MEDS
MCID: MCR209
MIFTS: 47

Microcephaly, Epilepsy, and Diabetes Syndrome (MEDS)

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

Aliases & Classifications for Microcephaly, Epilepsy, and Diabetes Syndrome

MalaCards integrated aliases for Microcephaly, Epilepsy, and Diabetes Syndrome:

Name: Microcephaly, Epilepsy, and Diabetes Syndrome 56 73 29 13 6 71
Meds 56 73
Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome 58
Microcephaly, Epilepsy, Diabetes Syndrome 39

Characteristics:

Orphanet epidemiological data:

58
primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death often in early childhood


HPO:

31
microcephaly, epilepsy, and diabetes syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Microcephaly, Epilepsy, and Diabetes Syndrome

OMIM : 56 MEDS is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by Poulton et al., 2011). (614231)

MalaCards based summary : Microcephaly, Epilepsy, and Diabetes Syndrome, also known as meds, is related to multiple epiphyseal dysplasia and epiphyseal dysplasia, multiple, with early-onset diabetes mellitus, and has symptoms including seizures and myoclonic seizures. An important gene associated with Microcephaly, Epilepsy, and Diabetes Syndrome is IER3IP1 (Immediate Early Response 3 Interacting Protein 1). The drugs Ibuprofen and Etoricoxib have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skin, and related phenotypes are osteopenia and gingival overgrowth

UniProtKB/Swiss-Prot : 73 Microcephaly, epilepsy, and diabetes syndrome: An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes.

Related Diseases for Microcephaly, Epilepsy, and Diabetes Syndrome

Diseases related to Microcephaly, Epilepsy, and Diabetes Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 431)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 12.4
2 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.9
3 primary mediastinal large b-cell lymphoma 11.2
4 medulloblastoma 10.3
5 depression 10.3
6 major depressive disorder 10.2
7 mental depression 10.2
8 48,xyyy 10.2
9 periodontal ehlers-danlos syndrome 10.2
10 47,xyy 10.1
11 osteoporosis 10.1
12 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
13 bone mineral density quantitative trait locus 8 10.1
14 bone mineral density quantitative trait locus 15 10.1
15 toxic shock syndrome 10.1
16 spinal cord injury 10.1
17 branchiootic syndrome 1 10.1
18 sleep apnea 10.1
19 benign mesothelioma 10.1
20 kidney disease 10.1
21 back pain 10.1
22 down syndrome 10.0
23 pulmonary disease, chronic obstructive 10.0
24 alacrima, achalasia, and mental retardation syndrome 10.0
25 cardiac arrest 10.0
26 relapsing-remitting multiple sclerosis 10.0
27 ischemia 10.0
28 osteoarthritis 10.0
29 glioma 10.0
30 glial tumor 10.0
31 colorectal cancer 10.0
32 hypercholesterolemia, familial, 1 10.0
33 renal cell carcinoma, nonpapillary 10.0
34 hypertension, essential 10.0
35 schistosoma mansoni infection, susceptibility/ 10.0
36 thrombophilia due to thrombin defect 10.0
37 ataxia and polyneuropathy, adult-onset 10.0
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
39 microcephaly 10.0
40 neutropenia 10.0
41 familial hypercholesterolemia 10.0
42 schistosomiasis 10.0
43 dermatitis 10.0
44 myeloid leukemia 10.0
45 leukoplakia 10.0
46 oral leukoplakia 10.0
47 traumatic brain injury 10.0
48 bladder cancer 9.9
49 mesothelioma, malignant 9.9
50 pseudoachondroplasia 9.9

Graphical network of the top 20 diseases related to Microcephaly, Epilepsy, and Diabetes Syndrome:



Diseases related to Microcephaly, Epilepsy, and Diabetes Syndrome

Symptoms & Phenotypes for Microcephaly, Epilepsy, and Diabetes Syndrome

Human phenotypes related to Microcephaly, Epilepsy, and Diabetes Syndrome:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 occasional (7.5%) HP:0000938
2 gingival overgrowth 31 occasional (7.5%) HP:0000212
3 cryptorchidism 31 occasional (7.5%) HP:0000028
4 optic atrophy 31 occasional (7.5%) HP:0000648
5 pathologic fracture 31 occasional (7.5%) HP:0002756
6 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
7 hypogonadism 31 occasional (7.5%) HP:0000135
8 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
9 scrotal hypoplasia 31 occasional (7.5%) HP:0000046
10 microalbuminuria 31 occasional (7.5%) HP:0012594
11 ptosis 31 HP:0000508
12 high palate 31 HP:0000218
13 diabetes mellitus 31 HP:0000819
14 global developmental delay 31 HP:0001263
15 recurrent respiratory infections 31 HP:0002205
16 feeding difficulties 31 HP:0011968
17 neonatal hypotonia 31 HP:0001319
18 microcephaly 31 HP:0000252
19 anteverted nares 31 HP:0000463
20 full cheeks 31 HP:0000293
21 narrow forehead 31 HP:0000341
22 tented upper lip vermilion 31 HP:0010804
23 generalized myoclonic seizures 31 HP:0002123
24 jaundice 31 HP:0000952
25 hypsarrhythmia 31 HP:0002521
26 hypoplasia of the corpus callosum 31 HP:0002079
27 brisk reflexes 31 HP:0001348
28 delayed myelination 31 HP:0012448
29 intellectual disability, profound 31 HP:0002187
30 muscular hypotonia of the trunk 31 HP:0008936
31 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
hypsarrhythmia
brisk reflexes
delayed myelination
myoclonic seizures
more
Head And Neck Nose:
anteverted nares

Head And Neck Mouth:
high-arched palate
tented upper lip
gingival hypertrophy (in some patients)

Abdomen Gastrointestinal:
poor feeding

Muscle Soft Tissue:
hypotonia, neonatal
edema of hands and feet (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism (1 patient)

Genitourinary External Genitalia Male:
hypoplastic scrotum (2 patients)
small genitalia (2 patients)

Endocrine Features:
diabetes mellitus, infantile
few and small islets of langerhans
hypogonadism (2 patients)

Respiratory:
recurrent respiratory infections

Skin Nails Hair Skin:
jaundice

Head And Neck Face:
bitemporal narrowing
short forehead
puffy cheeks

Skeletal:
osteopenia (in some patients)

Head And Neck Eyes:
poor visual fixation
optic atrophy (1 patient)

Head And Neck Head:
microcephaly (-3 to -9 sd)

Skeletal Limbs:
cortical thinning of the long bones (in some patients)
pathologic fractures (in some patients)

Laboratory Abnormalities:
elevated liver enzymes (in some patients)
microalbuminuria (in some patients)

Clinical features from OMIM:

614231

UMLS symptoms related to Microcephaly, Epilepsy, and Diabetes Syndrome:


seizures, myoclonic seizures

Drugs & Therapeutics for Microcephaly, Epilepsy, and Diabetes Syndrome

Drugs for Microcephaly, Epilepsy, and Diabetes Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 344)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 4 15687-27-1 3672
2
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
6
Insulin glargine Approved Phase 4 160337-95-1
7
Insulin glulisine Approved Phase 4 207748-29-6
8
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
9
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
10
Racepinephrine Approved Phase 4 329-65-7 838
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
13
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
14
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
15
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
16 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
17
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
18
Nitric Oxide Approved Phase 4 10102-43-9 145068
19
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
20
Ethanol Approved Phase 4 64-17-5 702
21
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
22
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
23
Acetaminophen Approved Phase 4 103-90-2 1983
24
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
25
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
26
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
27
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
28
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
29
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
30
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
31
Pantoprazole Approved Phase 4 102625-70-7 4679
32
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
33
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
34
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
35
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
36
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
37
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
38 Calcium, Dietary Phase 4
39 Trace Elements Phase 4
40 Vitamins Phase 4
41 Micronutrients Phase 4
42 Citrate Phase 4
43 Ergocalciferols Phase 4
44 Calciferol Phase 4
45 Vitamin D2 Phase 4
46 Adjuvants, Anesthesia Phase 4
47 Anesthetics, General Phase 4
48 Anesthetics, Intravenous Phase 4
49 Angiotensin-Converting Enzyme Inhibitors Phase 4
50 Adrenergic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 124)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Intravenous Acetaminophen During The Perioperative Period Of Neurosurgical Patients Undergoing Craniotomies Unknown status NCT01739699 Phase 4 Acetaminophen;Placebo
2 Evaluation of the Efficacy and Tolerability of Etoricoxib Monotherapy Versus Combination Oxycodone-etoricoxib in Moderate to Severe Pain From Chronic Low Back Pain Unknown status NCT01344720 Phase 4 etoricoxib;oxycodone
3 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
4 Randomized Controlled Trial Evaluating the Additive Value of Intranasal Fentanyl on Ibuprofen in the Pain Management of Children With Moderate to Severe Headaches Unknown status NCT02638506 Phase 4 Fentanyl
5 Single Blinded, Randomized Control Trial of High Frequency Stimulation in Subjects With Precision® Spinal Cord Stimulator System to Assess Efficacy and Preferability in Back and Extremity Pain Relief Completed NCT02265848 Phase 4
6 A Prospective, Single-Blinded, Randomized Study of Awake vs Intubated General Anesthesia in Patients Undergoing Elective Craniotomy for Supratentorial Glioma Resection Completed NCT02193568 Phase 4
7 Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN) Completed NCT00708981 Phase 4
8 Double Blind Placebo Controlled Study of Depakote (Divalproex Sodium) in Children With Temper Outbursts and Severe Mood Swings Completed NCT02078596 Phase 4 Divalproex
9 Comparison Between Single Shot Peripheral Nerve Block and Continuous Infusion Via a On-Q Pump in Extremity Fracture Operations: a Randomized Prospective Control Trial Completed NCT02280291 Phase 4 lidocaine;Propofol;Fentanyl;epinephrine,;bupivacaine
10 Personalized Treatments for Depressive Symptoms in Patients With Advanced Heart Failure Recruiting NCT03688100 Phase 4 Medication Management
11 A Phase IV Trial of Neuroprotection With ACTH in Acute Optic Neuritis Recruiting NCT01838174 Phase 4 ACTHAR Gel (ACTH);IV methylprednisolone (steroids)
12 Role of Decreased Nitric Oxide in the Tonic Elevation of Resting Sympathetic Nerve Activity in Chronic Kidney Disease Patients Recruiting NCT03982160 Phase 4 L-Arginine
13 Perioperative Visual Therapy May Help Prevent Phantom Limb Pain Recruiting NCT02383979 Phase 4
14 The Effect of Antihypertensive Medication Timing on Morbidity and Mortality: The "BedMed" RCT Recruiting NCT02990663 Phase 4
15 Assessment of and Treatment Applied to Food Addiction to Encourage Self-Management of Obesity in a Rural Healthy Behaviors Clinic Active, not recruiting NCT03431831 Phase 4 Contrave;Contrave and Counseling
16 A Randomized Double-blinded Study to Evaluate Preincisional Dextromethorphan in Patients Undergoing Total Knee Arthroplasty and Its Effect on Postoperative Opioid Use Terminated NCT02987920 Phase 4 Dextromethorphan;Placebo - Concentrate;Acetaminophen;Oxycodone;Celecoxib;Pantoprazole;Ketorolac;Gabapentin;Hydromorphone
17 The Role of Theramine® in the Prevention of Migraine Headache: A Pilot Study Terminated NCT01944059 Phase 4 Theramine (medical food/old drug)
18 Sacubitril-valsartan (Entresto) Versus Standard Anti-hypertensive Therapy in LVAD Patients - A Feasibility Pilot Study Withdrawn NCT03279861 Phase 4 Entresto;Valsartan
