MCID: MRG013
MIFTS: 43

Mirage Syndrome

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

Aliases & Classifications for Mirage Syndrome

MalaCards integrated aliases for Mirage Syndrome:

Name: Mirage Syndrome 57 53 59 75 29 6
Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy 57 53 75
Bone Marrow Diseases 44 73
Mirage 57 75
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Phenotypes-Enteropathy Syndrome 59
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Anomalies-Enteropathy Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
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


HPO:

32
mirage syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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 spinal cord disease and alzheimer disease. An important gene associated with Mirage Syndrome is SAMD9 (Sterile Alpha Motif Domain Containing 9). The drugs Adenosine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and prostate, and related phenotypes are recurrent urinary tract infections and cryptorchidism

UniProtKB/Swiss-Prot : 75 MIRAGE syndrome: A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.

Related Diseases for Mirage Syndrome

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 spinal cord disease 11.0
2 alzheimer disease 10.1
3 lymphoma 9.9
4 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.8
5 hematopoietic stem cell transplantation 9.8
6 neuroblastoma 9.6
7 leukemia, acute lymphoblastic 9.6
8 myelodysplastic syndrome 9.6
9 leukemia 9.6
10 paroxysmal nocturnal hemoglobinuria 9.6
11 thrombocytopenia 9.6
12 lymphoblastic leukemia 9.6
13 acute t cell leukemia 9.6
14 hemoglobinuria 9.6
15 lymphosarcoma 9.6

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



Diseases related to Mirage Syndrome

Symptoms & Phenotypes for Mirage Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism
small testes

Immunology:
sepsis
bacterial infections, recurrent
fungal infections, recurrent
viral infections, recurrent
mild decrease in natural killer cell activity
more
Neurologic Central Nervous System:
motor delay
developmental delay
seizures (rare)
hydrocephalus (rare)
limited or no speech (in some patients)
more
Endocrine Features:
adrenal insufficiency
low serum cortisol
primary hypogonadism
adrenal gland hypoplasia/aplasia
elevated plasma corticotropin
more
Growth Weight:
low weight

Genitourinary:
urinary tract infections, recurrent

Head And Neck Neck:
hypoplastic or absent thymus

AbdomenSpleen:
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)
more
Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary External Genitalia Male:
hypospadias
microphallus
bifid shawl scrotum

Skin Nails Hair Skin:
petechiae
generalized skin pigmentation

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)

Hematology:
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)
more

Clinical features from OMIM:

617053

Human phenotypes related to Mirage Syndrome:

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

Drugs & Therapeutics for Mirage Syndrome

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

(show top 50) (show all 427)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 2 58-61-7 60961
2
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2 50-18-0, 6055-19-2 2907
3
Pentostatin Approved, Investigational Phase 4,Phase 2 53910-25-1 40926 439693
4
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1 174722-31-7 10201696
5
Lacosamide Approved Phase 4 860352-01-8, 175481-36-4 219078
6
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2 33069-62-4 36314
7
Fluticasone Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2 90566-53-3 62924
8
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
9
Vancomycin Approved Phase 4,Phase 3 1404-90-6 441141 14969
10
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
11
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
12
Everolimus Approved Phase 4,Phase 3 159351-69-6 6442177
13
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 22916-47-8 4189
14
Sirolimus Approved, Investigational Phase 4,Phase 3 53123-88-9 5284616 6436030 46835353
15
Celecoxib Approved, Investigational Phase 4,Phase 3 169590-42-5 2662
16
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2 22204-53-1 1302 156391
17
Montelukast Approved Phase 4,Phase 3 158966-92-8 5281040
18
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
19
Phentolamine Approved Phase 4 50-60-2 5775
20
Zoledronic acid Approved Phase 4,Phase 3 118072-93-8 68740
21
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
22
Tofacitinib Approved, Investigational Phase 4,Phase 3 477600-75-2
23
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
24
Etanercept Approved, Investigational Phase 4 185243-69-0
25
Serine Approved, Nutraceutical Phase 4,Phase 3 56-45-1 5951
26
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
27
Phytonadione Approved, Investigational, Nutraceutical Phase 4 84-80-0 4812 5284607
28 Alkylating Agents Phase 4,Phase 3,Phase 2
29 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2
30 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
33 Autonomic Agents Phase 4,Phase 3,Phase 2
34 glucocorticoids Phase 4,Phase 3,Phase 2
35 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
36 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
38 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
39
Salmeterol xinafoate Phase 4,Phase 3,Phase 2 94749-08-3 56801
40 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
41 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
43 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Not Applicable
44 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2
45 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
46 Calcium, Dietary Phase 4,Phase 3,Phase 2
47 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
49 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
50 Micronutrients Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 379)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Nipent, Cytoxan and Rituxan in the Treatment of Chronic Lymphocytic Leukemia. Unknown status NCT00131313 Phase 4 Nipent, Cytoxan, Rituxan
2 Trial to Assess Lacosamide as the First add-on Anti-epileptic Drug Treatment in Patients With Partial-onset Seizures Completed NCT00955357 Phase 4 Lacosamide
3 Post Market Safety Study and Effectiveness With Evolence in Subjects With Skin Color Types IV-VI Completed NCT00891774 Phase 4
4 TAXUS ARRIVE 2: A Multi-Center Safety Surveillance Program Completed NCT00569751 Phase 4
5 Bone Mineral Density Study In Patients With Chronic Obstructive Pulmonary Disease. DISKUS® Inhaler is a Trademark of the GSK Group of Companies. Completed NCT00355342 Phase 4 Salmeterol 50 mcg BID;Fluticasone Propionate/Salmeterol 250/50 mcg BID
6 Microbiologic Response With Linezolid And Vancomycin In Ventilator-Associated Pneumonia Due To Methicillin Resistant Staphylococcus Aureus Completed NCT00572559 Phase 4 Vancomycin;Linezolid
7 XIENCE V® USA Dual Antiplatelet Therapy (DAPT) Cohort Completed NCT01106534 Phase 4 placebo + aspirin;clopidogrel + aspirin OR prasugrel + aspirin
8 A 12-Month Study Comparing Fluticasone Propionate/Salmeterol (ADVAIR) DISKUS Combination Product 250/50mcg BID To Fluticasone Propionate (FLOVENT) DISKUS 250 mcg BID In Symptomatic Subjects With Asthma Completed NCT00452699 Phase 4 Fluticasone Propionate/salmeterol xinofoate 250/50 mcg BID;Fluticasone propionate 250 mcg BID
