MEDS
MCID: MCR209
MIFTS: 46

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 72 29 13 6 70
Meds 57 72
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®:

57 (Updated 05-Apr-2021)
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® : 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) (Updated 05-Apr-2021)

MalaCards based summary : Microcephaly, Epilepsy, and Diabetes Syndrome, also known as meds, is related to toxic shock syndrome and alacrima, achalasia, and mental retardation syndrome, 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 Etoricoxib and Empagliflozin have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are osteopenia and gingival overgrowth

UniProtKB/Swiss-Prot : 72 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

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 optic atrophy 31 occasional (7.5%) HP:0000648
4 cryptorchidism 31 occasional (7.5%) HP:0000028
5 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
6 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
7 scrotal hypoplasia 31 occasional (7.5%) HP:0000046
8 hypogonadism 31 occasional (7.5%) HP:0000135
9 pathologic fracture 31 occasional (7.5%) HP:0002756
10 moderate albuminuria 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 microcephaly 31 HP:0000252
17 anteverted nares 31 HP:0000463
18 neonatal hypotonia 31 HP:0001319
19 full cheeks 31 HP:0000293
20 jaundice 31 HP:0000952
21 tented upper lip vermilion 31 HP:0010804
22 hypoplasia of the corpus callosum 31 HP:0002079
23 feeding difficulties 31 HP:0011968
24 intellectual disability, profound 31 HP:0002187
25 muscular hypotonia of the trunk 31 HP:0008936
26 brisk reflexes 31 HP:0001348
27 hypsarrhythmia 31 HP:0002521
28 narrow forehead 31 HP:0000341
29 delayed myelination 31 HP:0012448
30 simplified gyral pattern 31 HP:0009879
31 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
brisk reflexes
hypsarrhythmia
delayed myelination
simplified gyral pattern
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 (Updated 05-Apr-2021)

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 356)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
2
Empagliflozin Approved Phase 4 864070-44-0
3
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
4
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
5
Penicillin G Approved, Vet_approved Phase 4 61-33-6 5904
6
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
7
Acetaminophen Approved Phase 4 103-90-2 1983
8
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
10
Ondansetron Approved Phase 4 99614-02-5 4595
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
13
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
14
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
15
Metformin Approved Phase 4 657-24-9 4091 14219
16
Felodipine Approved, Investigational Phase 4 72509-76-3 3333
17
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
18
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
19
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
20
Ephedrine Approved Phase 4 299-42-3 9294
21
Phenylephrine Approved Phase 4 59-42-7 6041
22
Pseudoephedrine Approved Phase 4 90-82-4 7028
23
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
24
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
25
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
26
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
27
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
28
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
29 Cyclooxygenase 2 Inhibitors Phase 4
30 Sodium-Glucose Transporter 2 Inhibitors Phase 4
31 Olive Phase 4
32 Analgesics, Non-Narcotic Phase 4
33 Hormone Antagonists Phase 4
34 Analgesics Phase 4
35 Hormones Phase 4
36 Penicillin G Procaine Phase 4
37 Penicillin G Benzathine Phase 4
38 penicillins Phase 4
39 Duloxetine Hydrochloride Phase 4
40 Anticonvulsants Phase 4
41 Anti-Anxiety Agents Phase 4
42 Vitamins Phase 4
43 Calciferol Phase 4
44 Antipyretics Phase 4
45 Hypoglycemic Agents Phase 4
46 Insulin, Globin Zinc Phase 4
47 insulin Phase 4
48 Excitatory Amino Acid Antagonists Phase 4
49 Trace Elements Phase 4
50 Micronutrients Phase 4

Interventional clinical trials:

(show top 50) (show all 243)
# Name Status NCT ID Phase Drugs
1 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
2 National Screening i Danmark Med MR-scanning af Brystet Kontra Klinisk Mammografi Hos Kvinder Der er bærere af Risikogivende BRCA1 Eller BRCA2 Mutationer Unknown status NCT00413491 Phase 4
3 Intraartikulær Versus ekstraartikulær Bolus Injektion Med Ropivacain Ved Total knæalloplastik: et Prospektivt, Randomiseret, Dobbeltblindet, Kontrolleret Studie Unknown status NCT00632580 Phase 4 intraarticular injection with ropivacaine;extraarticular injection with ropivacaine
4 Pulmonary Gas Exchange Response to Indacaterol in Stable Symptomatic Chronic Obstructive Pulmonary Disease Patients Unknown status NCT02547558 Phase 4 Indacaterol
5 The Effect of a Circuit Resistance Training, Empagliflozin or "Vegeterranean Diet" on Physical and Metabolic Function in Elderly Subjects With Type 2 Diabetes: a Study Protocol for a Randomized Control Trial (CEV-65 Trial) Unknown status NCT03560375 Phase 4 Empagliflozin 10 MG
6 Tobramycin én Gang Daglig Mot Tre Ganger Daglig, Gitt Med Benzylpenicillin, Til Pasienter Med nøytropen Feber Completed NCT00257790 Phase 4 Tobramycin once a day
7 Factors of Treatment Response in Major Depressive Disorder Completed NCT00200902 Phase 4 Venlafaxine (Effexor), Duloxetine (Cymbalta), Escitalopram (Lexapro)
8 A 13-Week, Randomized, Multi-Center, Double-Blind, Placebo-Controlled, Parallel-Group Study To Evaluate The Efficacy, Safety And Tolerability Of Pregabalin (150-600 Mg/Day) Using A Flexible Dosing Schedule In The Treatment Of Subjects With Central Post-Stroke Pain (CPSP) Completed NCT00313820 Phase 4 Pregabalin;Placebo
9 High Dosis of Vitamin D as Treatment for COPD. Completed NCT00666367 Phase 4 D-cure;Placebo
10 ACL Repair and Multimodal Analgesia Completed NCT01868425 Phase 4 multimodal:acetaminophen, gabapentin, ketamine, bupivacaine;placebo pills and injectables
11 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
12 Inkretineffekten Hos Patienter Med Polycystisk Ovariesyndrom før og Efter Behandling af Insulinresistens (Incretin Effect in Patients With Polycystic Ovary Syndrome Before and After Treatment of Insulin Resistance) Completed NCT01892254 Phase 4 Metformin;Placebo
13 Comparison of Routine IM Influenza Immunization and Administration by Jet-injector (Med-Jet MIT H4™ & Disposable Cartridge) in Healthy Young Adults Completed NCT03150537 Phase 4
14 Prospektivt Randomiseret Dobbeltblindt Placebo-kontrolleret Studie af, Calciumkanalblokade påbegyndt Inden Operation: Med Henblik på at Forebygge Ciclosporin Induceret Nefropati Efter Lungetransplantation Completed NCT02744872 Phase 4 Felodipine;Placebo
15 Lokal Infiltrations Analgesi Med Ropivakain 0,5 % Versus Placebo Ved Rygkirurgi for Spinalstenose: et Prospektivt Randomiseret, Dobbeltblindet, Placebo-kontrolleret Studie Completed NCT00771459 Phase 4 Ropivacaine 0.5 %;Isotonic NaCl
16 Lokal Infiltrations Analgesi Med Ropivakain 0,5 % Versus Placebo VED Vaginal Hysterektomi: ET Prospektivt Randomiseret, Dobbeltblind ET, Placebo-kontrolleret Studie Completed NCT00768456 Phase 4 Ropivacaine 0.5 %;Isotonic NaCl