19 A Randomized, Double-Blind, Histamine-Controlled, Phase 3 Study to Determine the Safety and Efficacy of Bee Venom in the Treatment of Knee Osteoarthritis Unknown status NCT00253942 Phase 3
20 Combination Risedronate - Parathyroid Hormone Trial in Male Osteoporosis Completed NCT01611571 Phase 3 Risedronate;Teriparatide;Placebo Teriparatide;placebo Risedronate
21 African American Study of Kidney Disease and Hypertension ABPM Pilot Study Completed NCT00582777 Phase 2, Phase 3 ADD On Dosing
22 Caffeine as a Therapeutic Agent in Parkinson's Disease Completed NCT01738178 Phase 3 Caffeine;Placebo
23 CSP #424 - Clinical Outcomes Utilizing Revascularization and Aggressive Drug Evaluation Completed NCT00007657 Phase 3
24 BNP as Adjuvant Therapy to Preserve Renal Function and Facilitate Diuresis in Hospitalized Patients With Heart Failure Completed NCT00170183 Phase 3 Nesiritide
25 Intravenous Acetaminophen as Adjuvant Therapy for Pain Control in Geriatric Hip Fracture Patients Withdrawn NCT01520298 Phase 3 Placebo;Acetaminophen IV
26 Safety and Tolerability of Modafinil for Methamphetamine Dependence Completed NCT00569374 Phase 2 Modafinil
27 Effects of Nasulin v.Placebo on Blood Glucose Control in Patients With Type 2 DM Treated With Basal Insulin & Oral Antidiabetic Meds, Excluding Secretagogues in Phase 2A, Randomized, Parallel, Double-Blind, Placebo-Controlled, Multi-Center Study Completed NCT00850096 Phase 2 Nasulin
28 A Phase II, Randomized, Double-Blind Pilot Trial of VIVITROL® (Naltrexone for Extended-Release Injectable Suspension) for the Treatment of Cocaine and Alcohol Dependence Completed NCT00777062 Phase 2 VIVITROL (Naltrexone extended-release injectable suspension);Placebo
29 Phase II Study of Efficacy of ICI 182,780 (Faslodex) in the Treatment of Systemic Lupus Erythematosus: Clinical, Serologic, Molecular Completed NCT00417430 Phase 2 ICI 182,780 (Faslodex)
30 Biomarkers of Lupus Disease: Study of Biomarker Changes Before and After Treatment With Depomedrol and Background Medication Withdrawal in Patients With Mild to Moderate SLE Disease Activity Completed NCT00987831 Phase 1, Phase 2 Group A SLE prospective study
31 Double Blind Placebo Controlled Study of Outpatient Intravenous Ketamine for the Treatment of CRPS Completed NCT00579085 Phase 2 Ketamine
32 Testosterone and Physical Function in HIV Associate Weight Loss Completed NCT00260143 Phase 2 Testosterone enanthate;Placebo
33 Locally Advanced Breast Cancer: Individualized Treatment Based On Tumor Molecular Characteristics Terminated NCT02297230 Phase 1, Phase 2 Capecitabine;Trastuzumab;Paclitaxel
34 A Proof of Concept Trial of Gleevec (Imatinib) in Active Diffuse Scleroderma Terminated NCT01545427 Phase 2 Imatinib mesylate
35 A Phase II Study of Albumin Bound-Paclitaxel (AbraxaneTM) for Treatment of Recurrent or Metastatic Head and Neck Cancer With the Addition of Cetuximab (Erbitux) (IMC-225) on Disease Progression Terminated NCT00319839 Phase 2 Abraxane;Cetuximab
36 Active Preoperative Anemia Management to Reduce Erythrocyte Transfusion in Patients Undergoing Cardiac Surgery (APART): A Pilot, Feasibility Study Terminated NCT02189889 Phase 1, Phase 2 EPO;Feraheme
37 The Effect of Cinnamon Cassia on Diabetes Control and Cardiometabolic Risk Factors in Adults With Type 2 Diabetes Mellitus Withdrawn NCT02942056 Phase 2 Cinnamon;placebo
38 Single Centre, Subject and Observer Blinded, Placebo Controlled, Cross-over Study of the Effect of Oral Ibuprofen and Topical Hydrocortisone-21-acetate on Ultraviolet Radiation (UVR) Induced Pain and Inflammation in Healthy Volunteers Completed NCT01055249 Phase 1 Ibuprofen, Hydrocortisone;Hydrocortisone
39 A Phase 1, Randomized Double-Blind, Placebo-Controlled, Single Ascending Dose Safety, Tolerability, and Pharmacokinetics Study of SAB-301 in Healthy Adults Completed NCT02788188 Phase 1
40 An Open‐Label Extension Study of the Long‐Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP‐β‐CD) in Patients With Niemann‐Pick Disease Type C (NPC‐1) Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
41 Polypharmacy and Clinically Significant Drug Interactions Among HIV-Infected Patients Receiving Antiretroviral Therapy in The Region Of Madrid: A Population-Based, Cross-Sectional Study Unknown status NCT03123575
42 PILOT: Home Telemonitoring for Self-Management Education of Patients With Lung Ca Unknown status NCT01670539
43 Post-Operative Pain Management in Patients Undergoing Uterine Artery Embolisation for Symptomatic Leiomyomata Unknown status NCT00163930
44 Statistical Analysis Plan for an Individual Patient Data Meta-analysis of Three, International, Multicentre, Randomised, Controlled Trials Comparing Protocolised With Usual Resuscitation in Patients Presenting to the Emergency Department With Severe Sepsis and Septic Shock Unknown status NCT02030158
45 DNA Sequencing of MDR TB in Eastern Siberia Unknown status NCT02508610
46 Prairie Renal Denervation Study Unknown status NCT01832233
47 ACL Repair and Multimodal Analgesia Completed NCT01868425 multimodal:acetaminophen, gabapentin, ketamine, bupivacaine;placebo pills and injectables
48 A Mixed Methods Approach to the Development and Testing of the Measure of Drug Self-Management (MeDS), an Assessment for Use in Clinical Settings Among English and Spanish-speaking Patients With Hypertension and Diabetes. Completed NCT01998269
49 Randomized Pilot Trial of the Impact of Bedside Delivery of Discharge Medications Completed NCT02336490
50 Heart Failure Medication Adherence Study Completed NCT03402750

