Mirage Syndrome (MIRAGE)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Mirage Syndrome

MalaCards integrated aliases for Mirage Syndrome:

Name: Mirage Syndrome 56 52 58 73 29 6
Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy 56 52 73
Bone Marrow Diseases 43 71
Mirage 56 73
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Phenotypes-Enteropathy Syndrome 58
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Anomalies-Enteropathy Syndrome 58



autosomal dominant

one 46,xy individual exhibited female external genitalia at birth and was designated female
mosaic monosomy 7 was observed in 2 patients, who both developed myelodysplastic syndrome and died from the complication


mirage syndrome:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis

Summaries for Mirage Syndrome

NIH Rare Diseases : 52 MIRAGE syndrome is a condition characterized by Myelodysplasia , Infection, Restriction of growth, Adrenal hypoplasia , Genital problems, and Enteropathy (intestinal problems). It was originally described in 11 patients who had growth restriction, intellectual disability , developmental delay , adrenal insufficiency resulting in skin hyperpigmentation, symptoms of salt loss, poorly developed and abnormal genitalia (small penis, absence of one or both testes from the scrotum (cryptorchidism ) and the urethral opening in the underside of the penis (hypospadias ). All patients had low platelet numbers (thrombocytopenia ) and/or anemia . MIRAGE syndrome is caused by a change (mutation ) in the SAMD9 gene . In the cases described there was no description of a specific treatment but the symptoms should be managed based on presentation.

MalaCards based summary : Mirage Syndrome, also known as myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, is related to pancytopenia and myelodysplastic syndrome. An important gene associated with Mirage Syndrome is SAMD9 (Sterile Alpha Motif Domain Containing 9). The drugs Azacitidine and Zoledronic Acid have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and breast, and related phenotypes are hydrocephalus and myelodysplasia

OMIM : 56 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). (617053)

UniProtKB/Swiss-Prot : 73 MIRAGE syndrome: A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.

Wikipedia : 74 The following is a list of fictional characters from the 2004 Disney/Pixar computer-animated superhero... more...

Related Diseases for Mirage Syndrome

Diseases related to Mirage Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 pancytopenia 29.0 SAMD9 EPO
2 myelodysplastic syndrome 28.7 SAMD9 EPO
3 polycythemia 11.4
4 spinal cord disease 11.4
5 alzheimer disease 10.4
6 sleep disorder 10.2
7 acute pancreatitis 10.1
8 cerebrovascular disease 10.1
9 infantile apnea 10.1
10 new-onset refractory status epilepticus 10.1
11 aplastic anemia 10.0
12 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
13 neuroblastoma 10.0
14 polycythemia vera 9.9
15 thrombocytopenia 9.9
16 gastroesophageal reflux 9.9
17 ataxia-pancytopenia syndrome 9.9
18 cryptorchidism, unilateral or bilateral 9.9
19 enterocolitis 9.9
20 ataxia and polyneuropathy, adult-onset 9.9
21 46,xy sex reversal 3 9.9
22 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.9
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
24 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
25 aspiration pneumonia 9.9
26 cerebellar hypoplasia 9.9
27 metaphyseal dysplasia 9.9
28 microcephaly 9.9
29 hydrocephalus 9.9
30 disorders of sexual development 9.9
31 pneumonia 9.9
32 perinatal necrotizing enterocolitis 9.9
33 achalasia 9.9
34 polymicrogyria 9.9
35 samd9l-related ataxia-pancytopenia syndrome 9.9
36 dysautonomia 9.9
37 syndrome with 46,xy disorder of sex development 9.9
38 acute adrenal insufficiency 9.9
39 primary adrenal insufficiency 9.9
40 amyotrophic lateral sclerosis 1 9.9
41 breast cancer 9.9
42 colorectal cancer 9.9
43 cardiac conduction defect 9.9
44 huntington disease 9.9
45 renal cell carcinoma, nonpapillary 9.9
46 leukemia, chronic lymphocytic 9.9
47 systemic lupus erythematosus 9.9
48 prostate cancer 9.9
49 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
50 gallbladder disease 1 9.9

Graphical network of the top 20 diseases related to Mirage Syndrome:

Diseases related to Mirage Syndrome

Symptoms & Phenotypes for Mirage Syndrome

Human phenotypes related to Mirage Syndrome:

31 (show all 40)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 occasional (7.5%) HP:0000238
2 myelodysplasia 31 occasional (7.5%) HP:0002863
3 achalasia 31 occasional (7.5%) HP:0002571
4 intracranial hemorrhage 31 occasional (7.5%) HP:0002170
5 paraplegia 31 occasional (7.5%) HP:0010550
6 leukopenia 31 occasional (7.5%) HP:0001882
7 esophageal stricture 31 occasional (7.5%) HP:0002043
8 hypoplastic spleen 31 occasional (7.5%) HP:0006270
9 seizure 31 occasional (7.5%) HP:0001250
10 global developmental delay 31 HP:0001263
11 scoliosis 31 HP:0002650
12 short stature 31 HP:0004322
13 gastroesophageal reflux 31 HP:0002020
14 hypoglycemia 31 HP:0001943
15 anemia 31 HP:0001903
16 recurrent urinary tract infections 31 HP:0000010
17 cryptorchidism 31 HP:0000028
18 intrauterine growth retardation 31 HP:0001511
19 thrombocytopenia 31 HP:0001873
20 motor delay 31 HP:0001270
21 talipes equinovarus 31 HP:0001762
22 lymphopenia 31 HP:0001888
23 patent ductus arteriosus 31 HP:0001643
24 hyponatremia 31 HP:0002902
25 hypospadias 31 HP:0000047
26 chronic diarrhea 31 HP:0002028
27 sepsis 31 HP:0100806
28 petechiae 31 HP:0000967
29 hyperkalemia 31 HP:0002153
30 decreased body weight 31 HP:0004325
31 decreased testicular size 31 HP:0008734
32 hypergonadotropic hypogonadism 31 HP:0000815
33 shawl scrotum 31 HP:0000049
34 overlapping fingers 31 HP:0010557
35 rocker bottom foot 31 HP:0001838
36 aspiration pneumonia 31 HP:0011951
37 radial club hand 31 HP:0004059
38 adrenal insufficiency 31 HP:0000846
39 recurrent bacterial infections 31 HP:0002718
40 microphallus 31 HP:0030260

Symptoms via clinical synopsis from OMIM:

Growth Height:
short stature

Laboratory Abnormalities:
elevated c-reactive protein, persistent
markedly elevated serum ferritin (rare)

Neurologic Central Nervous System:
motor delay
developmental delay
seizures (rare)
hydrocephalus (rare)
limited or no speech (in some patients)
Genitourinary External Genitalia Male:
bifid shawl scrotum

Skin Nails Hair Skin:
generalized skin pigmentation

Endocrine Features:
adrenal insufficiency
low serum cortisol
primary hypogonadism
adrenal gland hypoplasia/aplasia
elevated plasma corticotropin
Growth Weight:
low weight

urinary tract infections, recurrent

Head And Neck Neck:
hypoplastic or absent thymus

Abdomen Spleen:
hypoplastic spleen (rare)

Skeletal Spine:
scoliosis, congenital

Prenatal Manifestations Delivery:
preterm delivery due to suspected fetal distress

Abdomen Gastrointestinal:
gastroesophageal reflux
chronic diarrhea
dilation of colon
esophageal stricture (rare)
achalasia (rare)
Genitourinary Internal Genitalia Male:
small testes

Cardiovascular Vascular:
patent ductus arteriosus

bacterial infections, recurrent
fungal infections, recurrent
viral infections, recurrent
mild decrease in natural killer cell activity
Skeletal Hands:
overlapping fingers
radial club hand

Genitourinary Internal Genitalia Female:
primary ovarian failure
hypoplastic ovaries
dysgenetic ovaries
few primordial follicles of ovaries

Skeletal Feet:
club feet
rocker-bottom feet

Growth Other:
intrauterine growth restriction

Respiratory Lung:
aspiration pneumonia, recurrent

Genitourinary Kidneys:
bacterial nephritis (rare)

thrombocytopenia, transient or persistent (in early infancy)
anemia, transient or persistent (in early infancy)
mild lymphopenia
leukopenia (in some patients)
low granulocyte count (in some patients)

Clinical features from OMIM:


Drugs & Therapeutics for Mirage Syndrome

Drugs for Mirage Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 185)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Azacitidine Approved, Investigational Phase 4 320-67-2 9444
Zoledronic Acid Approved Phase 4 118072-93-8 68740
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
4 Vitamins Phase 4
5 Diphosphonates Phase 4
6 Calciferol Phase 4
7 Immunoglobulins Phase 4
8 Antibodies Phase 4
9 Immunoglobulins, Intravenous Phase 4
10 Rho(D) Immune Globulin Phase 4
11 Immunologic Factors Phase 4
12 gamma-Globulins Phase 4
13 sodium fluoride Approved Phase 3 7681-49-4
Anagrelide Approved Phase 3 68475-42-3 2182
Pipobroman Approved Phase 3 54-91-1 4842
Zidovudine Approved Phase 2, Phase 3 30516-87-1 35370
Lamivudine Approved, Investigational Phase 2, Phase 3 134678-17-4 60825
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
Nandrolone decanoate Approved, Illicit Phase 3 360-70-3 9677
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 3 62-90-8 229455
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
Danazol Approved Phase 3 17230-88-5 28417
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
Mogamulizumab Approved, Investigational Phase 3 1159266-37-1
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
Daunorubicin Approved Phase 3 20830-81-3 30323
Ifosfamide Approved Phase 3 3778-73-2 3690
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
Etoposide Approved Phase 3 33419-42-0 36462
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
Ponatinib Approved, Investigational Phase 3 943319-70-8 24826799
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
Nandrolone Experimental, Investigational Phase 3 434-22-0 9904
43 Technetium Tc 99m Medronate Phase 3
44 Fluorides Phase 3
45 Listerine Phase 3
46 Reverse Transcriptase Inhibitors Phase 2, Phase 3
47 Anti-HIV Agents Phase 2, Phase 3
48 Anti-Retroviral Agents Phase 2, Phase 3
49 Endothelial Growth Factors Phase 2, Phase 3
50 Excitatory Amino Acid Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 187)
# Name Status NCT ID Phase Drugs
1 Assessment of the Efficacy, Tolerability and Pharmaco-economic Impact of Zoledronic Acid Treatment in Prostate Cancer With Bone Metastasis Completed NCT00241111 Phase 4 zoledronic acid
2 Effect of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastasis Completed NCT00237159 Phase 4 Zoledronic acid
3 Efficacy and Safety Study of ZOMETA® in Treatment of High-level NTX Non Small Cell Lung Cancer With Bone Metastasis Completed NCT00762346 Phase 4 zometa
4 A Multi-center Observational Clinical Study of Screening of Non-small-cell Lung Cancer With Bone Metastasis and Efficacy and Safety of Those Receiving Bisphosphonates Completed NCT00765687 Phase 4 bisphosphates
5 A Prospective, Single-arm Multicenter Study to Evaluate Effect of Intravenous Zoledronic Acid on Bone Metabolism Given Over 4 Months in Patients With Prostate Cancer or Breast Cancer and Bone Metastasis Completed NCT00334139 Phase 4 Zoledronic Acid
6 A Multicenter, Open-label, Randomized Trial to Evaluate the Anti-cancer Effects of Zoledronic Acid and Circulating Tumor Cell Measurements in Patients With HER2-negative Metastatic Breast Cancer Without Bone Metastasis Completed NCT01129336 Phase 4 Zoledronic acid;Standard Therapy
7 A UK Open-label, Multicentre, Exploratory Phase II Study of INC424 for Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
8 A Phase 4, Open-Label, Single-Arm Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Subcutaneous Azacitidine in Adult Taiwanese Subjects With Higher-Risk Myelodysplastic Syndromes. Completed NCT01201811 Phase 4 Azacitidine
9 Zoledronic Acid Combined Radiotherapy for Bone Metastasis of Non-small Cell Lung Cancer: A Non-inferiority, Randomized, Open, Parallel and Controlled Prospective Clinical Study Not yet recruiting NCT02480634 Phase 4 Zoledronic acid
10 A Double-Blind, Placebo Controlled Study of Intravenous Immunoglobulin for HIV-Associated Myelopathy Terminated NCT01561755 Phase 4 Intravenous Immunoglobulin;Placebo
