{"orpha":508,"name":"Donohue syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A subtype of <i>INSR</i>-related severe insulin resistance characterized by severe intrauterine growth retardation, postnatal failure to thrive, dysmorphic features, extreme insulin resistance, fluctuating blood glucose levels. The life expectancy is very short, with death usually occurring during infancy due to metabolic complications, cardiomyopathy and/or infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508/","orphanet_url":"https://www.orpha.net/en/disease/detail/508","names":{"fr":{"name":"Syndrome de Donohue","definition":"Sous-type d'insulinorésistance sévère lié à l'<i>INSR</i> caractérisé par un retard sévère de croissance intra-utérin, un retard postnatal de croissance staturo-pondérale, une dysmorphie, une insulinorésistance extrême et des taux de glycémie fluctuants. L'espérance de vie est très courte, le décès survenant généralement pendant la petite enfance en raison de complications métaboliques, d'une cardiomyopathie et/ou d'infections."},"de":{"name":"Donohue-Syndrom","definition":"Eine Unterform der <i>INSR</i>-assoziierten Insulinresistenz, die durch schwere intrauterine Wachstumsverzögerung, postnatale Gedeihstörungen, dysmorphe Merkmale, extreme Insulinresistenz und schwankende Blutzuckerwerte gekennzeichnet ist. Die Lebenserwartung ist sehr gering, der Tod tritt in der Regel im Säuglingsalter aufgrund von Stoffwechselkomplikationen, Kardiomyopathie und/oder Infektionen ein."},"es":{"name":"Síndrome de Donohue","definition":"Es un subtipo de resistencia grave a la insulina asociada al gen <i>INSR</i>, que se caracteriza por retraso grave del crecimiento intrauterino y posnatal, rasgos dismórficos, resistencia extrema a la insulina y niveles fluctuantes de glucosa en sangre. La esperanza de vida es muy corta, y el fallecimiento suele ocurrir en el periodo de lactante debido a complicaciones metabólicas, miocardiopatía o infecciones."},"it":{"name":"Sindrome di Donohue","definition":"Il leprecaunismo è una malattia congenita molto rara da insulino-resistenza estrema (un gruppo di sindromi che comprende anche la sindrome di Rabson-Mensenhall, la sindrome da insulino-resistenza tipo A e la sindrome da insulino-resistenza tipo B acquisita; si vedano questi termini), che è caratterizzata da grave ritardo della crescita prenatale, che si accentua nella vita postnatale."},"nl":{"name":"Syndroom van Donohue","synonyms":["Leprechaunisme"],"definition":"Een subtype van<i>INSR</i>-gerelateerde ernstige insulineresistentie, gekenmerkt door ernstige intra-uteriene groeiretardatie,, postnataal niet-gedijen, dysmorfe kenmerken, extreme insulineresistentie, en fluctuerende glucosegehaltes in het bloed. De levensverwachting is zeer kort; overlijden treedt meestal op in de zuigelingentijd als gevolg van metabole complicaties, cardiomyopathie en/of infecties."},"pt":{"name":"Leprechaunismo","synonyms":["Síndrome Donohue"]},"pl":{"name":"Leprechaunizm","synonyms":["Zespół Donohue"]},"cs":{"name":"Leprechaunismus","synonyms":["Donohueova nemoc"]},"uk":{"name":"Лепреконізм","synonyms":["Синдром Донохью"],"definition":"Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation."},"zh":{"name":"矮妖综合征","synonyms":["Donohue综合征"]},"tr":{"name":"Leprekonizm","synonyms":["Donohue sendromu"]}},"xrefs":[{"source":"OMIM","code":"246200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"5A44","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"620744510"},{"source":"MONDO","code":"0009517","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056731","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265344","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081896","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[],"genes":[{"symbol":"INSR","name":"insulin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12023989[PMID]","hgnc":"6091","ensembl":"ENSG00000171105","omim":"147670","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"9128805[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0006,"area":"Worldwide","status":"Validated","source":"38773407[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-13","source":"29369573[PMID]_31840185[PMID]_29148123[PMID]","terms":[{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011998","label":"Postprandial hyperglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002219","label":"Facial hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000065","label":"Labial hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003247","label":"Overgrowth of external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004405","label":"Prominent nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004914","label":"Recurrent infantile hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100879","label":"Enlarged ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025024","label":"Megarectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}