AMEDS
MCID: AMD002
MIFTS: 37

Amed Syndrome, Digenic (AMEDS)

Categories: Bone diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Amed Syndrome, Digenic

MalaCards integrated aliases for Amed Syndrome, Digenic:

Name: Amed Syndrome, Digenic 57 6
Bone Marrow Failure Syndrome 7, Digenic; Bmfs7 57
Bone Marrow Failure Syndrome 7, Digenic 57
Ameds 57
Bmfs7 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
digenic inheritance
variable phenotype
onset in infancy
death in childhood may occur
bone marrow transplant may be curative

Inheritance:
digenic, recessive


Classifications:



External Ids:

OMIM® 57 619151
OMIM Phenotypic Series 57 PS614675

Summaries for Amed Syndrome, Digenic

OMIM® : 57 AMED syndrome (AMEDS) is an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and poor overall growth with short stature (summary by Oka et al., 2020). For a discussion of genetic heterogeneity of bone marrow failure syndrome (BMFS), see BMFS1 (614675). (619151) (Updated 05-Apr-2021)

MalaCards based summary : Amed Syndrome, Digenic, also known as bone marrow failure syndrome 7, digenic; bmfs7, is related to methanol poisoning and alcohol dependence. An important gene associated with Amed Syndrome, Digenic is ADH5 (Alcohol Dehydrogenase 5 (Class III), Chi Polypeptide), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Drug metabolism - cytochrome P450. The drugs Telmisartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and eye.

Related Diseases for Amed Syndrome, Digenic

Diseases related to Amed Syndrome, Digenic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methanol poisoning 9.6 ALDH2 ADH5
2 alcohol dependence 9.5 ALDH2 ADH5

Symptoms & Phenotypes for Amed Syndrome, Digenic

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
poor overall growth

Head And Neck Head:
microcephaly

Hematology:
anemia
thrombocytopenia
pancytopenia
leukopenia
myelodysplastic syndrome
more
Head And Neck Eyes:
telecanthus

Neurologic Behavioral Psychiatric Manifestations:
autistic features
adhd

Head And Neck Face:
dysmorphic facial features (in some patients)

Neoplasia:
acute myeloid leukemia (1 patient)

Skeletal Feet:
displaced toes (in some patients)

Neurologic Central Nervous System:
global developmental delay
leukoencephalopathy
speech delay
learning disabilities
frontal lobe atrophy
more
Growth Height:
short stature

Skin Nails Hair Skin:
hypohidrosis
hyperpigmentation

Head And Neck Nose:
broad nasal tip
nasal ridge

Growth Weight:
poor weight gain

Endocrine Features:
hypothyroidism (in some patients)

Skeletal Hands:
long thumb (in some patients)

Clinical features from OMIM®:

619151 (Updated 05-Apr-2021)

Drugs & Therapeutics for Amed Syndrome, Digenic

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

(show top 50) (show all 604)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
2
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
3
Magnesium citrate Approved Phase 4 3344-18-1
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
5
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
6
Losartan Approved Phase 4 114798-26-4 3961
7
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
8
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
9
alemtuzumab Approved, Investigational Phase 4 216503-57-0
10
Warfarin Approved Phase 4 81-81-2 54678486 6691
11
Desogestrel Approved Phase 4 54024-22-5 40973
12
Lacidipine Approved, Investigational Phase 4 103890-78-4
13
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
14
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
15
Nicotine Approved Phase 4 54-11-5 942 89594
16
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
17
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
18
Zinc Approved, Investigational Phase 4 7440-66-6 32051
19
Ethanol Approved Phase 4 64-17-5 702
20
Prazosin Approved Phase 4 19216-56-9 4893
21
Topiramate Approved Phase 4 97240-79-4 5284627
22
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
23
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
24
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
25
Bisacodyl Approved Phase 4 603-50-9
26
Norepinephrine Approved Phase 4 51-41-2 439260
27
Frovatriptan Approved, Investigational Phase 4 158747-02-5 77992
28
parecoxib Approved Phase 4 198470-84-7
29
Cetirizine Approved Phase 4 83881-51-0 2678
30
Loratadine Approved, Investigational Phase 4 79794-75-5 3957
31
Pilocarpine Approved, Investigational Phase 4 54-71-7, 92-13-7 5910
32
Travoprost Approved Phase 4 157283-68-6 5282226
33
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
34
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
35
Brinzolamide Approved Phase 4 138890-62-7 68844
36
Propranolol Approved, Investigational Phase 4 525-66-6 4946
37
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
38
Morphine Approved, Investigational Phase 4 57-27-2 5288826
39
Insulin glargine Approved Phase 4 160337-95-1
40
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
41
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
42
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
43
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
44
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
45 Grape Approved Phase 4
46 Orange Approved Phase 4
47
Azelaic acid Approved Phase 4 123-99-9 2266
48
Interferon beta-1a Approved, Investigational Phase 4 145258-61-3 6438354
49
Tranexamic Acid Approved Phase 4 1197-18-8 5526
50
Fenofibrate Approved Phase 4 49562-28-9 3339

