Table 3.

Genes of Interest in the Differential Diagnosis of MIRAGE Syndrome

GeneDiffDx DisorderMOIFeatures of MIRAGE Syndrome
Also observed in DiffDx disorderNot observed in DiffDx disorder
AAAS Triple A syndrome (OMIM 231550)ARPrimary adrenal insufficiency, achalasia, alacrimaHematologic abnormalities, recurrent infections, growth restriction, genital problems, diarrhea
CDKN1C IMAGe syndrome AD 1IUGR, adrenal hypoplasia, genital anomaliesHematologic abnormalities, recurrent infections, diarrhea
GATA2 GATA2 deficiency 2, 3ADCytopenias, MDS w/monosomy 7, immunodeficiency, infections, genital anomaliesAdrenal hypoplasia, growth restriction, diarrhea
POLE IMAGe-I (OMIM 618336)ARIUGR, adrenal hypoplasia, genital anomalies, immunodeficiencyHematologic abnormalities, diarrhea
SAMD9L SAMD9L ataxia-pancytopenia syndrome 3ADCytopenias, MDS w/monosomy 7, immunodeficiency, infectionsAdrenal hypoplasia, growth restriction, diarrhea, genital anomalies

AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; IMAGe-I = intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency; IUGR = intrauterine growth restriction; MDS = myelodysplastic syndrome; MOI = mode of inheritance

1.

A CDKN1C pathogenic variant causing IMAGe syndrome is typically inherited in an autosomal dominant manner; however, only maternal transmission of the pathogenic variant results in IMAGe syndrome.

2.
3.

From: MIRAGE Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.