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 57 25 20 58 73 29 6
Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy 57 20 73
Bone Marrow Diseases 44 71
Mirage 57 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
Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, Enteropathy 25



57 (Updated 05-Mar-2021)
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


Penetrance Penetrance is unknown. of note, one asymptomatic female with a germline gain-of-abnormal-function samd9 pathogenic variant (which she transmitted to her child, who had a typical mirage phenotype) also had a somatic loss-of-function samd9 variant in...


Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis

Summaries for Mirage Syndrome

GARD : 20 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 Zoledronic Acid and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and bone marrow, and related phenotypes are hydrocephalus and myelodysplasia

OMIM® : 57 MIRAGE syndrome (MIRAGE) 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) (Updated 05-Mar-2021)

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.

GeneReviews: NBK564655

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 98)
# Related Disease Score Top Affiliating Genes
1 pancytopenia 29.4 SAMD9 EPO
2 myelodysplastic syndrome 29.2 SAMD9 EPO
3 spinal cord disease 11.2
4 alzheimer disease 10.1
5 thrombocytopenia 10.1
6 aspiration pneumonia 10.0
7 achalasia 10.0
8 sleep disorder 10.0
9 paroxysmal nocturnal hemoglobinuria 10.0
10 hemoglobinuria 10.0
11 acute pancreatitis 9.9
12 pancreatitis 9.9
13 cerebrovascular disease 9.9
14 infantile apnea 9.9
15 gastroesophageal reflux 9.9
16 ataxia-pancytopenia syndrome 9.9
17 otitis media 9.9
18 cryptorchidism, unilateral or bilateral 9.9
19 enterocolitis 9.9
20 ataxia and polyneuropathy, adult-onset 9.9
21 leukemia, acute myeloid 9.9
22 46,xy sex reversal 3 9.9
23 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.9
24 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
25 proteinuria, chronic benign 9.9
26 cerebellar hypoplasia 9.9
27 metaphyseal dysplasia 9.9
28 urinary tract infection 9.9
29 hypospadias 9.9
30 microcephaly 9.9
31 hydrocephalus 9.9
32 nephrotic syndrome 9.9
33 neutropenia 9.9
34 keratoconjunctivitis sicca 9.9
35 focal segmental glomerulosclerosis 9.9
36 diarrhea 9.9
37 disorder of sexual development 9.9
38 gastroenteritis 9.9
39 pneumonia 9.9
40 corneal ulcer 9.9
41 perinatal necrotizing enterocolitis 9.9
42 myeloid leukemia 9.9
43 keratoconjunctivitis 9.9
44 polymicrogyria 9.9
45 penis agenesis 9.9
46 autonomic dysfunction 9.9
47 dysautonomia 9.9
48 syndrome with 46,xy disorder of sex development 9.9
49 acute adrenal insufficiency 9.9
50 primary adrenal insufficiency 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 scoliosis 31 HP:0002650
11 global developmental delay 31 HP:0001263
12 short stature 31 HP:0004322
13 gastroesophageal reflux 31 HP:0002020
14 hypoglycemia 31 HP:0001943
15 anemia 31 HP:0001903
16 cryptorchidism 31 HP:0000028
17 intrauterine growth retardation 31 HP:0001511
18 thrombocytopenia 31 HP:0001873
19 motor delay 31 HP:0001270
20 talipes equinovarus 31 HP:0001762
21 lymphopenia 31 HP:0001888
22 patent ductus arteriosus 31 HP:0001643
23 hyponatremia 31 HP:0002902
24 hypospadias 31 HP:0000047
25 recurrent urinary tract infections 31 HP:0000010
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®:

57 (Updated 05-Mar-2021)
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®:

617053 (Updated 05-Mar-2021)