Interventional clinical trials:

(show top 50) (show all 595)
# Name Status NCT ID Phase Drugs
1 Characterization of Arterial Hypertension and Efficacy of Blood-pressure Lowering Therapy at Different Altitudes Above Sea Level Unknown status NCT02373163 Phase 4 Hydrochlorothiazide;Amlodipine;Telmisartan
2 Phase IV, Prospective, Randomized Study Comparing Preparation the Day Before and Split-dose Regimen With Sodium Picosulphate/Magnesium Citrate for Morning Colonoscopies Unknown status NCT01481714 Phase 4 Sodium picosulphate, magnesium oxid and citric acid;Sodium picosulphate/magnesium oxide and citric acid
3 A Clinical and Radiographic Evaluation of DFDBA (Demineralised Freeze Dried Bone Allograft) With Amniotic Membrane (AM) in the Treatment of Periodontal Osseous Defects-12 Month Randomized Controlled Clinical Trial Unknown status NCT02635529 Phase 4
4 Efficacy and Safety of Abelmoschus Manihot for Chronic Kidney Disease:a Multicentre Open Study Unknown status NCT02231138 Phase 4 Abelmoschus manihot (AM)
5 Effects of Preoperative Oral Carbohydrates Loading in Patients at High Risk of Postoperative Nausea and Vomiting Undergoing Spinal Surgery Unknown status NCT02809950 Phase 4
6 Randomized Controlled Trial of Patient Self-Testing of Warfarin Therapy Using an Internet Based Expert System Unknown status NCT00594828 Phase 4
7 Effect of Midazolam on Inflammatory Response and Organ Function in Mechanically Ventilated Sepsis Patients With Different Immune Status. Unknown status NCT02135055 Phase 4 Midazolam;Morphine
8 A Phase-IV Study Comparing Standard Release Tacrolimus (Prograf) vs Prolonged-release Tacrolimus (Advagraf) Monotherapy as Maintenance Immunosuppression After Induction With Alemtuzumab in Kidney Transplantation Unknown status NCT00807144 Phase 4 Tacrolimus (Kidney transplant maintenance immunosuppression);Kidney transplant maintenance immunosuppression
9 The Effects of Contraceptive Pill and Hormonal Vaginal Ring on Hormonal, Inflammatory and Metabolic Parameters in Women of Reproductive Age With Polycystic Ovary Syndrome (PCOS). Unknown status NCT01588873 Phase 4 oc:E-E-desogestrel/vaginal ring:E-E -ethonogestrel
10 Randomized, Double Blind, Placebo Control Trial to Evaluate the Efficacy of Astragalus Membranaceus in the Patients After Stroke With Fatigue Unknown status NCT01554787 Phase 4 Chinese Herb Astragalus membranaceus
11 The Effects of Cortisol Blockade on Nutritional Sympathetic Nervous System Responsiveness in Overweight and Obese Subjects With Metabolic Syndrome Unknown status NCT01620684 Phase 4 metyrapone;placebo
12 Effect of Lacidipine and Losartan on 24 Hour Systolic Blood Pressure Variability in Elderly Hypertensive Patients Unknown status NCT00533858 Phase 4 lacidipine (4 mg) or losartan (50 mg)
13 Impact of Smoking Cessation on Sleep Completed NCT00132821 Phase 4 Bupropion;Transdermal Nicotine Patch;Placebo Bupropion;Placebo transdermal nicotine patch
14 A Randomized, Parallel Group, Double-blind, Multi-center Study Comparing the Efficacy and Safety of AVANDAMET and Metformin After 80 Weeks of Treatment. Completed NCT00386100 Phase 4 Avandamet 6 mg/1500 mg (ttd);Avandamet 4 mg/1000 mg (ttd);Avandamet 2 mg/500 mg (ttd);Avandamet 8 mg/ 2000 mg (ttd);Metformin 500 mg (ttd);Metformin 1000 mg (ttd);Metformin 1500 mg (ttd);Metformin 2000 mg (ttd)
15 SAS115359, a Safety and Efficacy Study of Inhaled Fluticasone Propionate/Salmeterol Combination Versus Inhaled Fluticasone Propionate in the Treatment of Adolescent and Adult Subjects With Asthma Completed NCT01475721 Phase 4 ADVAIR 100/50mcg;ADVAIR 250/50mcg;ADVAIR 500/50mcg;FLOVENT 100mcg;FLOVENT 250mcg;FLOVENT 500mcg
16 Pharmacokinetics of Insulin Aspart (IAsp) Following Continuous Subcutaneous Insulin Infusion (CSII) in Patients With Type 1 Diabetes Mellitus (T1DM)- Basal Rate Resolution. Completed NCT00497536 Phase 4 Insulin Aspart (IAsp);Insulin Aspart (IAsp).;Insulin Aspart (IAsp)