Search NIH Clinical Center for Microcephaly, Epilepsy, and Diabetes Syndrome

Genetic Tests for Microcephaly, Epilepsy, and Diabetes Syndrome

Genetic tests related to Microcephaly, Epilepsy, and Diabetes Syndrome:

# Genetic test Affiliating Genes
1 Microcephaly, Epilepsy, and Diabetes Syndrome 29 IER3IP1

Anatomical Context for Microcephaly, Epilepsy, and Diabetes Syndrome

MalaCards organs/tissues related to Microcephaly, Epilepsy, and Diabetes Syndrome:

40
Heart, Brain, Skin, Liver, Kidney, Bone, Testes

Publications for Microcephaly, Epilepsy, and Diabetes Syndrome

Articles related to Microcephaly, Epilepsy, and Diabetes Syndrome:

(show top 50) (show all 724)
# Title Authors PMID Year
1
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). 61 56 6
22991235 2012
2
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 56 6
24138066 2014
3
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 56 6
21835305 2011
4
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. 56 6
16972080 2006
5
Anchor Institutions: Best Practices to Address Social Needs and Social Determinants of Health. 61
31944837 2020
6
Evaluation of a Ultraviolet B Light Emitting Diode (LED) for Producing Vitamin D3 in Human Skin. 61
32014913 2020
7
Outcomes of 360° suture trabeculotomy after unsuccessful canaloplasty. 61
31811364 2020
8
Five-year Reoperation Rates and Causes for Reoperations Following Lumbar Microendoscopic Discectomy and Decompression. 61
31415462 2020
9
Comparison of multimodal, sliding scale acute pain protocols with traditional prescribing in non-surgical patients. 61
31549932 2020
10
Trends in mesenchymal stem cell clinical trials 2004-2018: Is efficacy optimal in a narrow dose range? 61
31804767 2020
11
Versatile electrochemical approaches towards the fabrication of molecular electronic devices. 61
31971167 2020
12
Exploring the experiences of people in Ontario, Canada who have trouble affording medicines: a qualitative concept mapping study. 61
31888944 2019
13
Sepsis patient evaluation emergency department (SPEED) score & mortality in emergency department sepsis (MEDS) score in predicting 28-day mortality of emergency sepsis patients. 61
31761698 2019
14
Outcome prediction using the Mortality in Emergency Department Sepsis score combined with procalcitonin for influenza patients. 61
31174861 2019
15
Performance of the MEDS score in predicting mortality among emergency department patients with a suspected infection: a meta-analysis. 61
31836584 2019
16
How to use type 2 diabetes meds to lower CV disease risk. 61
31725134 2019
17
Impact of discharge medication bedside delivery service on hospital reutilization. 61
31724038 2019
18
Insecticidal and repellent properties of novel trifluoromethylphenyl amides III. 61
31685196 2019
19
Epidemiological, Poisoning Characteristics and Treatment Outcomes of Patients Admitted to the National Poisoning Control Centre at Karachi, Pakistan: A Six Month Analysis. 61
31890428 2019
20
Patient Trade-Offs Related to Analgesic Use for Cancer Pain: A MaxDiff Analysis Study. 61
31648906 2019
21
Increasing evidence of pathogenic role of the Mediator (MED) complex in the development of cardiovascular diseases. 61
31255603 2019
22
Effect on Treatment Adherence of Distributing Essential Medicines at No Charge: The CLEAN Meds Randomized Clinical Trial. 61
31589276 2019
23
Impact of an Advanced Pharmacy Practice Experience Student-Run "Meds 2 Beds" and Discharge Counseling Program on Quality of Care. 61
31555007 2019
24
Long-term Outcomes Following Lumbar Microendoscopic Diskectomy and Microendoscopic Decompression: Minimum 10-year Follow-up Evaluation Performed Using a Patient-based Outcome Measure. 61
31581302 2019
25
Invest in METs, Not in Meds. 61
31331613 2019
26
Epidermal Langerhans cells resistance to solar-simulated radiation in actinic prurigo patients with low minimal erythema dose. 61