9 OptiVol® Care Pathway Completed NCT00847288 Phase 4
10 Safety and Efficacy of Celecoxib Versus Naproxen in the 6-Month Treatment of Knee Osteoarthritis Completed NCT00643799 Phase 4 Celecoxib;Naproxen;Placebo
11 Efficacy and Safety of Valdecoxib and Naproxen in Treating the Signs and Symptoms of Rheumatoid Arthritis (RA) in a Severe Rheumatoid Arthritis Patients Completed NCT00650455 Phase 4 valdecoxib;naproxen;placebo
12 Skin Structure Infections With Suspected or Proven Methicillin-Resistant Staphylococcus Aureus (MRSA) Completed NCT00087490 Phase 4 linezolid;vancomycin
13 A Study to Determine the Degree of Additional Reduction in CV Risk in Lowering LDL Below Minimum Target Levels Completed NCT00327691 Phase 4 Atorvastatin
14 Study Of Allergic Rhinitis In Patients Who Also Have Asthma Completed NCT00296491 Phase 4 fluticasone propionate/salmeterol (FSC);montelukast (MON);fluticasone propionate (FP);placebo nasal;ADVAIR DISKUS;placebo capsule;placebo DISKUS
15 QUALITE Study - A Study of Fuzeon (Enfuvirtide) in Treatment-Experienced Patients With Human Immunodeficiency Virus-1 (HIV-1) Infection Completed NCT00232908 Phase 4 ARV regimen;enfuvirtide [Fuzeon]
16 ADVAIR® DISKUS® Inhaler (Fluticasone Propionate/Salmeterol) Versus SEREVENT® DISKUS® Inhaler (Salmeterol) For The Treatment Of Chronic Obstructive Pulmonary Disease Exacerbations. ADVAIR® DISKUS® Inhaler and SEREVENT® DISKUS® Inhaler Are Trademarks of the Completed NCT00144911 Phase 4 Salmeterol;Fluticasone Propionate/Salmeterol Combination Product
17 A Multiple Myeloma Trial in Patients With Bone Metastases Completed NCT00104104 Phase 4 zoledronic acid
18 Safety Study Of Tofacitinib Versus Tumor Necrosis Factor (TNF) Inhibitor In Subjects With Rheumatoid Arthritis Recruiting NCT02092467 Phase 4 tofacitinib;tofacitinib
19 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Active, not recruiting NCT02415400 Phase 4 Apixaban;vitamin K antagonist;Acetylsalicylic acid
20 World-wide Randomized Antibiotic Envelope Infection Prevention Trial Active, not recruiting NCT02277990 Phase 4
21 Evaluating the Safety and Efficacy of LIPO-202 for the Reduction of Central Abdominal Bulging Due to Subcutaneous Fat (AbCONTOUR2) Unknown status NCT02398188 Phase 3 LIPO-202;Placebo
22 Sub-Acute Stroke Rehabilitation With AMES Unknown status NCT00609115 Phase 2, Phase 3
23 To Assess Prevention of Bone Loss in Women With Lupus Receiving Treatment With Glucocorticoids Unknown status NCT00053560 Phase 3 Prasterone (GL701)
24 Phase III Randomized Study of 5-FU, CoFactor, and Avastin vs. 5-FU, LV and Avastin for First-Line Colorectal Cancer. Unknown status NCT00337389 Phase 3 5- Fluorouracil (5-FU);bevacizumab (Avastin);Leucovorin;CoFactor (ANX-510)
25 PANVAC™-VF Vaccine for the Treatment of Metastatic Pancreatic Cancer After Failing a Gemcitabine-Containing Regimen Unknown status NCT00088660 Phase 3
26 Comparison of Three Chemotherapy Regimens in Treating Patients With Metastatic Colorectal Cancer Unknown status NCT00008281 Phase 3 FOLFOX regimen;fluorouracil;leucovorin calcium;oxaliplatin
27 Comparing the Efficacy of Symbicort® pMDI and Formoterol Turbuhaler in Reducing Exacerbations in Patients With Cronic Obstructive Pulmonary Disease Completed NCT02157935 Phase 3 Symbicort;Formoterol turbohaler
28 Vaccine Therapy in Treating Patients With Metastatic Prostate Cancer That Has Not Responded to Hormone Therapy Completed NCT00005947 Phase 3
29 Tivantinib Plus Erlotinib Versus Placebo Plus Erlotinib for the Treatment of Non-squamous, Non-small-cell Lung Cancer Completed NCT01244191 Phase 3 Tivantinib;Placebo;Erlotinib
30 Continued Efficacy and Safety of Zoledronic Acid (q 4 Wks vs. q 12 Wks) in the 2nd Year of Treatment in Patients With Bone Metastases From Breast Cancer Completed NCT00320710 Phase 3 Zoledronic acid;Placebo
31 Buprenorphine/Naloxone Versus Clonidine for Inpatient Opiate Detoxification - 1 Completed NCT00032955 Phase 3 Buprenorphine/naloxone
32 A Pivotal Study of the Safety and Effectiveness of Arformoterol in Subjects With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00685841 Phase 3 Arformoterol tartrate inhalation solution;Arformoterol tartrate inhalation solution;Arformoterol tartrate inhalation solution;Salmeterol MDI;Placebo
33 Efficacy, Safety, and Tolerability of Oral Ubrogepant in the Acute Treatment of Migraine Completed NCT02867709 Phase 3 Ubrogepant;Placebo-matching Ubrogepant