17 A 6-month Safety and Benefit Study of Inhaled Fluticasone Propionate/ Salmeterol Combination Versus Inhaled Fluticasone Propionate in the Treatment of 6,200 Pediatric Subjects 4-11 Years Old With Persistent Asthma Completed NCT01462344 Phase 4 ADVAIR 100/50mcg;ADVAIR 250/50mcg;FLOVENT 100mcg;FLOVENT 250mcg
18 Long Acting Stimulant Treatment of ADHD in Young Children Completed NCT00754208 Phase 4 methylphenidate
19 The Bowel CLEAnsing: A National Initiative Completed NCT02547571 Phase 4 High volume PEG split-dose;Low volume PEG split-dose;High volume PEG non split, day before;Low volume PEG non split, same day
20 A Randomized, Single-Blind Pilot Study to Compare the Efficacy and Cost-Effectiveness of Frovatriptan vs. Topiramate for the Prevention of Migraine Completed NCT00846495 Phase 4 topiramate;frovatriptan
21 A Phase 4, Randomized, Double-blind, Multicenter, Parallel-group, Active-controlled, Dose-optimization Safety and Efficacy Study of SPD489 (VYVANSE®) Compared With OROS-MPH (CONCERTA®) With a Placebo Reference Arm, in Adolescents Aged 13-17 Years With Attention-deficit/Hyperactivity Disorder (ADHD) Completed NCT01552915 Phase 4 Lisdexamfetamine dimesylate;Methylphenidate Hydrochloride;Placebo
22 Randomized, Double Blind, Parallel Group, Placebo Controlled, Multi-Center Study of the Efficacy and Safety of Zyrtec® (Cetirizine HCl) Syrup vs. Claritin® (Loratadine) Syrup vs. Placebo in Treatment of Children With Seasonal Allergic Rhinitis (SAR) Completed NCT02932774 Phase 4 Cetirizine;Loratadine
23 A Twelve-Week, Double Masked, Parallel Group, Primary-Therapy Pilot Study of the Safety and Efficacy of Travoprost 0.004% Compared to Pilocarpine 1% in Patients With Chronic Angle-Closure Glaucoma Completed NCT00762645 Phase 4 Travoprost 0.004% (Travatan);Pilocarpine 1%
24 A Phase 4, Randomized, Double-blind, Multicenter, Parallel-group, Active-controlled, Forced-dose Titration, Safety and Efficacy Study of SPD489 (VYVANSE®) Compared With OROS-MPH (CONCERTA®) With a Placebo Reference Arm, in Adolescents Aged 13-17 Years With Attention-deficit/Hyperactivity Disorder (ADHD) Completed NCT01552902 Phase 4 Lisdexamfetamine dimesylate;Methylphenidate Hydrochloride;Placebo
25 The Effects of Topiramate on Alcohol Use in Alcohol Dependent Subjects Completed NCT00329407 Phase 4 Topiramate (Topamax)
26 Fixed Versus Flexible Dosing of Pregabalin in Patients With Fibromyalgia Completed NCT01226667 Phase 4 Pregabalin
27 Comparison of the Efficacy of AZARGA® Versus COSOPT® in Patients With Open-Angled Glaucoma or Ocular Hypertension Completed NCT01111890 Phase 4 Azarga (brinzolamide 1% / timolol 0.5%);Cosopt (dorzolamide 2% / timolol 0.5%)
28 Effectivity of Propranolol and Venlafaxine in Treatment of Vestibular Migraine: A Randomized Controlled Clinical Trial Completed NCT02350985 Phase 4 Propranolol;Venlafaxine
29 Optimizing Periconceptional and Prenatal Folic Acid Supplementation Completed NCT02300948 Phase 4 PregVit® contains 1.1 mg of folic acid;PregVit-folic 5® contains 5 mg of folic acid
30 Perioperative Parecoxib Administration for Pain Management After Total Knee Arthroplasty and Total Hip Arthroplasty-A Randomized, Placebo-controlled Trial Completed NCT02272660 Phase 4 Parecoxib sodium;Normal saline injection
31 A Twelve-Week, Double Masked, Parallel Group, Study of Travoprost 0.004% Compared to Timolol 0.5% in Patients With Open-Angle Glaucoma or Ocular Hypertension Completed NCT00763061 Phase 4 Travoprost 0.004% Ophthalmic Solution (Travatan);Timolol 0.5% Ophthalmic Solution (Timoptic)
32 Impact of Prophylactic Use of Dexmedetomidine on Postoperative Delirium in Patients After Intracranial Operation for Brain Tumor: a Pilot Randomized Controlled Trial Completed NCT04494828 Phase 4 Dexmedetomidine;Normal saline group
