MEDS1
MCID: MCR384
MIFTS: 41

Microcephaly, Epilepsy, and Diabetes Syndrome 1 (MEDS1)

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

Aliases & Classifications for Microcephaly, Epilepsy, and Diabetes Syndrome 1

MalaCards integrated aliases for Microcephaly, Epilepsy, and Diabetes Syndrome 1:

Name: Microcephaly, Epilepsy, and Diabetes Syndrome 1 57
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
Meds1 57

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 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death often in early childhood


HPO:

31
microcephaly, epilepsy, and diabetes syndrome 1:
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 1

OMIM® : 57 Microcephaly, epilepsy, and diabetes syndrome-1 (MEDS1) 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 20-May-2021)

MalaCards based summary : Microcephaly, Epilepsy, and Diabetes Syndrome 1, also known as microcephaly, epilepsy, and diabetes syndrome, is related to microcephaly, epilepsy, and diabetes syndrome 2 and toxic shock syndrome, and has symptoms including seizures and myoclonic seizures. An important gene associated with Microcephaly, Epilepsy, and Diabetes Syndrome 1 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 bone, skin and lung, 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 1

Graphical network of the top 20 diseases related to Microcephaly, Epilepsy, and Diabetes Syndrome 1:



Diseases related to Microcephaly, Epilepsy, and Diabetes Syndrome 1

Symptoms & Phenotypes for Microcephaly, Epilepsy, and Diabetes Syndrome 1

Human phenotypes related to Microcephaly, Epilepsy, and Diabetes Syndrome 1:

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 20-May-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 20-May-2021)

UMLS symptoms related to Microcephaly, Epilepsy, and Diabetes Syndrome 1:


seizures; myoclonic seizures

Drugs & Therapeutics for Microcephaly, Epilepsy, and Diabetes Syndrome 1

Drugs for Microcephaly, Epilepsy, and Diabetes Syndrome 1 (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
Penicillin G Approved, Vet_approved Phase 4 61-33-6 5904
5
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
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
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
14
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
15
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
16
Felodipine Approved, Investigational Phase 4 72509-76-3 3333
17
Metformin Approved Phase 4 657-24-9 14219 4091
18
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
19
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
20
Phenylephrine Approved Phase 4 59-42-7 6041
21
Ephedrine Approved Phase 4 299-42-3 9294
22
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
23
Pseudoephedrine Approved Phase 4 90-82-4 7028
24
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
25
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
26
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
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 Bronchodilator Agents Phase 4
31 Sodium-Glucose Transporter 2 Inhibitors Phase 4
32 Olive Phase 4
33 Analgesics Phase 4
34 Analgesics, Non-Narcotic Phase 4
35 Hormone Antagonists Phase 4
36 penicillins Phase 4
37 Penicillin G Procaine Phase 4
38 Penicillin G Benzathine Phase 4
39 Vitamins Phase 4
40 Calciferol Phase 4
41 Duloxetine Hydrochloride Phase 4
42 Anti-Anxiety Agents Phase 4
43 Anticonvulsants Phase 4
44 Hypoglycemic Agents Phase 4
45 insulin Phase 4
46 Insulin, Globin Zinc Phase 4
47 Antipyretics 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 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
3 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
4 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
5 Pulmonary Gas Exchange Response to Indacaterol in Stable Symptomatic Chronic Obstructive Pulmonary Disease Patients Unknown status NCT02547558 Phase 4 Indacaterol
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 High Dosis of Vitamin D as Treatment for COPD. Completed NCT00666367 Phase 4 D-cure;Placebo
8 Factors of Treatment Response in Major Depressive Disorder Completed NCT00200902 Phase 4 Venlafaxine (Effexor), Duloxetine (Cymbalta), Escitalopram (Lexapro)
9 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
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 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
13 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
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 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
18 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
19 Prevention of Preterm Birth in Pregnant Women at Risk Identified by Ultrasound: Evaluation of Two Treatment Strategies Completed NCT01643980 Phase 4 Vaginal micronized progesterone
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 Randomized Controlled Trial: Prevention of Preterm Birth Using Cervical Pessary in Pregnant Women With Short Cervix in Twins Completed NCT01242410 Phase 4
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 UVA1 Phototherapy Versus 5-MOP UVA Photochemotherapy for Patients With Severe Generalized Atopic Dermatitis Completed NCT00533195 Phase 3 5-Methoxypsoralen
30 Comparative Study of 308nm Excimer Lamp and 308nm Excimer Laser in the Treatment of Vitiligo Completed NCT00696358 Phase 3
31 HT201309- Human Photoallergy Test Completed NCT04532164 Phase 3 Butenafine HCl 1% (BAY1896425) - Induction Phase;Butenafine HCl 1% (BAY1896425) - Challenge Phase
32 Mängden kvävgasbubblor i Blodet Efter Dykning Vid Syrgasandning jämfört Med Luftandning Completed NCT02468752 Phase 2, Phase 3 Oxygen
33 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
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 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
36 Combinational Rehabilitative Therapy and Functional Brain Imaging for Patients Recovering From Motor Stroke Completed NCT02073773 Phase 3 Levodopa
37 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
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 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
46 Hypofractionated Radiotherapy for Prostate Cancer (62 Gy in 20 Fractions of 3.1 Gy) With Hyaluronic Acid Injection Unknown status NCT02165020 Phase 2
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 1