34 Evaluation of Galcanezumab in the Prevention of Episodic Migraine- the EVOLVE-1 Study Completed NCT02614183 Phase 3 Galcanezumab;Placebo
35 Three Doses of Lasmiditan (50 mg, 100 mg and 200 mg) Compared to Placebo in the Acute Treatment of Migraine Completed NCT02605174 Phase 3 Lasmiditan 50 mg;Lasmiditan 100 mg;Lasmiditan 200 mg;Placebo
36 Study Evaluating Intepirdine (RVT-101) in Subjects With Mild to Moderate Alzheimer's Disease on Donepezil: MINDSET Study Completed NCT02585934 Phase 3 RVT-101;Placebo
37 Efficacy of Inhaled Albuterol Spiromax® in Subjects With Persistent Asthma With Steady State Pharmacokinetics Completed NCT01747629 Phase 3 Placebo MDPI;Albuterol MDPI
38 Efficacy and Safety Study of QVA149 in COPD Patients Completed NCT02487446 Phase 3 QVA149;Umeclidinium/vilanterol;Placebo (umeclidinium/vilanterol);Placebo (QVA149)
39 An Efficacy and Safety Study of Fluticasone Furoate/Vilanterol (FF/VI) 200/25 Microgram (mcg) , FF/VI 100/25 mcg, and FF 100 mcg in Adults and Adolescents With Persistent Asthma. Completed NCT01686633 Phase 3 Fluticasone Furoate/ Vilanterol 200/25 mcg;Fluticasone Furoate/ Vilanterol 100/25 mcg;Fluticasone Furoate 100 mcg
40 Phase 3 Study of Immunotherapy to Treat Advanced Prostate Cancer Completed NCT01057810 Phase 3 Ipilimumab;Placebo
41 Study to Evaluate the Efficacy and Safety of AMG 334 in Migraine Prevention Completed NCT02456740 Phase 3 AMG 334;AMG 334;Placebo
42 An Open-Label Extension Study of DS-5565 for 52 Weeks in Pain Associated With Fibromyalgia Completed NCT02234583 Phase 3 DS-5565
43 Clinical Study to Evaluate the Efficacy of VR506 Using a New Inhaler for the Treatment of Asthma Completed NCT01472757 Phase 2, Phase 3 VR506;Placebo
44 Long-Term Safety Study of Fluticasone Propionate (Fp) Multidose Dry Powder Inhaler (MDPI) and Fluticasone Propionate/Salmeterol (FS) MDPI in Patients With Persistent Asthma Completed NCT02175771 Phase 3 Fp MDPI;FS MDPI;FLOVENT HFA;ADVAIR DISKUS;albuterol/salbutamol HFA
45 Treatment of Pain Associated With Fibromyalgia Completed NCT02146430 Phase 3 DS-5565;Pregabalin;Placebo tablet;Placebo capsule
46 Efficacy and Safety Study of FP MDPI Compared With FS MDPI in Adolescent and Adult Patients With Persistent Asthma Completed NCT02141854 Phase 3 FS MDPI;Fp MDPI;Placebo MDPI;Albuterol/salmeterol HFA MDI
47 Study of Fluticasone Propionate MDPI Compared With Fluticasone/Salmeterol MDPI in Adolescent and Adult Patients With Persistent Asthma Completed NCT02139644 Phase 3 FS MDPI;Fp MDPI;Placebo MDPI;albuterol/salbutamol;Beclomethasone dipropionate
48 Efficacy And Safety Of Tofacitinib In Psoriatic Arthritis: Comparator Study Completed NCT01877668 Phase 3 Tofacitinib 5 mg BID;Tofacitinib 10 mg BID;Adalimumab;Placebo;Placebo
49 A Study Evaluating the Efficacy and Safety of Lebrikizumab in Adult Patients With Mild to Moderate Asthma Completed NCT02104674 Phase 3 lebrikizumab;montelukast [Singulair]
50 Safety, Efficacy and Tolerability of Vilazodone in (GAD) Generalized Anxiety Disorder Completed NCT01844115 Phase 3 Placebo;Vilazodone

Search NIH Clinical Center for Mirage Syndrome

Inferred drug relations via UMLS 73 / 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:

41
Lung, Bone, Prostate, Bone Marrow, Skin, Kidney, Colon

Publications for Mirage Syndrome

Articles related to Mirage Syndrome:

# Title Authors Year
1
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. ( 29506479 )
2018
2
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. ( 29266745 )
2018
3
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. ( 29175836 )
2018
4
Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. ( 29365320 )
2018
5
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. ( 27182967 )
2016

Variations for Mirage Syndrome

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

75
# 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
6 SAMD9 p.Ala1195Val VAR_077889
7 SAMD9 p.Pro1280Leu VAR_077890
8 SAMD9 p.Gln1286Lys VAR_077891

ClinVar genetic disease variations for Mirage Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SAMD9 SAMD9, ARG459GLN undetermined variant Pathogenic
2 SAMD9 SAMD9, ASP769ASN undetermined variant Pathogenic
3 SAMD9 SAMD9, ARG1293TRP undetermined variant Pathogenic

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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