Mirage Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

Genes related to Mirage Syndrome

SAMD9

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Clinical Features

Top most frequent phenotypes and symptoms related to Mirage Syndrome

Seizures
Global developmental delay
Short stature
Scoliosis
Cryptorchidism
Anemia
Motor delay
Intrauterine growth retardation
Talipes equinovarus
Hydrocephalus

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Mirage Syndrome Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome, myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome, myelodysplasia, infection, restriction of gr.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Mirage Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Inherited Bone Marrow Failure Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...) View the complete list with 41 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L, NHP2, NOP10, VPS45, RTEL1, HAX1, POT1, SBDS, BRIP1, FANCL, SBF2, FANCM, SLX4, CSF3R, G6PC3, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MPL, PARN, RAD51C, RBM8A Specificity 2 % Genes 100 %
Comprehensive Hereditary Cancer Panel. By Genetic Services Laboratory University of Chicago (United States). RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SRP72, STK11, EPCAM, TERC, TERT, TP53, VHL, IKZF1, SAMD9, SAMD9L, CBL , (...) View the complete list with 33 more genes Panel complete gene list RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SRP72, STK11, EPCAM, TERC, TERT, TP53, VHL, IKZF1, SAMD9, SAMD9L, CBL, RTEL1, CDH1, CDK4, CDKN2A, CEBPA, DDX41, BRIP1, SDHAF2, TMEM127, PALB2, ANKRD26, ETV6, FH, GATA2, APC, SMAD4, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PAX5, PMS2, POLD1, POLE, BAP1, PTEN, PTPN11, RET Specificity 2 % Genes 100 %
Hereditary Leukemia and Breast Cancer Panel. By Genetic Services Laboratory University of Chicago (United States). RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TP53, IKZF1, SAMD9, SAMD9L, CBL, RTEL1, CDH1, CEBPA, DDX41, PALB2, ANKRD26, ETV6, GATA2 , (...) View the complete list with 10 more genes Panel complete gene list RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TP53, IKZF1, SAMD9, SAMD9L, CBL, RTEL1, CDH1, CEBPA, DDX41, PALB2, ANKRD26, ETV6, GATA2, MLH1, MSH2, MSH6, NBN, NF1, ATM, PAX5, PMS2, PTEN, PTPN11 Specificity 4 % Genes 100 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL). By Genetic Services Laboratory University of Chicago (United States). RUNX1, SRP72, TERC, TERT, TP53, IKZF1, SAMD9, SAMD9L, RTEL1, CEBPA, DDX41, ANKRD26, ETV6, GATA2, PAX5 Specificity 7 % Genes 100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...) View the complete list with 58 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS, IKZF1, SAMD9, SAMD9L, NHP2, NOP10, VPS45, CBL, RTEL1, HAX1, POT1, CEBPA, SBDS, BRIP1, FANCL, SBF2, SLX4, CSF3R, G6PC3, UBE2T, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ANKRD26, ELANE, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MLH1, MPL, MSH2, MSH6, NBN, NF1, ATM, PARN, PAX5, PMS2, PTPN11, RAD51, RAD51C, RBM8A Specificity 2 % Genes 100 %
SAMD9. By Fulgent Genetics Fulgent Genetics (United States). SAMD9 Specificity 100 % Genes 100 %