Genetic Tests for Microcephaly, Epilepsy, and Diabetes Syndrome 1

Genetic tests related to Microcephaly, Epilepsy, and Diabetes Syndrome 1:

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

Anatomical Context for Microcephaly, Epilepsy, and Diabetes Syndrome 1

MalaCards organs/tissues related to Microcephaly, Epilepsy, and Diabetes Syndrome 1:

40
Bone, Skin, Lung, Bone Marrow, Skeletal Muscle, Small Intestine, Brain

Publications for Microcephaly, Epilepsy, and Diabetes Syndrome 1

Articles related to Microcephaly, Epilepsy, and Diabetes Syndrome 1:

# Title Authors PMID Year
1
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 57 6
24138066 2014
2
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). 6 57
22991235 2012
3
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 57 6
21835305 2011
4
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. 57 6
16972080 2006
5
Reconstruction of novel cyanobacterial siphovirus genomes from Mediterranean metagenomic fosmids. 61
23160125 2013

Variations for Microcephaly, Epilepsy, and Diabetes Syndrome 1

ClinVar genetic disease variations for Microcephaly, Epilepsy, and Diabetes Syndrome 1:

6 (show all 37)
# 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.80del (p.Phe27fs) Deletion Uncertain significance 208459 rs863223399 GRCh37: 18:44702569-44702569
GRCh38: 18:47176198-47176198
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 NM_016097.5(IER3IP1):c.215C>T (p.Ser72Leu) SNV Uncertain significance 539835 rs200201845 GRCh37: 18:44682582-44682582
GRCh38: 18:47156211-47156211
5 IER3IP1 NM_016097.5(IER3IP1):c.217A>G (p.Ile73Val) SNV Uncertain significance 581459 rs923756205 GRCh37: 18:44682580-44682580
GRCh38: 18:47156209-47156209
6 IER3IP1 NM_016097.5(IER3IP1):c.239T>G (p.Leu80Ter) SNV Uncertain significance 655282 rs1599991332 GRCh37: 18:44682558-44682558
GRCh38: 18:47156187-47156187
7 IER3IP1 NM_016097.5(IER3IP1):c.2T>A (p.Met1Lys) SNV Uncertain significance 656356 rs983642731 GRCh37: 18:44702647-44702647
GRCh38: 18:47176276-47176276
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.90C>T (p.Asn30=) SNV Uncertain significance 853084 GRCh37: 18:44702559-44702559
GRCh38: 18:47176188-47176188
10 IER3IP1 NM_016097.5(IER3IP1):c.106G>C (p.Asp36His) SNV Uncertain significance 857870 GRCh37: 18:44683894-44683894
GRCh38: 18:47157523-47157523
11 IER3IP1 NM_016097.5(IER3IP1):c.66del (p.His23fs) Deletion Uncertain significance 862753 GRCh37: 18:44702583-44702583
GRCh38: 18:47176212-47176212
12 IER3IP1 NM_016097.5(IER3IP1):c.62T>G (p.Val21Gly) SNV Uncertain significance 30785 rs387907011 GRCh37: 18:44702587-44702587
GRCh38: 18:47176216-47176216
13 IER3IP1 NM_016097.5(IER3IP1):c.194-3C>T SNV Uncertain significance 935161 GRCh37: 18:44682606-44682606
GRCh38: 18:47156235-47156235
14 IER3IP1 NM_016097.5(IER3IP1):c.163C>T (p.Leu55Phe) SNV Uncertain significance 937203 GRCh37: 18:44683837-44683837
GRCh38: 18:47157466-47157466
15 IER3IP1 NM_016097.5(IER3IP1):c.191G>C (p.Arg64Thr) SNV Uncertain significance 939609 GRCh37: 18:44683809-44683809
GRCh38: 18:47157438-47157438
16 IER3IP1 NM_016097.5(IER3IP1):c.175G>C (p.Val59Leu) SNV Uncertain significance 946494 GRCh37: 18:44683825-44683825
GRCh38: 18:47157454-47157454
