MIRAGE
MCID: MRG013
MIFTS: 45

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 58 54 60 76 30 6
Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy 58 54 76
Bone Marrow Diseases 45 74
Mirage 58 76
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Phenotypes-Enteropathy Syndrome 60
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Anomalies-Enteropathy Syndrome 60

Characteristics:

OMIM:

58
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:

33
mirage syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mirage Syndrome

OMIM : 58 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 rituximab and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and bone, and related phenotypes are hydrocephalus and seizures

UniProtKB/Swiss-Prot : 76 MIRAGE syndrome: A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.

Wikipedia : 77 The following is a list of fictional characters from the 2004 Disney/Pixar computer-animated superhero... more...

Related Diseases for Mirage Syndrome

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:

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

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

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

Genitourinary Internal Genitalia Male:
cryptorchidism
small testes

Genitourinary External Genitalia Male:
hypospadias
microphallus
bifid shawl scrotum

Skin Nails Hair Skin:
petechiae
generalized skin pigmentation

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

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)
more
Cardiovascular Vascular:
patent ductus arteriosus

Neurologic Central Nervous System:
motor delay
developmental delay
seizures (rare)
hydrocephalus (rare)
limited or no speech (in some patients)
more
Immunology:
sepsis
bacterial infections, recurrent
fungal infections, recurrent
viral infections, recurrent
mild decrease in natural killer cell activity
more
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

Drugs & Therapeutics for Mirage Syndrome

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

(show top 50) (show all 473)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1 174722-31-7 10201696
2
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 2 58-61-7 60961
3
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2 50-18-0, 6055-19-2 2907
4
Pentostatin Approved, Investigational Phase 4,Phase 2 53910-25-1 439693 40926
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 Phase 4,Phase 3,Phase 2 90566-53-3 62924
8
Phylloquinone Approved, Investigational Phase 4 84-80-0
9
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
10 Menaquinone Approved, Investigational Phase 4 1182-68-9
11
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
12
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
13
Vancomycin Approved Phase 4,Phase 3 1404-90-6 14969 441141
14
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 22916-47-8 4189
15
Sirolimus Approved, Investigational Phase 4,Phase 3 53123-88-9 46835353 5284616 6436030
16
Everolimus Approved Phase 4,Phase 3 159351-69-6 70789204 6442177
17
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
18
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2 22204-53-1 156391 1302
19
Celecoxib Approved, Investigational Phase 4,Phase 3 169590-42-5 2662
20
Atorvastatin Approved Phase 4 134523-00-5 60823
21
Montelukast Approved Phase 4,Phase 3 158966-92-8 5281040
22
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
23
Zoledronic Acid Approved Phase 4,Phase 3 118072-93-8 68740
24
Phentolamine Approved Phase 4 50-60-2 5775
25
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
26
Tofacitinib Approved, Investigational Phase 4,Phase 3 477600-75-2
27
Etanercept Approved, Investigational Phase 4 185243-69-0
28
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2 7440-70-2 271
29
Serine Approved, Nutraceutical Phase 4,Phase 3 56-45-1 5951
30
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
31 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2
32 Alkylating Agents Phase 4,Phase 3,Phase 2
33 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
34 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Antineoplastic Agents, Immunological Phase 4,Phase 3,Phase 2,Phase 1
37 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
38 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
39 glucocorticoids Phase 4,Phase 3,Phase 2
40 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
41 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable
43 Autonomic Agents Phase 4,Phase 3,Phase 2
44
protease inhibitors Phase 4,Phase 3,Phase 2
45 Vitamins Phase 4,Phase 3,Phase 2
46 Trace Elements Phase 4,Phase 3,Phase 2
47 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
48 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
49 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Not Applicable
50 Nutrients Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 400)
# 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 TAXUS ARRIVE 2: A Multi-Center Safety Surveillance Program Completed NCT00569751 Phase 4
4 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
5 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 Completed NCT02415400 Phase 4 Apixaban;vitamin K antagonist;Acetylsalicylic acid
6 World-wide Randomized Antibiotic Envelope Infection Prevention Trial Completed NCT02277990 Phase 4
7 Microbiologic Response With Linezolid And Vancomycin In Ventilator-Associated Pneumonia Due To Methicillin Resistant Staphylococcus Aureus Completed NCT00572559 Phase 4 Vancomycin;Linezolid
8 XIENCE V® USA Dual Antiplatelet Therapy (DAPT) Cohort Completed NCT01106534 Phase 4 placebo + aspirin;clopidogrel + aspirin OR prasugrel + aspirin
9 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
10 Safety and Efficacy of Celecoxib Versus Naproxen in the 6-Month Treatment of Knee Osteoarthritis Completed NCT00643799 Phase 4 Celecoxib;Naproxen;Placebo
11 OptiVol® Care Pathway Completed NCT00847288 Phase 4
12 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
13 Skin Structure Infections With Suspected or Proven Methicillin-Resistant Staphylococcus Aureus (MRSA) Completed NCT00087490 Phase 4 linezolid;vancomycin
14 A Study to Determine the Degree of Additional Reduction in CV Risk in Lowering LDL Below Minimum Target Levels Completed NCT00327691 Phase 4 Atorvastatin
15 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
16 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]
17 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 GSK Group of Companies. Completed NCT00144911 Phase 4 Salmeterol;Fluticasone Propionate/Salmeterol Combination Product
18 A Multiple Myeloma Trial in Patients With Bone Metastases Completed NCT00104104 Phase 4 zoledronic acid
19 Safety Study Of Tofacitinib Versus Tumor Necrosis Factor (TNF) Inhibitor In Subjects With Rheumatoid Arthritis Recruiting NCT02092467 Phase 4 tofacitinib;tofacitinib
20 Sub-Acute Stroke Rehabilitation With AMES Unknown status NCT00609115 Phase 2, Phase 3
21 To Assess Prevention of Bone Loss in Women With Lupus Receiving Treatment With Glucocorticoids Unknown status NCT00053560 Phase 3 Prasterone (GL701)
22 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)
23 PANVAC™-VF Vaccine for the Treatment of Metastatic Pancreatic Cancer After Failing a Gemcitabine-Containing Regimen Unknown status NCT00088660 Phase 3
24 Comparison of Three Chemotherapy Regimens in Treating Patients With Metastatic Colorectal Cancer Unknown status NCT00008281 Phase 3 FOLFOX regimen;fluorouracil;leucovorin calcium;oxaliplatin
25 Evaluating the Safety and Efficacy of LIPO-202 for the Reduction of Central Abdominal Bulging Due to Subcutaneous Fat (AbCONTOUR2) Completed NCT02398188 Phase 3 LIPO-202;Placebo
26 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
27 Vaccine Therapy in Treating Patients With Metastatic Prostate Cancer That Has Not Responded to Hormone Therapy Completed NCT00005947 Phase 3
28 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
29 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
30 Buprenorphine/Naloxone Versus Clonidine for Inpatient Opiate Detoxification - 1 Completed NCT00032955 Phase 3 Buprenorphine/naloxone
31 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
32 An Extension Study to Evaluate the Long-Term Safety and Tolerability of Ubrogepant in the Treatment of Migraine Completed NCT02873221 Phase 3 Ubrogepant;Placebo-matching Ubrogepant;Usual Care
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 Phase 3 Study of Immunotherapy to Treat Advanced Prostate Cancer Completed NCT01057810 Phase 3 Ipilimumab;Placebo
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 Efficacy and Safety Study of QVA149 in COPD Patients Completed NCT02487446 Phase 3 QVA149;Umeclidinium/vilanterol;Placebo (umeclidinium/vilanterol);Placebo (QVA149)
41 Study to Evaluate the Efficacy and Safety of Erenumab (AMG 334) in Migraine Prevention Completed NCT02456740 Phase 3 Erenumab;Placebo
42 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
43 An Open-Label Extension Study of DS-5565 for 52 Weeks in Pain Associated With Fibromyalgia Completed NCT02234583 Phase 3 DS-5565
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 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
46 Treatment of Pain Associated With Fibromyalgia Completed NCT02146430 Phase 3 DS-5565;Pregabalin;Placebo tablet;Placebo capsule
47 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
48 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
49 Safety, Efficacy and Tolerability of Vilazodone in (GAD) Generalized Anxiety Disorder Completed NCT01844115 Phase 3 Placebo;Vilazodone
50 A Study Evaluating the Efficacy and Safety of Lebrikizumab in Adult Patients With Mild to Moderate Asthma Completed NCT02104674 Phase 3 lebrikizumab;montelukast [Singulair]