11 A Phase 4, Randomized, Double-blind, Placebo-controlled, Cross-over Clinical Trial of a Single Shot of Intrathecal Ziconotide for the Treatment of Chronic, Medically Refractory Pain From Painful Peripheral Neuropathy or Myelopathy Withdrawn NCT01992562 Phase 4 Ziconotide;placebo
12 Open-Label, Exploratory Study of the Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Unknown status NCT01343355 Phase 2, Phase 3 Tamibarotene
13 Biological Image Guided Antalgic Stereotactic Body Radiotherapy of Bone Metastases: a Randomized Phase II/III Trial Unknown status NCT01429493 Phase 2, Phase 3
14 18F-Fluoride PET/CT Versus 99mTc-MDP Scanning for Detecting Bone Metastases: A Randomized, Multi-Center Trial to Compare Two Bone Imaging Techniques Unknown status NCT00882609 Phase 3
15 Security and Effectiveness of Autologous Bone Marrow Stem Cell Transplantation to Avoid Amputations in Patients With Limb-threatening Ischemia: A Multicentric Randomized Placebo-controlled Double-blind Study Unknown status NCT00434616 Phase 2, Phase 3
16 Open-Label Access Protocol of Denosumab for Subjects With Advanced Cancer Completed NCT01419717 Phase 3 Denosumab
17 A Randomized, Double-blind, Multi-centre Study to Evaluate the Fficacy and Safety of Zometa as a Treatment in Patients With Bone Metastases of Any Solid Tumors or Multiple Myeloma Completed NCT00219258 Phase 3 Zoledronic acid
18 Randomized, Open Label, Multicenter Phase IIIb Study Evaluating the Efficacy and Safety of Ruxolitinib Versus Best Available Therapy in Patients With Polycythemia Vera Who Are Hydroxyurea Resistant or Intolerant (Response 2) Completed NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
19 A Randomized, Double-Blind, Multicenter Study of Denosumab Compared With Zoledronic Acid (Zometa) in the Treatment of Bone Metastases in Subjects With Advanced Cancer (Excluding Breast and Prostate Cancer) or Multiple Myeloma. Completed NCT00330759 Phase 3 Zoledronic Acid
20 A Randomized, Double-Blind, Multicenter Study of Denosumab Compared With Zoledronic Acid (Zometa®) in the Treatment of Bone Metastases in Men With Hormone-Refractory Prostate Cancer Completed NCT00321620 Phase 3 zoledronic acid
21 A Randomized, Double-Blind, Multicenter Study of Denosumab Compared With Zoledronic Acid (Zometa®) in the Treatment of Bone Metastases in Subjects With Advanced Breast Cancer Completed NCT00321464 Phase 3 Zoledronic Acid
22 An Open Label, Single Arm, Extension Study to Evaluate the Long Term Safety of Denosumab in the Treatment of Bone Metastases in Subjects With Advanced Cancer or Multiple Myeloma Completed NCT00950911 Phase 3 amg 162
23 Zidovudine Plus Lamivudine in HTLV-I-associated Myelopathy: a Randomised Trial Completed NCT00272480 Phase 2, Phase 3 Zidovudine/lamivudine;Placebos
24 A Phase 3 Multinational, Multi-center, Open-Label, Randomized Study of the Efficacy of Radotinib Versus Imatinib in Newly Diagnosed Ph+ CML Patients in Early Chronic Phase Completed NCT01511289 Phase 3 Imatinib;Radotinib
25 A Randomized, Double-Blind, Multicenter Study of Denosumab Compared With Zoledronic Acid in the Treatment of Bone Disease in Subjects With Newly Diagnosed Multiple Myeloma Completed NCT01345019 Phase 3 Denosumab;Zoledronic acid;Placebo to Denosumab;Placebo to zoledronic acid;Denosumab (for the open-label treatment phase)
26 Randomized Phase 2 Study on the Relationship Between Circulating VEGF and Weekly or Every-four-week Zometa in Breast Cancer Patients With Bone Metastases Completed NCT00524849 Phase 2, Phase 3 Zoledronic acid
27 Efficacy of Riluzole in Patients With Cervical Spondylotic Myelopathy Undergoing Surgical Treatment. A Randomized, Double-Blind, Placebo-controlled Multi-Center Study Completed NCT01257828 Phase 3 riluzole;Placebo medication
28 A Randomized Phase III Double-Blind Study of Dexamethasone Versus Placebo in the Prophylaxis of Radiation-Induced Pain Flare Following Palliative Radiotherapy for Bone Metastases Completed NCT01248585 Phase 3 Dexamethasone;Placebo
29 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
