{"orpha":293964,"name":"Hypoinsulinemic hypoglycemia and body hemihypertrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293964/","orphanet_url":"https://www.orpha.net/en/disease/detail/293964","names":{"fr":{"name":"Hypoglycémie hypoinsulinémique avec hémihypertrophie du corps","definition":"Maladie endocrinienne rare d'origine génétique caractérisée par une macrosomie néonatale, une croissance asymétrique (se manifestant typiquement par une hémihypertrophie du côté gauche) et une hypoglycémie hypoinsulinémique (ou hypocétosique avec de faibles taux d'acides gras) sévère et récurrente dans la petite enfance, qui entraîne des épisodes de perte de connaissance et des crises d'épilepsie."},"de":{"name":"Hypoinsulinämische Hypoglykämie - Hemihypertrophie"},"es":{"name":"Hipoglucemia hipoinsulinémica y hemihipertrofia corporal","definition":"La hipoglucemia hipoinsulinémica y hemihipertrofia corporal es una enfermedad endocrina, genética y poco frecuente caracterizada por macrosomía neonatal, crecimiento asimétrico excesivo (que se manifiesta típicamente como hemihipertrofia izquierda) e hipoglucemia hipoinsulinémica (o acidemia hipocetósica con ácidos grasos bajos) grave y recurrente en la lactancia, que da lugar episodios de nivel de conciencia reducida y crisis."},"it":{"name":"Ipoglicemia ipoinsulinemica ed emi-ipertrofia del corpo","definition":"L'ipoglicemia ipoinsulinemica associata ad emi-ipertrofia del corpo è un'endocrinopatia genetica rara, caratterizzata da macrosomia neonatale, iperaccrescimento asimmetrico (che di solito di manifesta sotto forma di emi-ipertrofia del lato sinistro) e grave ipoglicemia ipoinsulinemica (o ipochetotica con livelli bassi di acidi grassi), ricorrente nella prima infanzia, con conseguenti episodi di riduzione della coscienza e crisi epilettiche."},"nl":{"name":"Hypo-insulinemische hypoglycemie en hemihypertrofie van lichaam","definition":"Hypoinsulinemische hypoglycemie en hemihypertrofie van het lichaam is een zeldzame, genetische, endocriene ziekte die gekarakteriseerd wordt door neonatale macrosomie, asymmetrische overgroei (die zich typisch manifesteert als linkszijdige hemihypertrofie) en recurrente, ernstige hypoinsulinemische (of hypoketotische hypo-vetzuur-acidemische) hypoglycemie in de zuigelingentijd, met episodes van verminderd bewustzijn en insulten tot gevolg."},"pt":{"name":"Hipoglicemia hipoinsulinémica e hemihipertrofia corporal"},"pl":{"name":"Hipoglikemia hipoinsulinemiczna i połowiczy przerost ciała","definition":"*Hipoglikemia hipoinsulinemiczna i połowiczy przerost ciała to rzadka, genetycznie uwarunkowana choroba endokrynologiczna, która charakteryzuje się makrosomią noworodków, asymetrycznym przerostem (zwykle jest to lewostronny przerost połowiczy) oraz nawracającą, ciężką hipoglikemią hipoinsulinemiczną lub hipoketotyczną z niskim poziomem kwasów tłuszczowych, występującą w okresie niemowlęcym i prowadzącą do epizodów pogorszenia świadomości i drgawek."},"cs":{"name":"Hypoinzulinemická hypoglykémie a hemihypertrofie těla"},"uk":{"name":"Гіпоінсулінемічна гіпоглікемія та гемігіпертрофія тіла","definition":"Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures."},"zh":{"name":"低胰岛素型低血糖和偏身肥大","definition":"低胰岛素型低血糖症伴偏身肥大是一种罕见的遗传性内分泌疾病，其特征是巨大儿、不对称过度生长（通常表现为左侧偏身肥大）和婴儿期反复出现重度低胰岛素性（或低酮性低脂血症）低血糖，本病可导致意识减弱和惊厥发作。"},"tr":{"name":"Hipoinsülinemik hipoglisemi ve vücut hemihipertrofisi"}},"xrefs":[{"source":"OMIM","code":"240900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E16.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009416","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751124","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":97978,"name":"Rare endocrine disease","classifications":[193]},{"orpha":156638,"name":"Rare genetic endocrine disease","classifications":[156]}],"children":[],"genes":[{"symbol":"AKT2","name":"AKT serine/threonine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21979934[PMID]_24285683[PMID]","hgnc":"392","ensembl":"ENSG00000105221","omim":"164731","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"14764948[PMID]_21979934[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-26","source":"21979934[PMID]_13952653[PMID]_14764948[PMID]","terms":[{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040214","label":"Abnormal circulating insulin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030812","label":"Enlarged tonsils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001325","label":"Hypoglycemic coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006568","label":"Increased hepatic glycogen content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001958","label":"Nonketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0030781","label":"Increased circulating free fatty acid level","frequency":"Excluded (0%)","criteria":null}]}}