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 57 74 29 13 6 72
Meds 57 74
Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome 59
Microcephaly, Epilepsy, Diabetes Syndrome 40

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death often in early childhood


HPO:

32
microcephaly, epilepsy, and diabetes syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 614231
Orphanet 59 ORPHA306558
MedGen 42 C3280240
UMLS 72 C3280240

Summaries for Microcephaly, Epilepsy, and Diabetes Syndrome

OMIM : 57 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 brain, heart and skin, and related phenotypes are osteopenia and gingival overgrowth

UniProtKB/Swiss-Prot : 74 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 424)
# 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 back pain 10.1
21 pulmonary disease, chronic obstructive 10.0
22 alacrima, achalasia, and mental retardation syndrome 10.0
23 cardiac arrest 10.0
24 relapsing-remitting multiple sclerosis 10.0
25 ischemia 10.0
26 kidney disease 10.0
27 osteoarthritis 10.0
28 glioma 10.0
29 glial tumor 10.0
30 colorectal cancer 10.0
31 hypercholesterolemia, familial, 1 10.0
32 hypertension, essential 10.0
33 schistosoma mansoni infection, susceptibility/ 10.0
34 thrombophilia due to thrombin defect 10.0
35 down syndrome 10.0
36 ataxia and polyneuropathy, adult-onset 10.0
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
38 neutropenia 10.0
39 familial hypercholesterolemia 10.0
40 schistosomiasis 10.0
41 microcephaly 10.0
42 leukoplakia 10.0
43 oral leukoplakia 10.0
44 brain injury 10.0
45 traumatic brain injury 10.0
46 bladder cancer 9.9
47 renal cell carcinoma, nonpapillary 9.9
48 mesothelioma, malignant 9.9
49 pseudoachondroplasia 9.9
50 cystic fibrosis 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:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 occasional (7.5%) HP:0000938
2 gingival overgrowth 32 occasional (7.5%) HP:0000212
3 optic atrophy 32 occasional (7.5%) HP:0000648
4 pathologic fracture 32 occasional (7.5%) HP:0002756
5 cryptorchidism 32 occasional (7.5%) HP:0000028
6 elevated hepatic transaminase 32 occasional (7.5%) HP:0002910
7 hypogonadism 32 occasional (7.5%) HP:0000135
8 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
9 scrotal hypoplasia 32 occasional (7.5%) HP:0000046
10 microalbuminuria 32 occasional (7.5%) HP:0012594
11 high palate 32 HP:0000218
12 ptosis 32 HP:0000508
13 diabetes mellitus 32 HP:0000819
14 global developmental delay 32 HP:0001263
15 recurrent respiratory infections 32 HP:0002205
16 microcephaly 32 HP:0000252
17 anteverted nares 32 HP:0000463
18 neonatal hypotonia 32 HP:0001319
19 full cheeks 32 HP:0000293
20 narrow forehead 32 HP:0000341
21 tented upper lip vermilion 32 HP:0010804
22 feeding difficulties 32 HP:0011968
23 generalized myoclonic seizures 32 HP:0002123
24 jaundice 32 HP:0000952
25 hypsarrhythmia 32 HP:0002521
26 intellectual disability, profound 32 HP:0002187
27 brisk reflexes 32 HP:0001348
28 hypoplasia of the corpus callosum 32 HP:0002079
29 delayed myelination 32 HP:0012448
30 muscular hypotonia of the trunk 32 HP:0008936
31 simplified gyral pattern 32 HP:0009879

Symptoms via clinical synopsis from OMIM:

57
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 358)
# 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 2180-92-9, 38396-39-3 2474
6
Insulin glargine Approved Phase 4 160337-95-1
7
Insulin glulisine Approved Phase 4 207748-29-6
8
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
9
Racepinephrine Approved Phase 4 329-65-7 838
10
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
13
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
14
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
15
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
16
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
17
Nitric Oxide Approved Phase 4 10102-43-9 145068
18
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
19
Ethanol Approved Phase 4 64-17-5 702
20
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
21
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
22
Acetaminophen Approved Phase 4 103-90-2 1983
23
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
24
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
25
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
26
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
27
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
28
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
29
Pantoprazole Approved Phase 4 102625-70-7 4679
30
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
31
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
32
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
33
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
34
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
35
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
36
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
37 Calcium, Dietary Phase 4
38 Bone Density Conservation Agents Phase 4
39 Micronutrients Phase 4
40 Trace Elements Phase 4
41 Vitamins Phase 4
42 Citrate Phase 4
43 Vitamin D2 Phase 4
44 Ergocalciferols Phase 4
45 Calciferol Phase 4
46 Anesthetics, Intravenous Phase 4
47 Adjuvants, Anesthesia Phase 4
48 Anesthetics, General Phase 4
49 Adrenergic Agents Phase 4
50 Angiotensin-Converting Enzyme Inhibitors 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 Perioperative Visual Therapy May Help Prevent Phantom Limb Pain Unknown status NCT02383979 Phase 4
4 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
5 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
6 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
7 Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN) Completed NCT00708981 Phase 4
8 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
9 Double Blind Placebo Controlled Study of Depakote (Divalproex Sodium) in Children With Temper Outbursts and Severe Mood Swings Completed NCT02078596 Phase 4 Divalproex
10 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
11 Personalized Treatments for Depressive Symptoms in Patients With Advanced Heart Failure Recruiting NCT03688100 Phase 4 Medication Management
12 A Phase IV Trial of Neuroprotection With ACTH in Acute Optic Neuritis Recruiting NCT01838174 Phase 4 ACTHAR Gel (ACTH);IV methylprednisolone (steroids)
13 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
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 Active Preoperative Anemia Management to Reduce Erythrocyte Transfusion in Patients Undergoing Cardiac Surgery (APART): A Pilot, Feasibility Study Recruiting NCT02189889 Phase 1, Phase 2 EPO;Feraheme
34 Locally Advanced Breast Cancer: Individualized Treatment Based On Tumor Molecular Characteristics Terminated NCT02297230 Phase 1, Phase 2 Capecitabine;Trastuzumab;Paclitaxel
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 A Proof of Concept Trial of Gleevec (Imatinib) in Active Diffuse Scleroderma Terminated NCT01545427 Phase 2 Imatinib mesylate
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 ACL Repair and Multimodal Analgesia Completed NCT01868425 multimodal:acetaminophen, gabapentin, ketamine, bupivacaine;placebo pills and injectables
47 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
48 Randomized Pilot Trial of the Impact of Bedside Delivery of Discharge Medications Completed NCT02336490
49 Heart Failure Medication Adherence Study Completed NCT03402750
50 Control of Trichomoniasis - A Paradigm for STD Control Completed NCT00334555

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:

41
Brain, Heart, Skin, Testes, Bone, Liver, Kidney

Publications for Microcephaly, Epilepsy, and Diabetes Syndrome

Articles related to Microcephaly, Epilepsy, and Diabetes Syndrome:

(show top 50) (show all 697)
# Title Authors PMID Year
1
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). 38 8 71
22991235 2012
2
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 8 71
24138066 2014
3
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 8 71
21835305 2011
4
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. 8 71
16972080 2006
5
Five-Year Reoperation Rates and Causes for Reoperations Following Lumbar Microendoscopic Discectomy and Decompression. 38
31415462 2019
6
Implementation of an Opioid Guideline Impacts on Opioid Prescriptions, Adverse Outcomes, and an Association with a State Opioid-Related Fatalities. 38
31348425 2019
7
The Mediterranean Diet and 2-Year Change in Cognitive Function by Status of Type 2 Diabetes and Glycemic Control. 38
31123154 2019
8
Association of Perioperative Opioid-Sparing Multimodal Analgesia With Narcotic Use and Pain Control After Head and Neck Free Flap Reconstruction. 38
31393513 2019
9
Invest in METs, Not in Meds. 38
31331613 2019
10
What are the costs of glenohumeral osteoarthritis in the year prior to a total shoulder arthroplasty (TSA)? 38
31213113 2019
11
Tele-Audiological Surveillance of Middle Ear Status among Individuals with Cleft Lip and/or Palate in Rural South India. 38
31304913 2019
12
Increasing evidence of pathogenic role of the Mediator (MED) complex in the development of cardiovascular diseases. 38
31255603 2019
13
Blister Packaging Medications for Adherence for American Indians/Alaska Natives in the Outpatient Setting. 38
31248338 2019
14
Public Health Messages Associated with Low UV Index Values Need Reconsideration. 38
31212727 2019
15
The effects of provider-prescribed obesogenic drugs on post-laparoscopic sleeve gastrectomy outcomes: a retrospective cohort study. 38
30242239 2019
16
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. 38
31086585 2019
17
Patient perspectives on medication self-management in rural Kenya: a cross-sectional survey. 38
30256956 2019
18
Outcome prediction using the Mortality in Emergency Department Sepsis score combined with procalcitonin for influenza patients. 38
31174861 2019
19
Combining Heart Rate Variability with Disease Severity Score Variables for Mortality Risk Stratification in Septic Patients Presenting at the Emergency Department. 38
31100830 2019
20
Integrating Public Health and Health Care Strategies to Address the Opioid Epidemic: The Oregon Health Authority's Opioid Initiative. 38
30048336 2019
21
Bedside medication delivery programs: suggestions for systematic evaluation and reporting. 38
31053860 2019
22
Validation of MEDS score in predicting short-term mortality of adults with community-onset bacteremia. 38
31301873 2019
23
MEDS score and vitamin D status are independent predictors of mortality in a cohort of Internal Medicine patients with microbiological identified sepsis. 38
31115033 2019
24
Development of the medication adherence estimation and differentiation scale (MEDS). 38
30106315 2019
25
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. 38
30686518 2019
26
Effect of Novartis Access on availability and price of non-communicable disease medicines in Kenya: a cluster-randomised controlled trial. 38
30799142 2019
27
Minimal erythema dose, minimal persistent pigment dose which model for whitening products evaluation is better? 38
30357919 2019
28
Bioassay-guided isolation of active compounds from Adenosma buchneroides essential oil as mosquito repellent against Aedes albopictus. 38
30471377 2019
29
Surgical outcomes of phacoemulsification/goniosynechialysis with and without endocyclophotocoagulation in patients with chronic angle closure glaucoma. 38
30777954 2019
30
From Failing Meds to the Ones That Worked. 38
30843050 2019
31
A patient-centered deprescribing intervention for hospitalized older patients with polypharmacy: rationale and design of the Shed-MEDS randomized controlled trial. 38
30871561 2019
32
Association of Methadone Treatment With Substance-Related Hospital Admissions Among a Population in Canada With a History of Criminal Convictions. 38
30874778 2019
33
"Doc, I Think My Meds Are Killing Me! Please Help…": Transdisciplinary Forces Unite to Refocus Pharmacotherapy for Older Adults. 38
30536783 2019
34
[Effect of methanol-ethyl acetate partitioned fractions from Descurainia sophia on proliferation and apoptosis of human non-small cell lung cancer H1975 cells]. 38
30890504 2019
35
Discovery of an Orally Bioavailable and Central Nervous System (CNS) Penetrant mGlu7 Negative Allosteric Modulator (NAM) in Vivo Tool Compound: N-(2-(1 H-1,2,4-triazol-1-yl)-5-(trifluoromethoxy)phenyl)-4-(cyclopropylmethoxy)-3-methoxybenzamide (VU6012962). 38
30608678 2019
36
Canadian Validation of German Medical Emergency Datasets. 38
30741198 2019
37
Diabetic skin and UV light: Protection by antioxidants. 38
30316976 2019
38
Does left atrial appendage closure reduce stroke rates as well as oral anticoagulants and antiplatelet meds in A-fib patients? 38
30724905 2019
39
Swiss-Meds: An App Fostering Medication Adherence of Swiss Patient. 38
30923276 2019
40
Letter to the Editor: An Autism Parent's Response to Papatola and Lustig's Paper on Navigating a Managed Care Peer Review in Behavior Analysis in Practice. 38
30538927 2018
41
Messes with Meds. 38
30475316 2018
42
Getting the Most: Enhancing Efficacy by Promoting Erythropoiesis and Thrombopoiesis after Gene Therapy in Mice with Hurler Syndrome. 38
30397627 2018
43
Comparison of Various Severity Assessment Scoring Systems in Patients with Sepsis in a Tertiary Care Teaching Hospital. 38
30662222 2018
44
Dietary Acculturation among Puerto Rican Adults Varies by Acculturation Construct and Dietary Measure. 38
30383277 2018
45
Identification and Management of Middle Ear Disorders in a Rural Cleft Care Program: A Telemedicine Approach. 38
30452749 2018
46
Testing the Medina embolization device in experimental aneurysms. 38
30497222 2018
47
Fractional Sunburn Threshold UVR Doses Generate Equivalent Vitamin D and DNA Damage in Skin Types I-VI but with Epidermal DNA Damage Gradient Correlated to Skin Darkness. 38
29730334 2018
48
Rigor prophylaxis in stage IV melanoma and renal cell carcinoma patients treated with high dose IL-2. 38
30342473 2018
49
Seizures, Meds, and Vtach: A Journey to a Brugada Diagnosis. 38
30335689 2018
50
Shed-MEDS: pilot of a patient-centered deprescribing framework reduces medications in hospitalized older adults being transferred to inpatient postacute care. 38
30181860 2018