Drugs & Therapeutics for Mirage Syndrome

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

(show top 50) (show all 157)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Zoledronic Acid Approved Phase 4 118072-93-8 68740
2 Immunoglobulins Phase 4
3 Antibodies Phase 4
4 Immunologic Factors Phase 4
5 gamma-Globulins Phase 4
6 Immunoglobulins, Intravenous Phase 4
7 Rho(D) Immune Globulin Phase 4
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Lamivudine Approved, Investigational Phase 2, Phase 3 134678-17-4 60825
Zidovudine Approved Phase 2, Phase 3 30516-87-1 35370
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
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
Daunorubicin Approved Phase 3 20830-81-3 30323
Etoposide Approved Phase 3 33419-42-0 36462
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
Ifosfamide Approved Phase 3 3778-73-2 3690
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
Mogamulizumab Approved, Investigational Phase 3 1159266-37-1
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
Ibudilast Investigational Phase 3 50847-11-5 3671
28 Mitogens Phase 2, Phase 3
29 Protein Kinase Inhibitors Phase 3
30 Anti-Infective Agents Phase 2, Phase 3
31 Anticonvulsants Phase 3
32 Excitatory Amino Acid Antagonists Phase 3
33 Antiviral Agents Phase 2, Phase 3
34 Hormone Antagonists Phase 3
35 Anti-HIV Agents Phase 2, Phase 3
36 Reverse Transcriptase Inhibitors Phase 2, Phase 3
37 Anti-Retroviral Agents Phase 2, Phase 3
38 Antifungal Agents Phase 2, Phase 3
39 Calcineurin Inhibitors Phase 2, Phase 3
40 Anti-Inflammatory Agents Phase 3
41 Gastrointestinal Agents Phase 3
42 Antineoplastic Agents, Hormonal Phase 3
43 Antiemetics Phase 3
44 glucocorticoids Phase 3
45 Imatinib Mesylate Phase 3 220127-57-1 123596
46 Endothelial Growth Factors Phase 2, Phase 3
47 BB 1101 Phase 3
48 HIV Protease Inhibitors Phase 3
protease inhibitors Phase 3
50 Antirheumatic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 155)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 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
6 Effect of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastasis Completed NCT00237159 Phase 4 Zoledronic acid
7 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
8 A Double-Blind, Placebo Controlled Study of Intravenous Immunoglobulin for HIV-Associated Myelopathy Terminated NCT01561755 Phase 4 Intravenous Immunoglobulin;Placebo
9 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
10 Biological Image Guided Antalgic Stereotactic Body Radiotherapy of Bone Metastases: a Randomized Phase II/III Trial Unknown status NCT01429493 Phase 2, Phase 3
11 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
12 Phase 3 Study Evaluating Fentanyl Transmucosal in the Prevention of Pain Induced by Mobilization During Radiotherapy in Patients With Bone Metastasis Unknown status NCT02426697 Phase 3 fentanyl transmucosal;Placebo
13 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
14 A Randomized Trial Evaluating Rapid Delivery of Dose Escalated Hypofractionated Radiotherapy for Patients Diagnosed With Bone Metastases for Effective Palliation of Symptoms Completed NCT02163226 Phase 2, Phase 3
15 Open-Label Access Protocol of Denosumab for Subjects With Advanced Cancer Completed NCT01419717 Phase 3 Denosumab
16 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
17 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
18 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
19 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
20 Treatment of AIDS Vacuolar Myelopathy With Methionine Completed NCT00032695 Phase 3 methionine
21 Investigation of Optimal Radiotherapy Regimen and Type of Irradiation in Treatment of Painful Bone Metastasis Completed NCT00610272 Phase 3
22 Zidovudine Plus Lamivudine in HTLV-I-associated Myelopathy: a Randomised Trial Completed NCT00272480 Phase 2, Phase 3 Zidovudine/lamivudine;Placebos
23 The HAM Ciclosporin Study : an Observational Trial of Therapy in Early or Progressing HAM/TSP Completed NCT00773292 Phase 2, Phase 3 ciclosporin