Search NIH Clinical Center for Mirage Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30 SAMD9

Anatomical Context for Mirage Syndrome

MalaCards organs/tissues related to Mirage Syndrome:

42
Lung, Breast, Bone, Prostate, Bone Marrow, Skin, Heart

Publications for Mirage Syndrome

Articles related to Mirage Syndrome:

# Title Authors Year
1
A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases. ( 30900330 )
2019
2
Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. ( 29365320 )
2018
3
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. ( 29175836 )
2018
4
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. ( 29266745 )
2018
5
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. ( 29506479 )
2018
6
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. ( 30403727 )
2018
7
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. ( 30565860 )
2018
8
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:

76
# 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
4 SAMD9 NM_017654.3(SAMD9): c.2945G> A (p.Arg982His) single nucleotide variant Likely pathogenic rs1554336974 GRCh37 Chromosome 7, 92732466: 92732466
5 SAMD9 NM_017654.3(SAMD9): c.2945G> A (p.Arg982His) single nucleotide variant Likely pathogenic rs1554336974 GRCh38 Chromosome 7, 93103153: 93103153
6 SAMD9 NM_001193307.1(SAMD9): c.2159delA (p.Asn720Thrfs) deletion Likely pathogenic GRCh37 Chromosome 7, 92733252: 92733252
7 SAMD9 NM_001193307.1(SAMD9): c.2159delA (p.Asn720Thrfs) deletion Likely pathogenic GRCh38 Chromosome 7, 93103939: 93103939

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

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