17 Lokal Infiltrations Analgesi Med Ropivakain 0,5 % Versus Ropivakain 0,2 % Versus Placebo Efter Sectio Caesarea: et Prospektivt, Dobbeltblindet, Placebokontrolleret Studie. Completed NCT00891540 Phase 4 Ropivacaine;Ropivacaine;placebo
18 Lokal Infiltrations Analgesi Med Ropivakain 1 % Versus Placebo VED Vaginale Descensusoperationer: ET Prospektivt Randomiseret, Dobbeltblindet, Placebo- Kontrolleret Studie Completed NCT00769054 Phase 4 Ropivacaine;Isotonic NaCl
19 Randomized Controlled Trial: Prevention of Preterm Birth Using Cervical Pessary in Pregnant Women With Short Cervix in Twins Completed NCT01242410 Phase 4
20 A Randomized Double Blind Placebo Controlled Trial With Vitamin D to Prevent Bronchiolitis Obliterans Syndrome After Lung Transplantation Completed NCT01212406 Phase 4 Vitamin D
21 Prevention of Preterm Birth in Pregnant Women at Risk Identified by Ultrasound: Evaluation of Two Treatment Strategies Completed NCT01643980 Phase 4 Vaginal micronized progesterone
22 Phase 4 Open Label Study to Determine Pharmacokinetics of Phenylephrine and Pharmacodynamic Effects on BP Via IV Admin of Phenylephrine Hydrochloride Inj in Ped Subjects (≥12 to 16 Years of Age) Undergoing Gen and Neuraxial Anesthesia Recruiting NCT02323399 Phase 4 Phenylephrine
23 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
24 Percutaneous Transforaminal Endoscopic Discectomy (PTED) Versus Microendoscopic Discectomy (MED) for the Treatment of Lumbar Disc Herniation: A Prospective Randomized Controlled Study Active, not recruiting NCT01997086 Phase 4
25 Methylphenidats Betydning for motoriskindlæring Hos Patienter Med Apopleksi Terminated NCT00396058 Phase 4 Methylphenidate
26 Sacubitril-valsartan (Entresto) Versus Standard Anti-hypertensive Therapy in LVAD Patients - A Feasibility Pilot Study Withdrawn NCT03279861 Phase 4 Entresto;Valsartan
27 A Multicenter, Open-Label, Parallel-Group, Randomized, Flexible Dose Study To Evaluate the Safety and Tolerability of Switching From Existing Atypical Antipsychotics to Bifeprunox in Subjects With Schizophrenia or Schizoaffective Disorder Completed NCT00347425 Phase 3 Aripiprazole;Olanzapine;Risperidone;Quetiapine;Ziprasidone;Aripiprazole;Olanzapine;Risperidone;Quetiapine;Ziprasidone
28 African American Study of Kidney Disease and Hypertension ABPM Pilot Study Completed NCT00582777 Phase 2, Phase 3 ADD On Dosing
29 Comparative Study of 308nm Excimer Lamp and 308nm Excimer Laser in the Treatment of Vitiligo Completed NCT00696358 Phase 3
30 HT201309- Human Photoallergy Test Completed NCT04532164 Phase 3 Butenafine HCl 1% (BAY1896425) - Induction Phase;Butenafine HCl 1% (BAY1896425) - Challenge Phase
31 UVA1 Phototherapy Versus 5-MOP UVA Photochemotherapy for Patients With Severe Generalized Atopic Dermatitis Completed NCT00533195 Phase 3 5-Methoxypsoralen
32 Mängden kvävgasbubblor i Blodet Efter Dykning Vid Syrgasandning jämfört Med Luftandning Completed NCT02468752 Phase 2, Phase 3 Oxygen
33 A Randomized Controlled Multicentre Trial of High Dose Dexamethasone Versus Conventional Dose Prednisolone for Adults With Untreated Idiopathic Thrombocytopenic Purpura Completed NCT00451594 Phase 3 Dexamethasone;Prednisolone
