{"orpha":2128,"name":"Isolated hemihyperplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Hemi 3 syndrome","Hemicorporal hypertrophy","Isolated hemihypertrophy"],"definition":"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2128/","orphanet_url":"https://www.orpha.net/en/disease/detail/2128","names":{"fr":{"name":"Hémihyperplasie isolée","synonyms":["Hypertrophie hémicorporelle","Hémihypertrophie isolée","Syndrome hémi 3"],"definition":"Syndrome rare avec croissance excessive caractérisé par une croissance excessive et asymétrique des régions du corps affectant au moins un membre, associé à un risque accru de développer des tumeurs embryonnaires, principalement des néphroblastomes et des hépoblastomes."},"de":{"name":"Hemihyperplasie, isolierte","synonyms":["Hemi 3-Syndrom","Hemihypertrophie, isolierte"],"definition":"Die isolierte Hemihyperplasie ist ein seltenes Großwuchssyndrom, das durch übermäßiges asymmetrisches regionales Körperwachstum gekennzeichnet ist, an der mindestens eine Extremität beteiligt ist. Dieses Syndrom ist mit einem erhöhten Risiko für die Entwicklung embryonaler Tumore (hauptsächlich Nephroblastom (s. dort) und Hepoblastom) verbunden."},"es":{"name":"Hemihiperplasia aislada","synonyms":["Hemihipertrofia aislada","Hipertrofia hemicorporal","Síndrome hemi 3"],"definition":"La hemihiperplasia aislada es un síndrome raro de sobrecrecimiento caracterizado por sobrecrecimiento corporal regional asimétrico que incluye al menos una extremidad. Se asocia con un riesgo incrementado de desarrollar tumores embrionarios, principalmente nefroblastoma (ver este término) y hepatoblastoma."},"it":{"name":"Emi-iperplasia isolata","synonyms":["Emi-ipertrofia isolata","Ipertrofia dell'emicorpo","Sindrome emi 3"],"definition":"L'emi-iperplasia isolata è una sindrome rara da eccessiva crescita, caratterizzata iperaccrescimento localizzato ed asimmetrico del corpo, che interessa almeno un arto; si associa a un aumento del rischio di tumori embrionali, in particolare i nefroblastomi (si veda questo termine) e gli epatoblastomi."},"nl":{"name":"Geïsoleerde hemihyperplasie","synonyms":["Geïsoleerde hemihypertrofie","Hemi 3-syndroom","Hemicorporale hypertrofie"],"definition":"Hemicorporale hypertrofie is een zeldzaam overmatige groeisyndroom dat gekenmerkt wordt door een asymmetrische, regionale overmatige lichaamsgroei waarbij ten minste een ledemaat betrokken is, en geassocieerd wordt met een verhoogd risico op de ontwikkeling van embryonale tumoren, voornamelijk nefroblastoom (zie deze term) en hepatoblastoom."},"pt":{"name":"Hemihiperplasia isolada","synonyms":["Síndrome Hemi 3"]},"pl":{"name":"Izolowany przerost połowiczy","synonyms":["Izolowana hemihipertrofia","Przerost połowy ciała","Zespół Hemi 3"]},"cs":{"name":"Izolovaná hemihyperplázie","synonyms":["Hemi-3-syndrom","Hemikorporální hypertrofie","Izolovaná hemihypertrofie"]},"uk":{"name":"Ізольована гемігіперплазія","synonyms":["Синдром Hemi 3","Гемокорпоральна гіпертрофія","Ізольована гемігіпертрофія"],"definition":"Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma."},"zh":{"name":"孤立型偏侧发育过度","synonyms":["孤立型偏身肥大症"]},"tr":{"name":"İzole hemihiperplazi","synonyms":["Hemi 3 sendromu","Hemicorporal hipertrofi","İzole hemihipertrofi"]}},"xrefs":[{"source":"OMIM","code":"235000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"116353458"},{"source":"MONDO","code":"0009331","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565524","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856184","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2630","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019463","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156207,"name":"Macroglossia","classifications":[147,156,209]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]}],"children":[],"genes":[{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15651076[PMID]_16532391[PMID]_18159214[PMID]","hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"]},{"symbol":"IGF2","name":"insulin like growth factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18159214[PMID]","hgnc":"5466","ensembl":"ENSG00000167244","omim":"147470","loci":["11p15.5"]},{"symbol":"KCNQ1OT1","name":"KCNQ1 opposite strand/antisense transcript 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15651076[PMID]_16770802[PMID]","hgnc":"6295","ensembl":"ENSG00000269821","omim":"604115","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Worldwide","status":"Validated","source":"30645194[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Worldwide","status":"Validated","source":"30645194[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001555","label":"Asymmetry of the thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Occasional (29-5%)","criteria":null}]}}