Variations for Microcephaly, Epilepsy, and Diabetes Syndrome

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

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IER3IP1 NM_016097.5(IER3IP1): c.62T> G (p.Val21Gly) single nucleotide variant Pathogenic rs387907011 18:44702587-44702587 18:47176216-47176216
2 IER3IP1 NM_016097.5(IER3IP1): c.233T> C (p.Leu78Pro) single nucleotide variant Pathogenic rs387907012 18:44682564-44682564 18:47156193-47156193
3 IER3IP1 NM_016097.5(IER3IP1): c.80del (p.Phe27fs) deletion Pathogenic rs863223399 18:44702569-44702569 18:47176198-47176198
4 IER3IP1 NM_016097.5(IER3IP1): c.170G> A (p.Arg57Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149009126 18:44683830-44683830 18:47157459-47157459
5 IER3IP1 NM_016097.5(IER3IP1): c.239T> G (p.Leu80Ter) single nucleotide variant Uncertain significance 18:44682558-44682558 18:47156187-47156187
6 IER3IP1 NM_016097.5(IER3IP1): c.2T> A (p.Met1Lys) single nucleotide variant Uncertain significance 18:44702647-44702647 18:47176276-47176276
7 IER3IP1 NM_016097.5(IER3IP1): c.217A> G (p.Ile73Val) single nucleotide variant Uncertain significance 18:44682580-44682580 18:47156209-47156209
8 IER3IP1 NC_000018.9: g.(?_44682528)_(44702668_?)dup duplication Uncertain significance 18:44682528-44702668 18:47156157-47176297
9 IER3IP1 NM_016097.5(IER3IP1): c.215C> T (p.Ser72Leu) single nucleotide variant Uncertain significance rs200201845 18:44682582-44682582 18:47156211-47156211
10 IER3IP1 NM_016097.5(IER3IP1): c.223A> G (p.Ile75Val) single nucleotide variant Uncertain significance rs536988795 18:44682574-44682574 18:47156203-47156203
11 IER3IP1 NM_016097.5(IER3IP1): c.138G> A (p.Pro46=) single nucleotide variant Likely benign rs371854032 18:44683862-44683862 18:47157491-47157491
12 IER3IP1 NM_016097.5(IER3IP1): c.12C> A (p.Thr4=) single nucleotide variant Likely benign rs1366709581 18:44702637-44702637 18:47176266-47176266
13 IER3IP1 NM_016097.5(IER3IP1): c.147A> G (p.Lys49=) single nucleotide variant Benign/Likely benign rs61729777 18:44683853-44683853 18:47157482-47157482

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

74
# 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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