34 A Randomised Phase-III Study Comparing Cytoreductive Surgery Plus Intraperitoneal Chemotherapy Versus Modern Systemic Chemotherapy in Colorectal Peritoneal Carcinomatosis. Completed NCT01524094 Phase 3 Systemic chemotherapy alone (oxaliplatin, 5-fluorouracil, isovorin)
35 Characterisation of 24-hour FEV1-time Profiles of Inhaled BI 1744 CL and Inhaled Foradil Iin Patients With Chronic Obstructive Pulmonary Disease Completed NCT00931385 Phase 3 BI 1744;bi1744;Placebo;Foradil
36 A Randomized Observer-blinded Controlled Non-inferiority Trial to Evaluate the Immunogenicity of Locally Manufactured Meningococcal ACWY Vaccine 'Ingovax ACWY' in Bangladeshi Healthy Adults. Completed NCT03263403 Phase 2, Phase 3
37 Combinational Rehabilitative Therapy and Functional Brain Imaging for Patients Recovering From Motor Stroke Completed NCT02073773 Phase 3 Levodopa
38 Comparison Of Therapeutics for Hospitalized Patients Infected With SARS-CoV-2 In a Pragmatic aDaptive randoMizED Clinical Trial During the COVID-19 Pandemic (COVID MED Trial) Recruiting NCT04328012 Phase 2, Phase 3 Losartan;Placebo
39 Brain Safe: Consumer Intervention to Reduce Exposure to Drugs Linked to Alzheimer's Disease Recruiting NCT04121858 Phase 2, Phase 3
40 A Multi-centre, Randomized, Double-blind, Placebo-controlled Phase III Study to Evaluate the Efficacy and Safety of Anti-IgE Monoclonal Antibody to Treat Allergic Asthma Patients Not Adequately Controlled Despite Med/High ICS/LABA. Enrolling by invitation NCT03468790 Phase 3 CMAB007;Symbicort;Seretide;Ventolin;placebo
41 The Effect of Intravenous Non-steroidal Anti-inflammatory Drugs and Intravenous Corticosteroids on the Likelihood of Dysphagia and Dysphonia Following Anterior Cervical Discectomy and Fusion Not yet recruiting NCT04650893 Phase 3 Intravenous Ketorolac;Intravenous Dexamethasone;Placebo
42 Flow-flow ECCO2-R and 4 ml/kg Tidal Volume vs. 6 ml/kg Tidal Volume to Enhance Protection From Ventilator Induced Lung Injury in Acute Lung Injury (ELP) Terminated NCT01522599 Phase 3
43 Certican® (Everolimus) Against Cytomegalovirus Disease in Renal Transplant Patients Unknown status NCT00828503 Phase 2 Certican (everolimus) + valganciclovir;Valganciclovir
44 Intravesikal Instillation af Botulinum Toxin Type A Til Patienter Med Urge Urininkontinens Unknown status NCT00770406 Phase 1, Phase 2 botulinum toxin type A
45 Hypofractionated Radiotherapy for Prostate Cancer (62 Gy in 20 Fractions of 3.1 Gy) With Hyaluronic Acid Injection Unknown status NCT02165020 Phase 2
46 Investigation of Antipsoriatic Effects of UVB-induced Synthesis of 1alpha, 25-Dihydroxyvitamin D3 (1alpha, 25(OH)2D3, Calcitriol)in Keratinocytes of Psoriatic Skin, Using Cytochrom-P(CYP)Inhibitor Ketokonazol Unknown status NCT00678756 Phase 2 Ketokonazol 2% cream
47 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
48 Safety and Tolerability of Modafinil for Methamphetamine Dependence Completed NCT00569374 Phase 2 Modafinil
49 Behandling av Keratoconus Med "Cornea Collagen Cross-linking" Uten Hornhinneepitelfjerning Completed NCT01181219 Phase 2
50 Evaluation of Setup Accuracy in Med Tec S-Frame Immobilization Masks For Patients Undergoing Radiation Therapy For Head and Neck Cancer Completed NCT00252473 Phase 2

