14)","Делеція 12q14","Моносомія 12q14","Синдром остеопоїкілозу - низького зросту-інтелектуальної недостатності"],"definition":"12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the <i>LEMD3</i> gene: mutations in this gene have already been implicated in osteopoikilosis."},"zh":{"name":"2q14微缺失综合征","synonyms":["全身脆性骨硬化-身材矮小-智力障碍综合征"],"definition":"12q14微缺失综合征的特征是轻度智力缺陷、发育不良、身材矮小和骨质疏松。该病已在四个相互无关的病人中报道过。该综合征似乎是由染色体12q14区域的杂合缺失引起的，在四名患者中有三名患者检测到了这种缺失。缺失区域包含LEMD3基因：该基因的突变与骨质疏松症有关。"},"tr":{"name":"12q14 mikrodelesyon sendromu","synonyms":["Del (12) (q14)","Delesyon 12q14","Monozomi 12q14","Osteopoikiloz-kısa boy-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"166700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"190553243"},{"source":"MONDO","code":"0019784","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305140","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13390","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone 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":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]},{"orpha":261821,"name":"Partial deletion of the long arm of chromosome 12 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"HMGA2","name":"high mobility group AT-hook 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28407409[PMID]","hgnc":"5009","ensembl":"ENSG00000149948","omim":"600698","loci":["12q14.3"]},{"symbol":"LEMD3","name":"LEM domain containing 3","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17220210[PMID]","hgnc":"28887","ensembl":"ENSG00000174106","omim":"607844","loci":["12q14.3"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"28407409[PMID]_29501611[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28407409[PMID]_29501611[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"22140081[PMID]_22987822[PMID_17220210[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010739","label":"Osteopoikilosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005288","label":"Abnormality of the nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}