17 IER3IP1 NM_016097.5(IER3IP1):c.188T>C (p.Met63Thr) SNV Uncertain significance 948522 GRCh37: 18:44683812-44683812
GRCh38: 18:47157441-47157441
18 IER3IP1 NM_016097.5(IER3IP1):c.170G>T (p.Arg57Leu) SNV Uncertain significance 951671 GRCh37: 18:44683830-44683830
GRCh38: 18:47157459-47157459
19 IER3IP1 NM_016097.5(IER3IP1):c.118G>T (p.Gly40Cys) SNV Uncertain significance 953363 GRCh37: 18:44683882-44683882
GRCh38: 18:47157511-47157511
20 IER3IP1 NM_016097.5(IER3IP1):c.221C>G (p.Ala74Gly) SNV Uncertain significance 956801 GRCh37: 18:44682576-44682576
GRCh38: 18:47156205-47156205
21 IER3IP1 NM_016097.5(IER3IP1):c.32C>T (p.Ala11Val) SNV Uncertain significance 966641 GRCh37: 18:44702617-44702617
GRCh38: 18:47176246-47176246
22 IER3IP1 NM_016097.5(IER3IP1):c.110A>T (p.Gln37Leu) SNV Uncertain significance 972204 GRCh37: 18:44683890-44683890
GRCh38: 18:47157519-47157519
23 IER3IP1 NM_016097.5(IER3IP1):c.42C>G (p.Leu14=) SNV Uncertain significance 1002327 GRCh37: 18:44702607-44702607
GRCh38: 18:47176236-47176236
24 overlap with 19 genes NC_000018.9:g.(?_42281312)_(45423127_?)del Deletion Uncertain significance 1004278 GRCh37: 18:42281312-45423127
GRCh38:
25 IER3IP1 NM_016097.5(IER3IP1):c.4G>T (p.Ala2Ser) SNV Uncertain significance 1011719 GRCh37: 18:44702645-44702645
GRCh38: 18:47176274-47176274
26 IER3IP1 NM_016097.5(IER3IP1):c.2T>C (p.Met1Thr) SNV Uncertain significance 1039072 GRCh37: 18:44702647-44702647
GRCh38: 18:47176276-47176276
27 IER3IP1 NM_016097.5(IER3IP1):c.149C>T (p.Ser50Leu) SNV Uncertain significance 1044884 GRCh37: 18:44683851-44683851
GRCh38: 18:47157480-47157480
28 IER3IP1 NM_016097.5(IER3IP1):c.10A>G (p.Thr4Ala) SNV Uncertain significance 1045977 GRCh37: 18:44702639-44702639
GRCh38: 18:47176268-47176268
29 IER3IP1 NM_016097.5(IER3IP1):c.71A>C (p.Glu24Ala) SNV Uncertain significance 1047582 GRCh37: 18:44702578-44702578
GRCh38: 18:47176207-47176207
30 IER3IP1 NM_016097.5(IER3IP1):c.30G>T (p.Gln10His) SNV Uncertain significance 1051191 GRCh37: 18:44702619-44702619
GRCh38: 18:47176248-47176248
31 IER3IP1 NM_016097.5(IER3IP1):c.118G>A (p.Gly40Ser) SNV Uncertain significance 1064048 GRCh37: 18:44683882-44683882
GRCh38: 18:47157511-47157511
32 IER3IP1 NC_000018.9:g.(?_44682528)_(44702668_?)dup Duplication Uncertain significance 539836 GRCh37: 18:44682528-44702668
GRCh38: 18:47156157-47176297
33 IER3IP1 NM_016097.5(IER3IP1):c.141A>T (p.Gly47=) SNV Likely benign 784814 rs750922610 GRCh37: 18:44683859-44683859
GRCh38: 18:47157488-47157488
34 IER3IP1 NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln) SNV Likely benign 211178 rs149009126 GRCh37: 18:44683830-44683830
GRCh38: 18:47157459-47157459
35 IER3IP1 NM_016097.5(IER3IP1):c.92-10C>T SNV Likely benign 759569 rs772039958 GRCh37: 18:44683918-44683918
GRCh38: 18:47157547-47157547
36 IER3IP1 NM_016097.5(IER3IP1):c.138G>A (p.Pro46=) SNV Likely benign 472568 rs371854032 GRCh37: 18:44683862-44683862
GRCh38: 18:47157491-47157491
37 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 1:

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 1

Search GEO for disease gene expression data for Microcephaly, Epilepsy, and Diabetes Syndrome 1.

Pathways for Microcephaly, Epilepsy, and Diabetes Syndrome 1

GO Terms for Microcephaly, Epilepsy, and Diabetes Syndrome 1

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