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
Skin, Brain, Bone, Lung, Bone Marrow, Skeletal Muscle, Small Intestine

Publications for Microcephaly, Epilepsy, and Diabetes Syndrome

Articles related to Microcephaly, Epilepsy, and Diabetes Syndrome:

(show top 50) (show all 779)
# Title Authors PMID Year
1
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). 6 57 61
22991235 2012
2
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 6 57
24138066 2014
3
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 6 57
21835305 2011
4
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. 6 57
16972080 2006
5
Mixed electron donors synergistically enhance CO2 fixation of non-photosynthetic microorganism communities through optimizing community structure to promote cbb gene transcription. 61
33387320 2021
6
DAMAD: Database, Attack, and Model Agnostic Adversarial Perturbation Detector. 61
33710959 2021
7
The effect of delays in second-dose antibiotics on patients with severe sepsis and septic shock. 61
33784532 2021
8
Pharmacology and Mechanism of Action of HSK16149, a Selective Ligand of α2δ Subunit of Voltage-Gated Calcium Channel with Analgesic Activity in Animal Models of Chronic Pain. 61
33293377 2021
9
The contributions of everyday and major experiences of racial discrimination to current alcohol use and regular smoking in Black adults: Considering variation by demographic characteristics and family history. 61
33153774 2021
10
Can Educational Videos Reduce Opioid Consumption in Trauma Inpatients? A Cluster-Randomized Pilot Study. 61
33797489 2021
11
NLX-101, a highly selective 5-HT1A receptor biased agonist, mediates antidepressant-like activity in rats via prefrontal cortex 5-HT1A receptors. 61
33358917 2021
12
Functional Monitoring after Trabeculectomy or XEN Microstent Implantation Using Spectral Domain Optical Coherence Tomography and Visual Field Indices-A Retrospective Comparative Cohort Study. 61
33801601 2021
13
Five-year results of non-penetrating deep sclerectomy with demineralized cancellous bone xenogenically derived collagen glaucoma implant. 61
33655389 2021
14
Factors Linked to Chronic Kidney Disease Among Stroke Survivors in Ghana. 61
33706193 2021
15
"Meds-in-Hand" Intervention to Reduce Critical Process Delays in Pediatric Human Immunodeficiency Virus Post-Exposure Prophylaxis. 61
32347312 2021
16
Community Medication Education, Data, & Safety (C-MEDS): Findings from a Pilot Project. 61
33355939 2021
17
Treatment outcomes of overactive bladder with combined therapies of botulinum toxin injections and oral agents. 61
33620537 2021
18
Which Chronic Low Back Pain Patients Respond Favorably to Yoga, Physical Therapy, and a Self-care Book? Responder Analyses from a Randomized Controlled Trial. 61
32662833 2021
19
Blister Packaging Medications for Adherence for American Indians/Alaska Natives in the Outpatient Setting. 61
31248338 2021
20
What can we expect of police in the face of deficient mental health systems? Qualitative insights from Chicago police officers. 61
32966680 2021
21
Minimizing Opioids After Joint Operation: Protocol to Decrease Postoperative Opioid Use After Primary Total Knee Arthroplasty. 61
33716488 2021
22
Assessment of narcotic use in management of post-op pain after functional endoscopic sinus surgery. 61
33614928 2021
23
Gait Analysis of Old Individuals with Mild Parkinsonian Signs and Those Individuals' Gait Performance Benefits Little from Levodopa. 61
33758563 2021
24
The role of plasma presepsin levels in determining the incidence of septic shock and mortality in patients with sepsis. 61
33571154 2021
25
Personalized treatments for depressive symptoms in patients with advanced heart failure: A pragmatic randomized controlled trial. 61
33412562 2021
26
Identification of dietary patterns in a general population of North Italian adults and their association with arterial stiffness. The RoCAV study. 61
32981800 2021
27
Pharmacist-Run Medication Reconciliation for Veterans Admitted to Non-Veterans Affairs Hospice Care. 61
33384033 2021
28
A Quality Improvement Initiative To Improve Postdischarge Antimicrobial Adherence. 61
33273010 2021
29
A placebo prognostic index (PI) as a moderator of outcomes in the treatment of adolescent depression: Could it inform risk-stratification in treatment with cognitive-behavioral therapy, fluoxetine, or their combination? 61
32223373 2021
30
When Will the News be Bad Enough? 61
33371922 2021
31
Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects. 61
33748132 2021
32
The Effect of Osteoporosis Medication on Risk Attenuation of Non-Trauma Fracture Among Adults with Cerebral Palsy: A Propensity Score-Matched Observational Study. 61
33603490 2021
33
Celecoxib significantly reduces opioid use after shoulder arthroplasty. 61
32919045 2021
34
Antipsychotic Dose in Acute Schizophrenia: A Meta-analysis. 61
32415847 2020
35
Effect of Motor State on Postactivation Depression of the Soleus H-Reflex in Parkinson's Disease During Deep Brain Stimulation and Dopaminergic Medication Treatment: A Pilot Study. 61
33394822 2020
36
Medical Emergency Datasets Can Improve the Comprehensiveness of Handover Information: A Simulation Study. 61
33373550 2020
37
Opioid-Free Anesthesia in the Perioperative Setting-A Preliminary Retrospective Matched Cohort Study. 61
33369677 2020
38
Ethnobotanical survey and evaluation of traditional mosquito repellent plants of Dai people in Xishuangbanna, Yunnan Province, China. 61
32730874 2020
39
The New Smart-Meds: Redesign of a Gamified App to Improve Medication Adherence Using a Mixed Methods Design. 61
33227765 2020
40
The Effect of Body Mass Index and Weight-Adjusted Fluid Dosing on Mortality in Sepsis. 61
33213268 2020
41
Clinical efficacy of mouth exercising devices in oral submucous fibrosis: A systematic review. 61
32714782 2020
42
Strengthening retina eye care services in Nepal: retina eye care of Nepal project. 61
33109192 2020
43
The sunless tanning agent dihydroxyacetone induces stress response gene expression and signaling in cultured human keratinocytes and reconstructed epidermis. 61
32506039 2020
44
Developing a validity argument for a simulation-based model of entrustment in dispensing skills assessment framework. 61
32624137 2020
45
It's time to change when BP meds are taken. 61
32936840 2020
46
Outpatient Opioid Use After Cesarean Delivery. 61
32752572 2020
47
Lactate-enhanced-qSOFA (LqSOFA) score is superior to the other four rapid scoring tools in predicting in-hospital mortality rate of the sepsis patients. 61
32953813 2020
48
Comparison the accuracy of early warning scores with qSOFA and SIRS for predicting sepsis in the emergency department. 61
33046318 2020
49
Double trouble: Do symptom severity and duration interact to predicting treatment outcomes in adolescent depression? 61
32413595 2020
50
Pilot feasibility study examining the effects of a comprehensive volume reduction protocol on hydration status and blood pressure in hemodialysis patients. 61
32400085 2020