30 Treatment of AIDS Vacuolar Myelopathy With Methionine Completed NCT00032695 Phase 3 methionine
31 An Open-label, Single Arm, Phase III Study to Assess the Self-administration of AOP2014 Using a Pre-filled Pen, Developed for the Treatment of Polycythemia Vera Patients Completed NCT02523638 Phase 3 Pegylated-Proline-Interferon alpha-2b in a Pre-filled Pen
32 The HAM Ciclosporin Study : an Observational Trial of Therapy in Early or Progressing HAM/TSP Completed NCT00773292 Phase 2, Phase 3 ciclosporin
33 Investigation of Optimal Radiotherapy Regimen and Type of Irradiation in Treatment of Painful Bone Metastasis Completed NCT00610272 Phase 3
34 Phase III Study of Palliative Radiotherapy for Bone Metastases Comparing Single to Multiple Fractions. Completed NCT00858741 Phase 3
35 Dexamethasone for the Prevention of a Pain Flare After Palliative Radiotherapy for Painful Bone Metastases: a Multi-center Double-blind Placebo-controlled Randomized Study Completed NCT01669499 Phase 3 Dexamethasone acetate;Placebo
36 The CSM Trial: A Multicenter Study Comparing Ventral to Dorsal Surgery for Cervical Spondylotic Myelopathy Completed NCT00506558 Phase 3
37 A Prospective Randomized Double-blinded Clinical Trial About the Efficacy of Oral Limaprost Administration Following Surgery for Cervical Myelopathy Recruiting NCT02125981 Phase 3 Limaprost;Placebo
38 Phase 3 Study Evaluating Fentanyl Transmucosal in the Prevention of Pain Induced by Mobilization During Radiotherapy in Patients With Bone Metastasis Recruiting NCT02426697 Phase 3 fentanyl transmucosal;Placebo
39 A Randomized, Double-Blind, Phase 3 Study of Momelotinib vs Danazol in Symptomatic, Anemic Subjects With Previously JAKi Treated Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post Essential Thrombocythemia Myelofibrosis Recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
40 Focused Ultrasound and RadioTHERapy for Noninvasive Palliative Pain Treatment in Patients With Bone Metastases Recruiting NCT04307914 Phase 3
41 A Phase 3 Multicenter, Randomized, Double-Blind and Placebo-Controlled Study, and Open Study of KW-0761 in Patients With HTLV-1 Associated Myelopathy (HAM) Active, not recruiting NCT03191526 Phase 3 KW-0761 0.3 mg/kg IV;Placebo (saline)
42 A Randomized, Open-label Study of Ponatinib Versus Nilotinib in Patients With Chronic Myeloid Leukemia in Chronic Phase Following Resistance to Imatinib Active, not recruiting NCT02627677 Phase 3 ponatinib 30 mg QD;ponatinib 15 mg QD;nilotinib 400 mg BID
44 An Open-label, Multicenter, Phase IIIb Study Assessing the Long-term Efficacy and Safety of AOP2014 and Standard First Line Treatment (BAT) in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study Active, not recruiting NCT02218047 Phase 3 Pegylated-Proline-interferon alpha-2b;Best available therapy (BAT)
45 A Randomized Trial Evaluating Rapid Delivery of Dose Escalated Hypofractionated Radiotherapy for Patients Diagnosed With Bone Metastases for Effective Palliation of Symptoms Active, not recruiting NCT02163226 Phase 2, Phase 3
46 Randomized Phase 3 Trial Evaluating the Addition of the IGF-1R Monoclonal Antibody Ganitumab (AMG 479, NSC# 750008) to Multiagent Chemotherapy for Patients With Newly Diagnosed Metastatic Ewing Sarcoma Active, not recruiting NCT02306161 Phase 3 Cyclophosphamide;Doxorubicin;Doxorubicin Hydrochloride;Etoposide;Etoposide Phosphate;Ifosfamide;Vincristine;Vincristine Sulfate
47 A Phase 3 Randomized,Open-Label Study of Ponatinib Versus Imatinib in Adult Patients With Newly Diagnosed Chronic Myeloid Leukemia in Chronic Phase Terminated NCT01650805 Phase 3 ponatinib;imatinib (Gleevec/ Glivec)
48 Fentanyl-Propofol-EMLA or L.M.X4™ Technique for Bone Marrow Aspiration in Pediatric Patients - A Phase III Study Terminated NCT00187135 Phase 3 Fentanyl;EMLA;L.M.X4;Propofol
49 Treatment of the Anemia of Myelodysplastic Syndromes by the Association of Epoetin Beta and All Trans Retinoic Acid Unknown status NCT00437450 Phase 2 Epoetin/Atra
50 Concurrent Xeloda and Radiotherapy for Bone Metastases Unknown status NCT00192777 Phase 2 Xeloda