31541482 2019
27
Evaluating driving abilities of patients under opioid treatment for chronic pain, by using the Vienna Test System and a newly released APP for smartphones (APP SafeDrive). The old and the new. 61
31971522 2019
28
Association of Perioperative Opioid-Sparing Multimodal Analgesia With Narcotic Use and Pain Control After Head and Neck Free Flap Reconstruction. 61
31393513 2019
29
The Association Between Obstructive Sleep Apnea Characterized by a Minimum 3 Percent Oxygen Desaturation or Arousal Hypopnea Definition and Hypertension. 61
31538597 2019
30
Predictive factors for secondary intensive care unit admission within 48 hours after hospitalization in a medical ward from the emergency room. 61
31524647 2019
31
The Mediterranean Diet and 2-Year Change in Cognitive Function by Status of Type 2 Diabetes and Glycemic Control. 61
31123154 2019
32
In Vivo Evaluation of the Anti-Inflammatory Activity of Electrospun Micro/Nanofibrous Patches Loaded with Pinus halepensis Bark Extract on Hairless Mice Skin. 61
31443178 2019
33
Implementation of an Opioid Guideline Impacts on Opioid Prescriptions, Adverse Outcomes, and an Association with a State Opioid-Related Fatalities. 61
31348425 2019
34
Validation of the mortality in emergency department sepsis (MEDS) score in a Singaporean cohort. 61
31441900 2019
35
What are the costs of glenohumeral osteoarthritis in the year prior to a total shoulder arthroplasty (TSA)? 61
31213113 2019
36
Tele-Audiological Surveillance of Middle Ear Status among Individuals with Cleft Lip and/or Palate in Rural South India. 61
31304913 2019
37
Patient perspectives on medication self-management in rural Kenya: a cross-sectional survey. 61
30256956 2019
38
The effects of provider-prescribed obesogenic drugs on post-laparoscopic sleeve gastrectomy outcomes: a retrospective cohort study. 61
30242239 2019
39
Public Health Messages Associated with Low UV Index Values Need Reconsideration. 61
31212727 2019
40
Risk stratification and prognostic evaluation of endothelial cell-specific molecule1, von Willebrand factor, and a disintegrin-like and metalloprotease with thrombospondin type 1 motif for sepsis in the emergency department: An observational study. 61
31086585 2019
41
Blister Packaging Medications for Adherence for American Indians/Alaska Natives in the Outpatient Setting. 61
31248338 2019
42
Bedside medication delivery programs: suggestions for systematic evaluation and reporting. 61
31053860 2019
43
Integrating Public Health and Health Care Strategies to Address the Opioid Epidemic: The Oregon Health Authority's Opioid Initiative. 61
30048336 2019
44
Combining Heart Rate Variability with Disease Severity Score Variables for Mortality Risk Stratification in Septic Patients Presenting at the Emergency Department. 61
31100830 2019
45
MEDS score and vitamin D status are independent predictors of mortality in a cohort of Internal Medicine patients with microbiological identified sepsis. 61
31115033 2019
46
Validation of MEDS score in predicting short-term mortality of adults with community-onset bacteremia. 61
31301873 2019
47
Progressive reduction of hospital length of stay following minimally invasive repair of pectus excavatum: A retrospective comparison of three analgesia modalities, the role of addressing patient anxiety, and reframing patient expectations. 61
30686518 2019
48
Development of the medication adherence estimation and differentiation scale (MEDS). 61
30106315 2019
49
Effect of Novartis Access on availability and price of non-communicable disease medicines in Kenya: a cluster-randomised controlled trial. 61
30799142 2019
50
Bioassay-guided isolation of active compounds from Adenosma buchneroides essential oil as mosquito repellent against Aedes albopictus. 61
30471377 2019