33 A Randomized, Pilot Study to Evaluate the Tolerability of OnabotulinumtoxinA Plus Topiramate vs. OnabotulinumtoxinA Plus Placebo and Long Term Effect of Treatment on Cognitive Efficiency and Continuation of Care Completed NCT01700387 Phase 4 onabotulinumtoxinA;Topiramate;Placebo
34 Metabolic Effect of Metformin in Obese Insulin Resistant Adolescents With Normal Glucose Tolerance Completed NCT00667498 Phase 4 Metformin;Placebo
35 An Open Label Phase 4 Study To Evaluate An Interaction Between Maraviroc And Raltegravir In Healthy Subjects Completed NCT00666705 Phase 4 Maraviroc;Maraviroc;Raltegravir;Raltegravir
36 A Double Blind, Placebo Controlled Randomized Trial Evaluating the Effects of Fluticasone Nasal Spray in Subjects With Seasonal Allergic Rhinitis and a History of Sleep Disturbance on Cognitive Performance and Daytime Sleepiness Completed NCT00997620 Phase 4 Fluticasone furoate Nasal Spray 110 mcg;Placebo
37 A Phase IV, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Single-Center Study on the Effects of a Proprietary Blend of Herbal Extract Supplement on Cellular Detoxification, Inflammation, and Cumulative Cognitive Index as Well as Gene Expression in Middle-Aged Adult Women. Completed NCT01598272 Phase 4
38 Finacea 15% and Brimonidine 0.33% Gel in the Treatment of Rosacea - A Pilot Study Completed NCT02147691 Phase 4 Azelaic acid 15%;Brimonidine 0.33%
39 Global Performance Evaluation of the AMS CONTINUUM™ Device in Facilitating Vesico-Urethral Anastomosis Following a Radical Prostatectomy Completed NCT01083199 Phase 4
40 Aspirin AM or PM in Reduction of Tension: a Randomized Cross-over Trial Completed NCT01379079 Phase 4 Acetylsalicylic acid;Acetylsalicylic acid lysinate
41 Evaluation of the Correlation Between the MS Functional Composite Index and Two Quality of Life Scales (MS54 and AMS Quality of Life) in Relapsing MS Patients Treated With Interferon Beta-1a (AVONEX®) Completed NCT00534261 Phase 4 Interferon beta-1a
42 A Double-Blind Placebo-Controlled Trial of Prazosin for the Treatment of Alcohol Dependence Completed NCT00167687 Phase 4 prazosin
43 Randomized, 2-way Crossover, Pharmacokinetic Study of Lysteda (Xanodyne Modified-Immediate Release Tranexamic Acid) Tablets at 2 Doses in Fasting Adolescent Females With Evidence of Heavy Menstrual Bleeding Completed NCT01190150 Phase 4 tranexamic acid
44 Pilot Study of the Action of the Substance P Antagonist Aprepitant on Aldosterone and Cortisol Secretion in Healthy Volunteers. Completed NCT00977223 Phase 4 aprepitant/placebo
45 Effects of Fenofibrate on Endothelial Progenitor Cell Levels in Diabetic Patients With Retinopathy. A Randomized Controlled Trial. Completed NCT01927315 Phase 4 Fenofibrate 145 mg;Placebo
46 Acute and Short-term Chronic Effects of Galvus (Vildagliptin) on Endothelial Function and Oxidative Stress on Recently Diagnosed Type 2 Diabetic Obese Women: the Role of Intestinal Peptides During Lipid Overload Completed NCT01827280 Phase 4 Vildagliptin
47 A Phase IV, Open-Label Study Evaluating the Use of Solodyn (Minocycline HCL Extended-Release Tablets), Ziana, and Triaz Foaming Cloths as Combination Acne Therapy Prior to Treatment With Isotretinoin Completed NCT01206348 Phase 4 Minocycline, Clindamycin, Tretinoin, Benzoyl Peroxide
48 Dexamethasone-suppression-test Predicts Later Development of Adrenal Insufficiency After a 14 Days' Course of Prednisone in Healthy Volunteers Completed NCT00975078 Phase 4 prednisone
49 Comparison of Nevirapine Levels With and Without Dose Escalation in HIV-infected Patients Commencing Antiretroviral Therapy Who Are Also Receiving Rifampicin Based Anti-tuberculous Therapy Completed NCT00617643 Phase 4 Nevirapine without dose escalation;Nevirapine initiation with dose escalation
50 A Cluster-Randomized Clinical Trial Of Two Educational Strategies In Cardiovascular Health (CVH) In Child Population. The Savinghearts Project Completed NCT01418872 Phase 4