Search NIH Clinical Center for Mirage Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cochrane evidence based reviews: bone marrow diseases

Genetic Tests for Mirage Syndrome

Genetic tests related to Mirage Syndrome:

# Genetic test Affiliating Genes
1 Mirage Syndrome 29 SAMD9

Anatomical Context for Mirage Syndrome

MalaCards organs/tissues related to Mirage Syndrome:

Bone, Prostate, Breast, Bone Marrow, Myeloid, Lung, Skin

Publications for Mirage Syndrome

Articles related to Mirage Syndrome:

(show all 25)
# Title Authors PMID Year
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. 56 6 61
27182967 2016
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene 61
31208161 2020
The Neuropathology of MIRAGE Syndrome. 61
32106287 2020
Primary adrenal insufficiency: New genetic causes and their long-term consequences. 61
31610036 2020
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene. 61
32194975 2020
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations. 61
31306780 2019
MIRAGE Syndrome: Phenotypic Rescue by Somatic Mutation and Selection. 61
31624021 2019
Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis. 61
31638924 2019
A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases. 61
30900330 2019
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. 61
30565860 2019
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder. 61
31572304 2019
[Cancer predisposition in inherited bone marrow failure syndromes and primary immunodeficiency diseases]. 61
31281163 2019
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement. 61
31620126 2019
MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report. 61
31666768 2019
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. 61
29535429 2018
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. 61
29506479 2018
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. 61
29266745 2018
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. 61
29175836 2018
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. 61
30403727 2018
[Association between SAMD9/SAMD9L and hematological malignancies]. 61
30531146 2018
Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. 61
29365320 2018
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 61
28450305 2017
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. 61
28346228 2017
Androgens and erythropoiesis: past and present. 54
19494706 2009
Diabetic patients on peritoneal dialysis need less erythropoietin to maintain adequate hemoglobin. 54
11510260 2001

Variations for Mirage Syndrome

ClinVar genetic disease variations for Mirage Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SAMD9 NM_017654.4(SAMD9):c.1376G>A (p.Arg459Gln)SNV Pathogenic 253151 7:92734035-92734035 7:93104722-93104722
2 SAMD9 NM_017654.4(SAMD9):c.2305G>A (p.Asp769Asn)SNV Pathogenic 253152 7:92733106-92733106 7:93103793-93103793
3 SAMD9 NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp)SNV Pathogenic 253153 7:92731534-92731534 7:93102221-93102221
4 SAMD9 NM_017654.4(SAMD9):c.2945G>A (p.Arg982His)SNV Likely pathogenic 559913 rs1554336974 7:92732466-92732466 7:93103153-93103153
5 SAMD9 NM_017654.4(SAMD9):c.2159del (p.Asn720fs)deletion Likely pathogenic 587617 rs753146043 7:92733252-92733252 7:93103939-93103939
6 SAMD9 NM_017654.4(SAMD9):c.2247C>A (p.His749Gln)SNV Likely pathogenic 800552 7:92733164-92733164 7:93103851-93103851
7 SAMD9 NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr)SNV Uncertain significance 634460 rs778749748 7:92733213-92733213 7:93103900-93103900

UniProtKB/Swiss-Prot genetic disease variations for Mirage Syndrome:

# Symbol AA change Variation ID SNP ID
1 SAMD9 p.Arg1293Trp VAR_077813
2 SAMD9 p.Arg459Gln VAR_077885
3 SAMD9 p.Asp769Asn VAR_077886
4 SAMD9 p.Asn834Tyr VAR_077887
5 SAMD9 p.Glu974Lys VAR_077888 rs155433698
6 SAMD9 p.Ala1195Val VAR_077889
7 SAMD9 p.Pro1280Leu VAR_077890
8 SAMD9 p.Gln1286Lys VAR_077891

Expression for Mirage Syndrome

Search GEO for disease gene expression data for Mirage Syndrome.

Pathways for Mirage Syndrome

GO Terms for Mirage Syndrome

Sources for Mirage Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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