24 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
25 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
26 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
27 Phase III Study of Palliative Radiotherapy for Bone Metastases Comparing Single to Multiple Fractions. Completed NCT00858741 Phase 3
28 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
29 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
30 The CSM Trial: A Multicenter Study Comparing Ventral to Dorsal Surgery for Cervical Spondylotic Myelopathy Completed NCT00506558 Phase 3
31 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
32 Focused Ultrasound and RadioTHERapy for Noninvasive Palliative Pain Treatment in Patients With Bone Metastases Recruiting NCT04307914 Phase 3
33 A Multi-center, Randomized, Double-blind, Comparative Study to Evaluate the Clinical Efficacy and Safety of QL1206 and Xgeva® in Patients With Bone Metastases From Solid Tumors Recruiting NCT04550949 Phase 3 QL1206;Xgeva
34 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
35 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
36 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)
37 Regeneration in Cervical Degenerative Myelopathy - a Multi-centre, Double-blind, Randomised, Placebo Controlled Trial Assessing the Efficacy of Ibudilast as an Adjuvant Treatment to Decompressive Surgery for Degenerative Cervical Myelopathy Not yet recruiting NCT04631471 Phase 3 Ibudilast;Matching placebo
38 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
39 Safety and Efficacy of DC Vaccine Combined With Cytokine-induced Killer Cells in Patients With Advanced Non-Small-Cell Lung Cancer With Bone Metastases: a Phase I/II Study Unknown status NCT02688686 Phase 1, Phase 2
40 A Multi-institutional, Randomized Parallel Controlled, Phase II Clinical Trial on Comparison of Effectiveness and Safeness of Amifostine Every-other-day Regimen and Everyday Regimen From Monday to Friday Unknown status NCT01762514 Phase 2 Amifostine every-other-day regimen;Amifostine everyday regimen
41 Phase I/II Dose-finding, Safety and Efficacy Study of Radium-223 Dichloride (XOFIGO®) in Renal Cell Carcinoma Patients With Bone Metastases. Unknown status NCT02880943 Phase 1, Phase 2 XOFIGO
42 Concurrent Xeloda and Radiotherapy for Bone Metastases Unknown status NCT00192777 Phase 2 Xeloda
43 Biological Imaging Guided Antalgic Radiotherapy of Bone Metastases (Phase II Trial) Unknown status NCT00503178 Phase 2
44 A Randomized, MultiCenter, Open-Label, Modified Dose-Ascension, Parallel Study of the Safety, Tolerability, and Efficacy of Oral SCIO-469 in Patients With Myelodysplastic Syndromes Completed NCT00113893 Phase 2 SCIO-469;SCIO-469;SCIO-469;SCIO-469
45 Phase I/II Study of Dasatinib in Combination With Zoledronic Acid for the Treatment of Breast Cancer With Bone Metastasis Completed NCT00566618 Phase 1, Phase 2 Dasatinib;Zoledronic Acid
46 Phase II Study of Efficacy of Radiotherapy in Combination With Zoledronic Acid on Pain Relief in Bone Metastasis Patients With Gastrointestinal Tumors Completed NCT02784652 Phase 2 Zoledronic acid
47 Combined Virological and Immunological Evaluation of Treatment of Patients With Early HTLV-1-Associated Myelopathy With Recombinant Human Interferon Beta-1a Completed NCT00001785 Phase 2 Recombinant human interferon beta-1a
48 Effects of Remote Ischemic Preconditioning on Biochemical Markers and Neurological Outcomes in Patients Undergoing Elective Cervical Decompression Surgery Completed NCT00778323 Phase 1, Phase 2
49 A Phase I/IIa Study of Safety and Efficacy of Alpharadin® With Docetaxel in Patients With Bone Metastasis From Castration-Resistant Prostate Cancer Completed NCT01106352 Phase 1, Phase 2 Radium-223 dichloride (Xofigo, BAY88-8223);Docetaxel
50 A Randomized, Open Label, Active Controlled Study of AMG 162 in Subjects With Advanced Cancer Currently Being Treated With Intravenous Bisphosphonates Completed NCT00104650 Phase 2 IV Bisphosphonate q 4 weeks