Search NIH Clinical Center for Amed Syndrome, Digenic

Genetic Tests for Amed Syndrome, Digenic

Anatomical Context for Amed Syndrome, Digenic

MalaCards organs/tissues related to Amed Syndrome, Digenic:

40
Bone Marrow, Bone, Eye, Colon, Skin, Lung, Endothelial

Publications for Amed Syndrome, Digenic

Articles related to Amed Syndrome, Digenic:

(show all 42)
# Title Authors PMID Year
1
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. 6 57 61
33355142 2020
2
Alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 genotypes, alcohol drinking and the risk for esophageal cancer in a Chinese population. 6
20010786 2010
3
Major genetic components underlying alcoholism in Korean population. 6
18056758 2008
4
Pharmacokinetic and pharmacodynamic basis for partial protection against alcoholism in Asians, heterozygous for the variant ALDH2*2 gene allele. 6
17885622 2007
5
Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin. 6
16440063 2006
6
Hangover susceptibility in relation to aldehyde dehydrogenase-2 genotype, alcohol flushing, and mean corpuscular volume in Japanese workers. 6
16046871 2005
7
Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-based Japanese samples. 6
15654505 2005
8
Hangover symptoms in Asian Americans with variations in the aldehyde dehydrogenase (ALDH2) gene. 6
10627091 2000
9
Involvement of acetaldehyde for full protection against alcoholism by homozygosity of the variant allele of mitochondrial aldehyde dehydrogenase gene in Asians. 6
10780266 1999
10
The mutation in the mitochondrial aldehyde dehydrogenase (ALDH2) gene responsible for alcohol-induced flushing increases turnover of the enzyme tetramers in a dominant fashion. 6
8903321 1996
11
The aldehyde dehydrogenase ALDH2*2 allele exhibits dominance over ALDH2*1 in transduced HeLa cells. 6
7593603 1995
12
Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations. 6
4065146 1985
13
Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. 6
2987944 1985
14
Determination of genotypes of human aldehyde dehydrogenase ALDH2 locus. 6
6650498 1983
15
Structural mutation in a major human aldehyde dehydrogenase gene results in loss of enzyme activity. 6
7180842 1982
16
Caffeine increases alcohol self-administration, an effect that is independent of dopamine D2 receptor function. 61
33429015 2021
17
Alcohol mixed with energy drinks: what about taurine? 61
33175215 2021
18
Patterns of energy drinks consumption in leisure, sports and academic activities among a group of students attending University of Sarajevo, Bosnia and Herzegovina. 61
31944209 2020
19
Case report on energy drink consumption among Health Sciences University students in Gauteng Province, South Africa. 61
32435519 2020
20
Alcohol mixed energy drink use as a risk factor for experiencing and perpetrating bar aggression. 61
30843711 2019
21
Daily conformity drinking motivations are associated with increased odds of consuming alcohol mixed with energy drinks. 61
29274565 2018
22
Psychometric validation of the Anticipated Effects of Alcohol Mixed with Energy Drinks Scale. 61
28252975 2017
23
Nature versus intensity of intoxication: Co-ingestion of alcohol and energy drinks and the effect on objective and subjective intoxication. 61
28942033 2017
24
Energy Drink and Alcohol mixed Energy Drink use among high school adolescents: Association with risk taking behavior, social characteristics. 61
28388494 2017
25
Intoxication-Related Alcohol Mixed with Energy Drink Expectancies Scale: Initial Development and Validation. 61
28421613 2017
26
Characteristics of university students who mix alcohol and energy drinks. 61
28085661 2017
27
