{"orpha":436144,"name":"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436144/","orphanet_url":"https://www.orpha.net/en/disease/detail/436144","names":{"fr":{"name":"Syndrome de retard de croissance intra-utérin-petite taille-diabète de l'adulte jeune","definition":"Maladie endocrinienne génétique rare caractérisée par un retard de croissance intra-utérin ainsi qu'une faible poussée de croissance pubertaire. A l'âge adulte, les individus sont bien proportionnés, mais de petite taille, présentent une résistance à l'insuline et un diabète au début de l'âge adulte. Une subluxation de la cinquième articulation métacarpo-phalangienne associée à une absence de dysplasie métaphysaire ont été rapportées. La fertilité des individus est normale bien que le volume testiculaire soit diminué. À ce jour, aucune étude ne rapporte la présence d'une d'insuffisance surrénale primaire."},"de":{"name":"Intrauterine Wachstumsretardierung-Kleinwuchs-früh-adulter Diabetes-Syndrom","definition":"Eine seltene genetisch bedingte endokrine Erkrankung, die durch intrauterine Wachstumsretardierung, Fehlen eines Wachstumsschubs in der Adoleszenz mit proportionaler Kleinwüchsigkeit im Erwachsenenalter, Insulinresistenz und Diabetes im frühen Erwachsenenalter gekennzeichnet ist. Es wurde eine minimale Subluxation des fünften Mittelhandgelenks berichtet, während eine metaphysäre Dysplasie fehlt. Das Hodenvolumen ist gering, die Fertilität jedoch normal. Es gibt keinen Hinweis auf eine primäre Nebenniereninsuffizienz."},"es":{"name":"Síndrome de restricción del crecimiento intrauterino-talla baja-diabetes de inicio precoz en el adulto","definition":"Es una enfermedad endocrina de base genética poco frecuente caracterizada por restricción del crecimiento intrauterino, ausencia de un brote de crecimiento puberal con talla baja proporcionada en el adulto, resistencia a la insulina y diabetes de inicio precoz en la edad adulta. Se ha descrito una mínima subluxación de la quinta articulación metacarpofalángica en ausencia de displasia metafisaria. Se produce una reducción del volumen testicular pero la fertilidad no se ve afectada. No hay evidencia de insuficiencia suprarrenal primaria."},"it":{"name":"Sindrome ritardo della crescita prenatale-bassa statura-diabete a esordio nella prima età adulta","definition":"Si tratta di un'endocrinopatia genetica rara, caratterizzata da un ritardo della crescita prenatale, mancato scatto della crescita nell'adolescenza con statura adulta bassa proporzionata, resistenza all'insulina e diabete ad esordio nella prima età adulta. La malattia può associarsi ad una minima sublussazione della quinta articolazione metacarpo-falangea. I pazienti non presentano displasia metafisaria. Il volume dei testicoli è ridotto, ma la fertilità è normale. I pazienti non presentano insufficienza surrenale primitiva."},"nl":{"name":"Intra-uteriene groeiachterstand - kleine gestalte - diabetes met aanvang in de vroege volwassenheid-syndroom","definition":"Een zeldzame, genetische endocriene aandoening, gekarakteriseerd door intra-uteriene groeirestrictie, falen van adolescente groeispurt met proportioneel kleine gestalte in de volwassenheid, insulineresistentie, en diabetes met aanvang in de vroege volwassenheid. Minimale subluxatie van vijfde metacarpaal-falangeaal gewricht werd reeds gerapporteerd, terwijl metafysaire dysplasie afwezig is. Testiculair volume is laag, maar fertiliteit is normaal. Er is geen bewijs van primaire bijnierschorsinsufficiëntie."},"pt":{"name":"Síndrome de restrição de crescimento intrauterino-baixa estatura-diabetes com início no adulto"},"pl":{"name":"Zespół wewnątrzmacicznego zahamowania wzrosu płodu, niskiego wzrostu i cukrzycy"},"cs":{"name":"Syndrom zahrnující intrauterinní růstovou restrikci, malý vzrůst a diabetes s nástupem v časné dospělosti"},"uk":{"name":"Синдром внутрішньоутробної затримки росту-низькорослості-раннього дорослого діабету","definition":"A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency."},"zh":{"name":"宫内生长受限-身材矮小-成年早期糖尿病综合征"},"tr":{"name":"Rahim içi büyüme kısıtlaması-kısa boy-erken yetişkin başlangıçlı diyabet sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A44","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018573","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681180","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[],"genes":[{"symbol":"CDKN1C","name":"cyclin dependent kinase inhibitor 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25057881[PMID]","hgnc":"1786","ensembl":"ENSG00000129757","omim":"600856","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"25057881[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25057881[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-09","source":"25057881{PMID]","terms":[{"hpo":"HP:0008734","label":"Decreased testicular size","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}]}}