SAMD9 deficiency (OMIM #617053) is a genetic disorder caused by pathogenic variants in the SAMD9<\/em> gene. It is also known as MIRAGE syndrome, an acronym made up of the most frequently observed symptoms: M<\/strong>yelodysplasia, i<\/strong>nfection, r<\/strong>estriction of growth, a<\/strong>drenal hypoplasia, g<\/strong>enital abnormalities, and e<\/strong>nteropathy. In addition, numerous other abnormalities can occur in various organs. The disease is often fatal within the first decade of life, usually due to severe infections.<\/p>\n<\/div> Synonym:<\/p>\n<\/div><\/div><\/div> MIRAGE Syndrome<\/p>\n<\/div><\/div><\/div><\/div> Gene:<\/p>\n<\/div><\/div><\/div> SAMD9<\/em> (sterile alpha motif domain-containing protein-9 gene)<\/p>\n<\/div><\/div><\/div><\/div> Gen\u00ade product:<\/p>\n<\/div><\/div><\/div> SAMD9<\/p>\n<\/div><\/div><\/div><\/div> Function:<\/p>\n<\/div><\/div><\/div> Growth repressor<\/p>\n pathogenic variants of the SAMD9<\/i> gene lead to gain-of-function<\/p>\n<\/div><\/div><\/div><\/div> Pattern of inheritance:<\/p>\n<\/div><\/div><\/div> Autosomal dominant, mostly de novo<\/i> mutations<\/p>\n<\/div><\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> Unknown<\/p>\n<\/div><\/div><\/div><\/div> Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div> Very homogeneous phenotype in the patients diagnosed to date<\/p>\n<\/div><\/div><\/div><\/div> Penetrance:<\/p>\n<\/div><\/div><\/div> Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>