Alcohol Mixed with Energy Drinks: Daily Context of Use. 61
28207926 2017
28
Analysis of Consumption of Energy Drinks by a Group of Adolescent Athletes. 61
27483299 2016
29
Who uses alcohol mixed with energy drinks? Characteristics of college student users. 61
26010549 2016
30
Alcohol Mixed with Energy Drink Use as an Event-Level Predictor of Physical and Verbal Aggression in Bar Conflicts. 61
26727532 2016
31
Longitudinal patterns of alcohol mixed with energy drink use among college students and their associations with risky drinking and problems. 61
25978824 2015
32
Cardiovascular complications from consumption of high energy drinks: recent evidence. 61
24943288 2015
33
Can energy drinks increase the desire for more alcohol? 61
25593148 2015
34
The role of caffeine in the alcohol consumption behaviors of college students. 61
24965056 2015
35
Consumption of energy drinks, alcohol, and alcohol-mixed energy drinks among Italian adolescents. 61
24717140 2014
36
Combining alcohol and energy drinks: An examination of psychosocial constructs and alcohol outcomes among college students using a longitudinal design. 61
25346654 2014
37
Are all alcohol and energy drink users the same? Examining individual variation in relation to alcohol mixed with energy drink use, risky drinking, and consequences. 61
23528198 2014
38
Examining the relationship between alcohol-energy drink risk profiles and high-risk drinking behaviors. 61
23527941 2013
39
Mixing an energy drink with an alcoholic beverage increases motivation for more alcohol in college students. 61
22724427 2013
40
Alcohol Mixed with Energy Drink Use and Sexual Risk-Taking: Casual, Intoxicated, and Unprotected Sex. 61
24761266 2012
41
Adverse drug reactions in a complementary medicine hospital: a prospective, intensified surveillance study. 61
22315630 2012
42
Alcohol mixed with energy drinks: consumption patterns and motivations for use in U.S. college students. 61
21909303 2011

Variations for Amed Syndrome, Digenic

ClinVar genetic disease variations for Amed Syndrome, Digenic:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADH5 NM_000671.4(ADH5):c.966del (p.Gly321_Trp322insTer) Deletion Pathogenic 995825 GRCh37: 4:99993858-99993858
GRCh38: 4:99072707-99072707
2 ADH5 NM_000671.4(ADH5):c.564+1G>A SNV Pathogenic 995826 GRCh37: 4:99997854-99997854
GRCh38: 4:99076703-99076703
3 ADH5 NM_000671.4(ADH5):c.832G>C (p.Ala278Pro) SNV Pathogenic 995827 GRCh37: 4:99996194-99996194
GRCh38: 4:99075043-99075043
4 ALDH2 NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) SNV Pathogenic 18390 rs671 GRCh37: 12:112241766-112241766
GRCh38: 12:111803962-111803962

Expression for Amed Syndrome, Digenic

Search GEO for disease gene expression data for Amed Syndrome, Digenic.

Pathways for Amed Syndrome, Digenic

Pathways related to Amed Syndrome, Digenic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 ALDH2 ADH5
2
Show member pathways
11.99 ALDH2 ADH5
3
Show member pathways
11.79 ALDH2 ADH5
4
Show member pathways
11.41 ALDH2 ADH5
5
Show member pathways
10.11 ALDH2 ADH5

GO Terms for Amed Syndrome, Digenic

Biological processes related to Amed Syndrome, Digenic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.16 ALDH2 ADH5
2 electron transport chain GO:0022900 8.96 ALDH2 ADH5
3 ethanol oxidation GO:0006069 8.62 ALDH2 ADH5

Molecular functions related to Amed Syndrome, Digenic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.96 ALDH2 ADH5
2 electron transfer activity GO:0009055 8.62 ALDH2 ADH5

Sources for Amed Syndrome, Digenic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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