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 53 59 74 29 6
Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy 57 53 74
Bone Marrow Diseases 44 72
Mirage 57 74
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Phenotypes-Enteropathy Syndrome 59
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Anomalies-Enteropathy Syndrome 59



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


External Ids:

OMIM 57 617053
Orphanet 59 ORPHA494433
UMLS 72 C0005956

Summaries for Mirage Syndrome

OMIM : 57 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)

MalaCards based summary : Mirage Syndrome, also known as myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, is related to polycythemia and spinal cord disease. 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 seizures

UniProtKB/Swiss-Prot : 74 MIRAGE syndrome: A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.

Wikipedia : 75 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 96)
# Related Disease Score Top Affiliating Genes
1 polycythemia 11.4
2 spinal cord disease 11.4
3 alzheimer disease 10.4
4 sleep disorder 10.2
5 acute pancreatitis 10.1
6 cerebrovascular disease 10.1
7 infantile apnea 10.1
8 new-onset refractory status epilepticus 10.1
9 aplastic anemia 10.1
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
11 neuroblastoma 1 10.0
12 breast cancer 9.9
13 colorectal cancer 9.9
14 cardiac conduction defect 9.9
15 renal cell carcinoma, nonpapillary 9.9
16 leukemia, chronic lymphocytic 9.9
17 systemic lupus erythematosus 9.9
18 prostate cancer 9.9
19 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
20 gallbladder disease 1 9.9
21 stroke, ischemic 9.9
22 malaria 9.9
23 aspergillosis 9.9
24 lymphoma 9.9
25 ectopic pregnancy 9.9
26 pollen allergy 9.9
27 lymphocytic leukemia 9.9
28 asphyxia neonatorum 9.9
29 cholecystolithiasis 9.9
30 allergic hypersensitivity disease 9.9
31 allergic bronchopulmonary aspergillosis 9.9
32 disease of mental health 9.9
33 cerebral palsy 9.9
34 gastroenteritis 9.9
35 thrombophilia 9.9
36 endometriosis 9.9
37 testicular cancer 9.9
38 mood disorder 9.9
39 avian influenza 9.9
40 poliomyelitis 9.9
41 pancreatitis 9.9
42 fibromyalgia 9.9
43 myocarditis 9.9
44 lung disease 9.9
45 subacute delirium 9.9
46 pulmonary embolism 9.9
47 myocardial stunning 9.9
48 47,xyy 9.9
49 hemoglobin se disease 9.9
50 leukemia, b-cell, chronic 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:

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

Symptoms via clinical synopsis from OMIM:

Growth Height:
short stature

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

Genitourinary Internal Genitalia Male:
small testes

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)
Cardiovascular Vascular:
patent ductus arteriosus

Neurologic Central Nervous System:
motor delay
developmental delay
seizures (rare)
hydrocephalus (rare)
limited or no speech (in some patients)
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:
rocker-bottom feet
club 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 243)
# 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 Diphosphonates Phase 4
5 Vitamins Phase 4
6 Calciferol Phase 4
7 Bone Density Conservation Agents Phase 4
8 Antibodies Phase 4
9 Immunoglobulins Phase 4
10 Immunologic Factors Phase 4
11 gamma-Globulins Phase 4
12 Immunoglobulins, Intravenous Phase 4
13 Rho(D) Immune Globulin Phase 4
14 sodium fluoride Approved Phase 3 7681-49-4
Lamivudine Approved, Investigational Phase 2, Phase 3 134678-17-4 60825
Zidovudine Approved Phase 2, Phase 3 30516-87-1 35370
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 3 62-90-8 229455
Nandrolone decanoate Approved, Illicit Phase 3 360-70-3 9677
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
Alprostadil Approved, Investigational Phase 3 745-65-3 5280723 149351
Etidronic acid Approved Phase 3 2809-21-4, 7414-83-7 3305
nivolumab Approved Phase 3 946414-94-4
Ipilimumab Approved Phase 3 477202-00-9
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
Anagrelide Approved Phase 3 68475-42-3 2182
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
Mogamulizumab Approved, Investigational Phase 3 1159266-37-1
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
Ifosfamide Approved Phase 3 3778-73-2 3690
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
Etoposide Approved Phase 3 33419-42-0 36462
Daunorubicin Approved Phase 3 20830-81-3 30323
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
Proline Approved, Nutraceutical Phase 3 147-85-3 145742
Nandrolone Experimental, Investigational Phase 3 434-22-0 9904

Interventional clinical trials:

(show top 50) (show all 218)
# 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 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
7 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
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 Biological Image Guided Antalgic Stereotactic Body Radiotherapy of Bone Metastases: a Randomized Phase II/III Trial Unknown status NCT01429493 Phase 2, Phase 3
13 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
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 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
17 Open-Label Access Protocol of Denosumab for Subjects With Advanced Cancer Completed NCT01419717 Phase 3 denosumab
18 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
19 Zidovudine Plus Lamivudine in HTLV-I-associated Myelopathy: a Randomised Trial Completed NCT00272480 Phase 2, Phase 3 Zidovudine/lamivudine;Placebos
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 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
23 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
24 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
25 Treatment of AIDS Vacuolar Myelopathy With Methionine Completed NCT00032695 Phase 3 methionine
26 Multi-Center Trial of Anti-Thymocyte Globulin in Treatment of Aplastic Anemia and Other Hematologic Disorders Completed NCT00000597 Phase 3 antilymphocyte serum;nandrolone
27 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
28 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
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 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
31 Pain Education for Patients With Painful Bone Metastases Undergoing Palliative Radiotherapy: Reducing Pain by Increasing Patient's Knowledge and Self-management Completed NCT01358539 Phase 3
32 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
33 The HAM Ciclosporin Study : an Observational Trial of Therapy in Early or Progressing HAM/TSP Completed NCT00773292 Phase 2, Phase 3 ciclosporin
34 A Randomized, Phase III Study of Standard Dosing Versus Longer Dosing Interval of Zoledronic Acid in Metastatic Cancer Completed NCT00869206 Phase 3 zoledronic acid
35 Investigation of Optimal Radiotherapy Regimen and Type of Irradiation in Treatment of Painful Bone Metastasis Completed NCT00610272 Phase 3
36 Phase III Study of Palliative Radiotherapy for Bone Metastases Comparing Single to Multiple Fractions. Completed NCT00858741 Phase 3
37 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
38 The CSM Trial: A Multicenter Study Comparing Ventral to Dorsal Surgery for Cervical Spondylotic Myelopathy Completed NCT00506558 Phase 3
39 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
40 Repeated Rhenium-188-HEDP Versus Radium-223-chloride in Patients With Metastatic Castration-resistant Prostate Cancer: The RaRe Study Recruiting NCT03458559 Phase 3 Radium-223 chloride;Rhenium-188-HEDP
41 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
42 PD-Inhibitor (Nivolumab) and Ipilimumab Followed by Nivolumab vs. VEGF TKI Cabozantinib With Nivolumab: A Phase III Trial in Metastatic Untreated Renal Cell Cancer [PDIGREE] Recruiting NCT03793166 Phase 3 Cabozantinib
43 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) Active, not recruiting NCT02038036 Phase 3 Best Available Therapy;ruxolitinib
44 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)
45 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
47 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
48 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 3
49 CNS Growth Factors Release and Changes in the Inflammatory Environment in Response to Electrical Stimulation in Subjects With Inflammatory Myelopathies Active, not recruiting NCT01440452 Phase 2, Phase 3
50 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)

Search NIH Clinical Center for Mirage Syndrome

Inferred drug relations via UMLS 72 / 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, Breast, Bone Marrow, Myeloid, Lung, Cortex

Publications for Mirage Syndrome

Articles related to Mirage Syndrome:

(show all 17)
# Title Authors PMID Year
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. 38 8 71
27182967 2016
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations. 38
31306780 2019
A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases. 38
30900330 2019
A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene 38
31208161 2019
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. 38
30565860 2019
[Cancer predisposition in inherited bone marrow failure syndromes and primary immunodeficiency diseases]. 38
31281163 2019
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. 38
29535429 2018
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. 38
29506479 2018
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. 38
29266745 2018
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. 38
29175836 2018
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. 38
30403727 2018
Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. 38
29365320 2018
[Association between SAMD9/SAMD9L and hematological malignancies]. 38
30531146 2018
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 38
28450305 2017
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. 38
28346228 2017
Androgens and erythropoiesis: past and present. 9
19494706 2009
Diabetic patients on peritoneal dialysis need less erythropoietin to maintain adequate hemoglobin. 9
11510260 2001

Variations for Mirage Syndrome

ClinVar genetic disease variations for Mirage Syndrome:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SAMD9 SAMD9, ARG459GLN undetermined variant Pathogenic
2 SAMD9 SAMD9, ASP769ASN undetermined variant Pathogenic
3 SAMD9 SAMD9, ARG1293TRP undetermined variant Pathogenic
4 SAMD9 NM_017654.4(SAMD9): c.2159del (p.Asn720fs) deletion Likely pathogenic 7:92733252-92733252 7:93103939-93103939
5 SAMD9 NM_017654.4(SAMD9): c.2945G> A (p.Arg982His) single nucleotide variant Likely pathogenic rs1554336974 7:92732466-92732466 7:93103153-93103153
6 SAMD9 NM_017654.4(SAMD9): c.2198T> C (p.Ile733Thr) single nucleotide variant Uncertain significance 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
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
Loading form....