Variations for Microcephaly, Epilepsy, and Diabetes Syndrome

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

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IER3IP1 NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro) SNV Pathogenic 30786 rs387907012 GRCh37: 18:44682564-44682564
GRCh38: 18:47156193-47156193
2 IER3IP1 NM_016097.5(IER3IP1):c.62T>G (p.Val21Gly) SNV Uncertain significance 30785 rs387907011 GRCh37: 18:44702587-44702587
GRCh38: 18:47176216-47176216
3 IER3IP1 NM_016097.5(IER3IP1):c.223A>G (p.Ile75Val) SNV Uncertain significance 472569 rs536988795 GRCh37: 18:44682574-44682574
GRCh38: 18:47156203-47156203
4 IER3IP1 NC_000018.9:g.(?_44682528)_(44702668_?)dup Duplication Uncertain significance 539836 GRCh37: 18:44682528-44702668
GRCh38: 18:47156157-47176297
5 IER3IP1 NM_016097.5(IER3IP1):c.2T>A (p.Met1Lys) SNV Uncertain significance 656356 rs983642731 GRCh37: 18:44702647-44702647
GRCh38: 18:47176276-47176276
6 IER3IP1 NM_016097.5(IER3IP1):c.215C>T (p.Ser72Leu) SNV Uncertain significance 539835 rs200201845 GRCh37: 18:44682582-44682582
GRCh38: 18:47156211-47156211
7 IER3IP1 NM_016097.5(IER3IP1):c.217A>G (p.Ile73Val) SNV Uncertain significance 581459 rs923756205 GRCh37: 18:44682580-44682580
GRCh38: 18:47156209-47156209
8 IER3IP1 NM_016097.5(IER3IP1):c.175G>A (p.Val59Ile) SNV Uncertain significance 834938 GRCh37: 18:44683825-44683825
GRCh38: 18:47157454-47157454
9 IER3IP1 NM_016097.5(IER3IP1):c.66del (p.His23fs) Deletion Uncertain significance 862753 GRCh37: 18:44702583-44702583
GRCh38: 18:47176212-47176212
10 IER3IP1 NM_016097.5(IER3IP1):c.194-3C>T SNV Uncertain significance 935161 GRCh37: 18:44682606-44682606
GRCh38: 18:47156235-47156235
11 IER3IP1 NM_016097.5(IER3IP1):c.188T>C (p.Met63Thr) SNV Uncertain significance 948522 GRCh37: 18:44683812-44683812
GRCh38: 18:47157441-47157441
12 IER3IP1 NM_016097.5(IER3IP1):c.170G>T (p.Arg57Leu) SNV Uncertain significance 951671 GRCh37: 18:44683830-44683830
GRCh38: 18:47157459-47157459
13 IER3IP1 NM_016097.5(IER3IP1):c.221C>G (p.Ala74Gly) SNV Uncertain significance 956801 GRCh37: 18:44682576-44682576
GRCh38: 18:47156205-47156205
14 IER3IP1 NM_016097.5(IER3IP1):c.110A>T (p.Gln37Leu) SNV Uncertain significance 972204 GRCh37: 18:44683890-44683890
GRCh38: 18:47157519-47157519
15 IER3IP1 NM_016097.5(IER3IP1):c.42C>G (p.Leu14=) SNV Uncertain significance 1002327 GRCh37: 18:44702607-44702607
GRCh38: 18:47176236-47176236
16 overlap with 19 genes NC_000018.9:g.(?_42281312)_(45423127_?)del Deletion Uncertain significance 1004278 GRCh37: 18:42281312-45423127
GRCh38:
17 IER3IP1 NM_016097.5(IER3IP1):c.4G>T (p.Ala2Ser) SNV Uncertain significance 1011719 GRCh37: 18:44702645-44702645
GRCh38: 18:47176274-47176274
18 IER3IP1 NM_016097.5(IER3IP1):c.106G>C (p.Asp36His) SNV Uncertain significance 857870 GRCh37: 18:44683894-44683894
GRCh38: 18:47157523-47157523