Primary Immunodeficiency Panel. By Blueprint Genetics (Finland). RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...) View the complete list with 253 more genes Panel complete gene list RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1, TCF3, TCN2, TERC, TERT, TFRC, THBD, TINF2, TNFAIP3, TNFRSF1A, TNFRSF4, CD40, FAS, CD27, CD40LG, FASLG, CD70, TREX1, SERPING1, ACP5, C1QA, C1QB, TYK2, C1QC, C1S, C2, UNG, USP18, WAS, WIPF1, WDR1, FOXN1, ZAP70, IKZF1, C3, ACTB, AICDA, BCL11B, TRAF3IP2, SAMD9, UNC93B1, SAMD9L, BACH2, BLNK, MRTFA, NLRP1, NHP2, NOP10, LPIN2, VPS45, CDCA7, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, RNF31, CD19, CARD9, CARD11, NLRP3, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, CD59, HAX1, HYOU1, CD79A, CD79B, CD81, CD8A, NCSTN, COLEC11, TRNT1, LRBA, DCLRE1B, DCLRE1C, IRAK4, TMC6, TNFRSF13B, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, CFTR, IFIH1, LAT, DDX58, DOCK8, SBDS, ADAM17, LYST, TTC7A, SLC35C1, CLCN7, TMC8, CHD7, ZBTB24, IRF2BP2, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF2RB, CSF3R, G6PC3, MOGS, CTLA4, ACD, OTULIN, CTPS1, CTSC, WRAP53, CXCR4, OFD1, RNASEH2B, NHEJ1, CYBA, CYBB, USB1, ORAI1, CTC1, CD55, RNF168, ERCC6L2, JAGN1, DNAJC21, CARMIL2, CFD, TMEM173, DGKE, MAGT1, DKC1, GINS1, EPG5, DNMT3B, LAMTOR2, DOCK2, PSENEN, SLC46A1, CLPB, ELANE, RNU4ATAC, EXTL3, FADD, AIRE, AK2, ISG15, G6PD, SLC37A4, GATA2, GFI1, TAP1, TAP2, HELLS, CFH, NOD2, ICOS, IRF8, CFI, SP110, IFNAR2, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, ITGB2, ITK, JAK1, JAK3, KRAS, RPSA, LCK, LIG4, MALT1, MAP3K14, RHOH, MASP1, CD46, MEFV, ARPC1B, CIITA, MRE11, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NSMCE3, NFKB1, NFKB2, NFKBIA, PNP, ATM, NRAS, PARN, PEPD, CFP, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PMS2, POLE, POLE2, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, BCL10, RECQL4, RFX5, RFXANK, RFXAP Specificity 1 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics (Finland). RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...) View the complete list with 218 more genes Panel complete gene list RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF, BRCA1, BRCA2, SMARCD2, SOS1, SPTA1, SPTB, SRC, SRP72, STX11, STXBP2, EPCAM, TBXA2R, TCN2, TERC, TERT, TF, THBD, THPO, TINF2, FAS, FASLG, TP53, TPI1, EGLN1, TYR, TYRP1, VWF, WAS, WIPF1, WDR1, XRCC2, IKZF1, ACTB, SAMD9, SAMD9L, ADAMTS13, ABCG5, ABCG8, MRTFA, NHP2, NOP10, LPIN2, VPS45, AMN, CBL, PUS1, HPS3, HPS4, RTEL1, TUBB1, ACTN1, SLC45A2, TMPRSS6, HAX1, HPS5, CDAN1, DTNBP1, TRNT1, DCLRE1B, NT5C3A, CDKN2A, P2RY12, CEBPA, MCFD2, DDX41, HPS6, MASTL, SBDS, LYST, CYCS, GPR143, CLCN7, BRIP1, FANCL, BLOC1S3, PDHX, VPS13B, UNC13D, FANCM, VKORC1, SLX4, YARS2, CSF2RA, CSF3R, G6PC3, ACD, CTSC, CUBN, WRAP53, FANCI, CXCR4, USB1, SLC25A38, PALB2, CTC1, RNF168, ERCC6L2, JAGN1, C15orf41, DNAJC21, DHFR, CYB5R3, MAGT1, DKC1, GINS1, PIEZO1, ANKRD26, LAMTOR2, SLC46A1, CLPB, NBEAL2, SLFN14, ABCA3, ELANE, EPAS1, EPB41, EPB42, EPOR, ERCC4, ETV6, MECOM, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, AK2, FGA, FGB, FGG, FLI1, FLNA, ALAS2, FYB1, G6PD, SLC37A4, GATA1, GATA2, GFI1, GFI1B, GGCX, GP1BA, GP1BB, GP9, GPI, GSS, ABCB7, HBA1, HBA2, HBB, HFE, ANK1, HOXA11, HPS1, HRAS, IFNGR2, AP3B1, AP3D1, XIAP, ITGA2, ITGA2B, ITGB3, ITK, JAK2, KLF1, KRAS, LMAN1, MAP2K1, MAP2K2, ARPC1B, MLH1, MPL, MSH2, MSH6, MTHFD1, MTR, MYH9, MYO5A, NBN, SERPINC1, NF1, ATM, NRAS, OCA2, BLOC1S6, PARN, PAX5, PC, PDHA1, ATR, ATRX, PGM3, PKLR, PMS2, PRF1, PRKACG, PROC, PROS1, PTPN11, RAB27A, RAC2, RAD51C, RBM8A, RECQL4, REN Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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