{"orpha":436182,"name":"Microcephalic primordial dwarfism-insulin resistance syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436182/","orphanet_url":"https://www.orpha.net/en/disease/detail/436182","names":{"fr":{"name":"Syndrome de nanisme microcéphalique primordial-résistance à l'insuline","definition":"Maladie génétique rare caractérisée par un retard de croissance prénatale et postnatale sévère, une petite taille, une microcéphalie, une dysmorphie faciale (y compris une petite mâchoire et une proéminence de la partie médio-faciale), une résistance sévère à l'insuline, une stéatose hépatique, une hypertriglycéridémie se développant dans l'enfance, et une insuffisance gonadique primaire. De légers troubles d'apprentissage et un acanthosis nigricans ont également été rapportés."},"de":{"name":"Mikrozephaler primordialer Kleinwuchs-Insulinresistenz-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch eine schwere prä- und postnatale Wachstumsstörung mit Kleinwuchs und Mikrozephalie, Gesichtsdysmorphie (einschließlich eines kleinen Kiefers und eines ausgeprägten Mittelgesichts), schwerer Insulinresistenz, Fettleber und Hypertriglyceridämie, die sich in der Kindheit entwickeln, sowie primärer Gonadeninsuffizienz gekennzeichnet ist. Leichte globale Lernschwierigkeiten und Acanthosis nigricans wurden ebenfalls berichtet."},"es":{"name":"Síndrome de talla baja significativa primordial microcefálica-resistencia a la insulina","synonyms":["Síndrome de enanismo primordial microcefálico-resistencia a la insulina"],"definition":"Es una enfermedad de base genética poco frecuente caracterizada por una grave restricción pre- y postnatal del crecimiento con talla baja y microcefalia, dismorfia facial (incluyendo micrognatia y prominencia del tercio medio facial), grave resistencia a la insulina, hígado graso e hipertrigliceridemia de desarrollo en la infancia e insuficiencia gonadal primaria. También se han descrito leves dificultades de aprendizaje global y acantosis nigricans."},"it":{"name":"Sindrome nanismo primordiale microcefalico-resistenza all'insulina","definition":"Si tratta di una malattia genetica rara caratterizzata da grave ritardo della crescita pre- e postnatale con bassa statura e microcefalia, dismorfismi facciali (ipoplasia della mascella e prominenza della porzione media del viso), grave resistenza all'insulina, steatosi epatica, ipertrigliceridemia ad esordio infantile e insufficienza gonadica primitiva. I pazienti possono presentare anche lievi difficoltà di apprendimento e acanthosis nigricans."},"nl":{"name":"Microcefale primordiale dwerggroei - insulineresistentie-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door ernstig pre- en postnataal groeifalen met kleine gestalte en microcefalie, faciale dysmorfie (waaronder kleine kaak en prominent middengezicht), ernstige insulineresistentie, leververvetting, hypertriglyceridemie die ontwikkelt in de kindertijd, en primair gonadaal falen. Mild algehele leerproblemen en acanthosis nigricans werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de nanismo primordial microcefálico-resistência à insulina"},"pl":{"name":"Zespół pierwotnej niskorosłości mikrocefalicznej i oporności na insulinę"},"cs":{"name":"Syndrom zahrnující primordiální trpaslictví, mikrocefalii a inzulinovou rezistenci"},"uk":{"name":"Синдром мікроцефальної первинної карликовості-інсулінорезистентності","definition":"A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported."},"zh":{"name":"小头原发性侏儒症-胰岛素抵抗综合征"},"tr":{"name":"Mikrosefalik primordiyal cücelik-insülin direnci sendromu"}},"xrefs":[{"source":"OMIM","code":"616541","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617253","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018575","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681181","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[],"genes":[{"symbol":"NSMCE2","name":"NSE2 SUMO ligase component of SMC5/6 complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25105364[PMID]","hgnc":"26513","ensembl":"ENSG00000156831","omim":"617246","loci":["8q24.13"]},{"symbol":"XRCC4","name":"X-ray repair cross complementing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25728776[PMID]","hgnc":"12831","ensembl":"ENSG00000152422","omim":"194363","loci":["5q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25105364 [PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25105364[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-08","source":"25105364[PMID]","terms":[{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010620","label":"Malar prominence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008890","label":"Severe short-limb dwarfism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007875","label":"Congenital blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}