Variations for Microcephaly, Epilepsy, and Diabetes Syndrome

ClinVar genetic disease variations for Microcephaly, Epilepsy, and Diabetes Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IER3IP1 NM_016097.5(IER3IP1):c.80del (p.Phe27fs)deletion Pathogenic 208459 rs863223399 18:44702569-44702569 18:47176198-47176198
2 IER3IP1 NM_016097.5(IER3IP1):c.62T>G (p.Val21Gly)SNV Pathogenic 30785 rs387907011 18:44702587-44702587 18:47176216-47176216
3 IER3IP1 NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro)SNV Pathogenic 30786 rs387907012 18:44682564-44682564 18:47156193-47156193
4 IER3IP1 NM_016097.5(IER3IP1):c.223A>G (p.Ile75Val)SNV Uncertain significance 472569 rs536988795 18:44682574-44682574 18:47156203-47156203
5 IER3IP1 NC_000018.9:g.(?_44682528)_(44702668_?)dupduplication Uncertain significance 539836 18:44682528-44702668 18:47156157-47176297
6 IER3IP1 NM_016097.5(IER3IP1):c.215C>T (p.Ser72Leu)SNV Uncertain significance 539835 rs200201845 18:44682582-44682582 18:47156211-47156211
7 IER3IP1 NM_016097.5(IER3IP1):c.217A>G (p.Ile73Val)SNV Uncertain significance 581459 rs923756205 18:44682580-44682580 18:47156209-47156209
8 IER3IP1 NM_016097.5(IER3IP1):c.239T>G (p.Leu80Ter)SNV Uncertain significance 655282 18:44682558-44682558 18:47156187-47156187
9 IER3IP1 NM_016097.5(IER3IP1):c.2T>A (p.Met1Lys)SNV Uncertain significance 656356 18:44702647-44702647 18:47176276-47176276
10 IER3IP1 NM_016097.5(IER3IP1):c.138G>A (p.Pro46=)SNV Likely benign 472568 rs371854032 18:44683862-44683862 18:47157491-47157491

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Epilepsy, and Diabetes Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 IER3IP1 p.Val21Gly VAR_066569 rs387907011
2 IER3IP1 p.Leu78Pro VAR_066570 rs387907012

Expression for Microcephaly, Epilepsy, and Diabetes Syndrome

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Pathways for Microcephaly, Epilepsy, and Diabetes Syndrome

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