Search NIH Clinical Center for Mirage Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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, Bone Marrow, Testes, Cortex, Myeloid, Spleen

Publications for Mirage Syndrome

Articles related to Mirage Syndrome:

(show all 40)
# Title Authors PMID Year
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. 57 25 6 61
27182967 2016
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. 25 61
32619790 2020
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 25 61
31208161 2020
The Neuropathology of MIRAGE Syndrome. 25 61
32106287 2020
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene. 25 61
32194975 2020
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations. 61 25
31306780 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. 25 61
31638924 2019
A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases. 25 61
30900330 2019
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. 25 61
30565860 2019
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder. 61 25
31572304 2019
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement. 61 25
31620126 2019
MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report. 61 25
31666768 2019
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. 25 61
29506479 2018
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. 61 25
29266745 2018
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. 61 25
29175836 2018
Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. 61 25
29365320 2018
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. 61 25
30403727 2018
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. 25 61
28346228 2017
In trans early mosaic mutational escape and novel phenotypic features of germline SAMD9 mutation. 25
31900929 2020
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. 25
30322869 2018
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. 25
29146883 2018
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. 25
28834235 2018
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome. 25
28487541 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. 25
26702063 2016
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes. 61
33373325 2021
Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene. 61
33427306 2021
Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome. 61
33423168 2021
MIRAGE Syndrome 61
33237688 2020
A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report. 61
32787808 2020
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene. 61
33419973 2020
Primary adrenal insufficiency: New genetic causes and their long-term consequences. 61
31610036 2020
MIRAGE Syndrome: Phenotypic Rescue by Somatic Mutation and Selection. 61
31624021 2019
[Cancer predisposition in inherited bone marrow failure syndromes and primary immunodeficiency diseases]. 61
31281163 2019
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. 61
29535429 2018
[Association between SAMD9/SAMD9L and hematological malignancies]. 61
30531146 2018
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 61
28450305 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 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SAMD9 NM_017654.4(SAMD9):c.2305G>A (p.Asp769Asn) SNV Pathogenic 253152 rs1584253343 7:92733106-92733106 7:93103793-93103793
2 SAMD9 NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp) SNV Pathogenic 253153 rs1584251938 7:92731534-92731534 7:93102221-93102221
3 SAMD9 NM_017654.4(SAMD9):c.1376G>A (p.Arg459Gln) SNV Pathogenic 253151 rs1584254152 7:92734035-92734035 7:93104722-93104722
4 SAMD9 NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys) SNV Pathogenic 521232 rs1554336981 7:92732491-92732491 7:93103178-93103178
5 SAMD9 NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) SNV Pathogenic 985307 7:92732467-92732467 7:93103154-93103154
6 SAMD9 NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln) SNV Pathogenic 992633 7:92731533-92731533 7:93102220-93102220
7 SAMD9 NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) SNV Pathogenic/Likely pathogenic 559913 rs1554336974 7:92732466-92732466 7:93103153-93103153
8 SAMD9 NM_017654.4(SAMD9):c.2159del (p.Asn720fs) Deletion Likely pathogenic 587617 rs753146043 7:92733252-92733252 7:93103939-93103939
9 SAMD9 NM_017654.4(SAMD9):c.2247C>A (p.His749Gln) SNV Likely pathogenic 800552 rs1584253388 7:92733164-92733164 7:93103851-93103851
10 SAMD9 NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr) SNV Uncertain significance 634460 rs778749748 7:92733213-92733213 7:93103900-93103900
11 SAMD9 NM_017654.4(SAMD9):c.1058C>T (p.Thr353Met) SNV Likely benign 981514 7:92734353-92734353 7:93105040-93105040

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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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