{"orpha":494433,"name":"MIRAGE syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome","Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome"],"definition":"A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494433/","orphanet_url":"https://www.orpha.net/en/disease/detail/494433","names":{"fr":{"name":"Syndrome MIRAGE","synonyms":["Syndrome de myélodysplasie-infections-retard de croisance-hypoplasie surrénalienne-anomalies génitales-entéropathie"],"definition":"Maladie génétique rare caractérisée par un retard de croissance pré- et post-natale, un retard de développement, une hypoplasie surrénalienne, des anomalies génitales (micropénis, hypospadias ou cryptorchidie), une thrombocytopénie et/ou une anémie, des infections récurrentes invasives et sévères et une entéropathie avec diarrhée chronique. Un syndrome myélodysplasique et une dysmorphie (fentes palpébrales inclinées vers le bas, oreilles d'implantation basse et orientées vers l'arrière, narines antéversées, camptodactylie et arachnodactylie, entre autres) peuvent également s'observer."},"de":{"name":"MIRAGE-Syndrom","synonyms":["Myelodysplasie-Infektion-Wachstumsbeschränkung-Nebennierenhypoplasie-Genitalanomalien-Enteropathie-Syndrom","Myelodysplasie-Infektion-Wachstumsrestriktion-Nebennierenhypoplasie-Genitalphänotypen-Enteropathie-Syndrom"],"definition":"Eine seltene genetische Störung mit prä- und postnataler Wachstums- und Entwicklungsverzögerung, Nebennierenhypoplasie, Genitalanomalien (z. B. Mikrophallus, Hypospadie oder Kryptorchismus), Thrombozytopenie und/oder Anämie, wiederkehrenden schweren invasiven Infektionen und Enteropathie mit chronischer Diarrhoe. Weitere Merkmale umfassen myelodysplastische Syndrome sowie dysmorphe Merkmale (z. B. schräg nach unten verlaufende Lidspalten, tief angesetzte und nach hinten gedrehte Ohren, antevertierte Nasenlöcher, Kamptodaktylie und Arachnodaktylie)."},"es":{"name":"Síndrome MIRAGE","synonyms":["Síndrome de mielodisplasia-infección-restricción del crecimiento-hipoplasia suprarrenal-anomalías genitales-enteropatía","Síndrome de mielodisplasia-infección-restricción del crecimiento-hipoplasia suprarrenal-fenotipos genitales-enteropatía"],"definition":"Es una enfermedad genética poco frecuente caracterizada por una restricción del crecimiento pre- y postnatal, retraso del desarrollo, hipoplasia suprarrenal, anomalías genitales (como microfalo, hipospadias o criptorquidia), trombocitopenia y/o anemia, infecciones invasivas graves recurrentes y enteropatía con diarrea crónica. También puede observarse un síndrome mielodisplásico y rasgos dismórficos (como fisuras palpebrales descendentes, orejas de implantación baja y con rotación posterior, narinas antevertidas, camptodactilia y aracnodactilia, entre otros)."},"it":{"name":"Sindrome MIRAGE","definition":"Si tratta di una malattia genetica rara caratterizzata da ritardo di crescita pre- e postnatale, ritardo dello sviluppo, ipoplasia surrenale, anomalie dei genitali (micropene, ipospadia, criptorchidismo), trombocitopenia e/o anemia, infezioni invasive gravi ricorrenti, ed enteropatia con diarrea cronica. Può associarsi alla sindrome mielodisplastica e a dismorfismi (rime palpebrali oblique verso il basso, orecchie a basso impianto ruotate posteriormente, narici anteverse, camptodattilia e aracnodattilia)."},"nl":{"name":"MIRAGE-syndroom","synonyms":["Myelodysplasie - infectie - groeirestrictie - adrenale hypoplasie - genitale fenotypes - enteropathie-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door pre- en postnatale groeirestrictie, ontwikkelingsachterstand, hypoplasie van bijnier, genitale afwijkingen (zoals micropenis, hypospadie, of cryptorchisme), trombocytopenie en/of anemie, recidiverende ernstige invasieve infecties, en enteropathie met chronische diarree. Myelodysplastisch syndroom en dysmorfe kenmerken (waaronder schuin naar beneden hellende ooglidspleten, laagstaande en naar achteren gedraaide oren, anteversie van de neusgaten, camptodactylie, en arachnodactylie) worden mogelijk ook waargenomen."},"pt":{"name":"Síndrome MIRAGE","synonyms":["Síndrome de mielodisplasia-infeção-restrição de crescimento-hipoplasia supra-renal-anomalias genitais-enteropatia","Síndrome de mielodisplasia-infeção-restrição de crescimento-hipoplasia supra-renal-fenótipos genitais-enteropatia"]},"pl":{"name":"Zespół MIRAGE","synonyms":["Zespół mielodysplazji, infekcji, zahamowania wzrastania, hipoplazji nadnerczy, wad narządów płciowych zewnętrznych i enteropatii"]},"cs":{"name":"Syndrom MIRAGE","synonyms":["Syndrom zahrnující myelodysplázii, časté infekty, omezení růstu, adrenální hypoplázii, dysgenezi genitálu a enteropatii"]},"uk":{"name":"Синдром MIRAGE","synonyms":["Синдром мієлодисплазії-інфекції-обмеження росту-гіпоплазії надниркових залоз-генітальних аномалій- ентеропатії","Синдром мієлодисплазії-інфекції-обмеження росту-гіпоплазії надниркових залоз-генітальних фенотипів- ентеропатії"],"definition":"A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed."},"zh":{"name":"MIRAGE综合征","synonyms":["骨髓增生异常-感染-生长受限-肾上腺功能减退-生殖器表型-肠病综合征"]},"tr":{"name":"MIRAGE sendromu","synonyms":["Miyelodisplazi-enfeksiyon-büyüme restriksiyonu-adrenal hipoplazi-genital anomaliler-enteropati sendromu","Miyelodisplazi-enfeksiyon-büyüme restriksiyonu-adrenal hipoplazi-genital fenotipler-enteropati sendromu"]}},"xrefs":[{"source":"OMIM","code":"617053","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D46.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A70.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014888","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4284088","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13108","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":595337,"name":"Adrenal hypoplasia congenita","classifications":[156,193]},{"orpha":181412,"name":"Adrenogenital syndrome","classifications":[156,193]},{"orpha":156643,"name":"Genetic endocrine growth disease","classifications":[156]},{"orpha":728475,"name":"Inherited bone marrow failure disorder with immune defect","classifications":[156,195]},{"orpha":90692,"name":"Rare endocrine growth disease","classifications":[193]},{"orpha":717877,"name":"Rare miscellaneous disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]}],"children":[],"genes":[{"symbol":"SAMD9","name":"sterile alpha motif domain containing 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27182967[PMID]","hgnc":"1348","ensembl":"ENSG00000205413","omim":"610456","loci":["7q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"27182967[PMID]_28346228[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27182967[PMID]_28346228[PMID]"}],"phenotypes":null}