19 IER3IP1 NM_016097.5(IER3IP1):c.191G>C (p.Arg64Thr) SNV Uncertain significance 939609 GRCh37: 18:44683809-44683809
GRCh38: 18:47157438-47157438
20 IER3IP1 NM_016097.5(IER3IP1):c.175G>C (p.Val59Leu) SNV Uncertain significance 946494 GRCh37: 18:44683825-44683825
GRCh38: 18:47157454-47157454
21 IER3IP1 NC_000018.9:g.(?_44682528)_(44702668_?)dup Duplication Uncertain significance 1015842 GRCh37: 18:44682528-44702668
GRCh38:
22 IER3IP1 NM_016097.5(IER3IP1):c.80del (p.Phe27fs) Deletion Uncertain significance 208459 rs863223399 GRCh37: 18:44702569-44702569
GRCh38: 18:47176198-47176198
23 IER3IP1 NM_016097.5(IER3IP1):c.239T>G (p.Leu80Ter) SNV Uncertain significance 655282 rs1599991332 GRCh37: 18:44682558-44682558
GRCh38: 18:47156187-47156187
24 IER3IP1 NM_016097.5(IER3IP1):c.90C>T (p.Asn30=) SNV Uncertain significance 853084 GRCh37: 18:44702559-44702559
GRCh38: 18:47176188-47176188
25 IER3IP1 NM_016097.5(IER3IP1):c.163C>T (p.Leu55Phe) SNV Uncertain significance 937203 GRCh37: 18:44683837-44683837
GRCh38: 18:47157466-47157466
26 IER3IP1 NM_016097.5(IER3IP1):c.118G>T (p.Gly40Cys) SNV Uncertain significance 953363 GRCh37: 18:44683882-44683882
GRCh38: 18:47157511-47157511
27 IER3IP1 NM_016097.5(IER3IP1):c.32C>T (p.Ala11Val) SNV Uncertain significance 966641 GRCh37: 18:44702617-44702617
GRCh38: 18:47176246-47176246
28 IER3IP1 NM_016097.5(IER3IP1):c.2T>C (p.Met1Thr) SNV Uncertain significance 1039072 GRCh37: 18:44702647-44702647
GRCh38: 18:47176276-47176276
29 IER3IP1 NM_016097.5(IER3IP1):c.149C>T (p.Ser50Leu) SNV Uncertain significance 1044884 GRCh37: 18:44683851-44683851
GRCh38: 18:47157480-47157480
30 IER3IP1 NM_016097.5(IER3IP1):c.10A>G (p.Thr4Ala) SNV Uncertain significance 1045977 GRCh37: 18:44702639-44702639
GRCh38: 18:47176268-47176268
31 IER3IP1 NM_016097.5(IER3IP1):c.71A>C (p.Glu24Ala) SNV Uncertain significance 1047582 GRCh37: 18:44702578-44702578
GRCh38: 18:47176207-47176207
32 IER3IP1 NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln) SNV Likely benign 211178 rs149009126 GRCh37: 18:44683830-44683830
GRCh38: 18:47157459-47157459
33 IER3IP1 NM_016097.5(IER3IP1):c.138G>A (p.Pro46=) SNV Likely benign 472568 rs371854032 GRCh37: 18:44683862-44683862
GRCh38: 18:47157491-47157491
34 IER3IP1 NM_016097.5(IER3IP1):c.92-10C>T SNV Likely benign 759569 rs772039958 GRCh37: 18:44683918-44683918
GRCh38: 18:47157547-47157547
35 IER3IP1 NM_016097.5(IER3IP1):c.141A>T (p.Gly47=) SNV Likely benign 784814 rs750922610 GRCh37: 18:44683859-44683859
GRCh38: 18:47157488-47157488
36 IER3IP1 NM_016097.5(IER3IP1):c.147A>G (p.Lys49=) SNV Benign 435491 rs61729777 GRCh37: 18:44683853-44683853
GRCh38: 18:47157482-47157482

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

72
# 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

GO Terms for Microcephaly, Epilepsy, and Diabetes Syndrome

Sources for Microcephaly, Epilepsy, and Diabetes Syndrome

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