MEDS
MCID: MCR209
MIFTS: 39

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 75 29 13 6 73
Meds 57 75
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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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). Affiliated tissues include bone, liver and heart, and related phenotypes are high palate and ptosis

UniProtKB/Swiss-Prot : 75 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 208)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 12.2
2 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.4
3 primary mediastinal large b-cell lymphoma 11.1
4 multiple sclerosis 10.0
5 depression 10.0
6 medulloblastoma 10.0
7 relapsing-remitting multiple sclerosis 10.0
8 bowenoid papulosis 10.0
9 prostate cancer 9.9
10 rheumatoid arthritis 9.9
11 retinitis pigmentosa 9.9
12 hepatitis 9.9
13 pemphigus foliaceus 9.9
14 sleep apnea 9.9
15 heart disease 9.9
16 leukoplakia 9.9
17 oral leukoplakia 9.9
18 mesothelioma, malignant 9.8
19 osteoporosis 9.8
20 down syndrome 9.8
21 myocardial infarction 9.8
22 leukemia 9.8
23 nephrolithiasis 9.8
24 spinal cord injury 9.8
25 obstructive nephropathy 9.8
26 microcephaly 9.8
27 acromegaly 9.8
28 polymyositis 9.8
29 alcohol dependence 9.8
30 carpal tunnel syndrome 9.8
31 lung cancer 9.8
32 isolated growth hormone deficiency, type ia 9.8
33 asthma 9.8
34 microcephaly with simplified gyral pattern 9.8
35 aceruloplasminemia 9.8
36 anxiety 9.8
37 bone mineral density quantitative trait locus 8 9.8
38 mononeuropathy of the median nerve, mild 9.8
39 bone mineral density quantitative trait locus 15 9.8
40 polyarteritis nodosa, childhood-onset 9.8
41 encephalopathy, progressive, with or without lipodystrophy 9.8
42 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.8
43 arthritis 9.8
44 craniosynostosis 9.8
45 dengue hemorrhagic fever 9.8
46 ischemic heart disease 9.8
47 oral squamous cell carcinoma 9.8
48 cardiac arrest 9.8
49 osteomyelitis 9.8
50 japanese encephalitis 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
brisk reflexes
hypsarrhythmia
delayed myelination
developmental delay, severe
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

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

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

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


seizures, myoclonic seizures

Drugs & Therapeutics for Microcephaly, Epilepsy, and Diabetes Syndrome

Search Clinical Trials , 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
Bone, Liver, Heart, Lung, Spinal Cord, Prostate, B Cells

Publications for Microcephaly, Epilepsy, and Diabetes Syndrome

Articles related to Microcephaly, Epilepsy, and Diabetes Syndrome:

(show top 50) (show all 234)
# Title Authors Year
1
Pro-BNP versus MEDS Score in Determining the Prognosis of Sepsis Patients; a Diagnostic Accuracy Study. ( 29503829 )
2018
2
Diabetes in the elderly: Matching meds to needs. ( 29989611 )
2018
3
Development of the medication adherence estimation and differentiation scale (MEDS). ( 30106315 )
2018
4
Shed-MEDS: pilot of a patient-centered deprescribing framework reduces medications in hospitalized older adults being transferred to inpatient postacute care. ( 30181860 )
2018
5
Seizures, Meds, and Vtach: A Journey to a Brugada Diagnosis. ( 30335689 )
2018
6
Messes with Meds. ( 30475316 )
2018
7
"Doc, I Think My Meds Are Killing Me! Please Help…": Transdisciplinary Forces Unite to Refocus Pharmacotherapy for Older Adults. ( 30536783 )
2018
8
Next-generation nanotech meds: Diagnostic and therapeutic applications of non-organic nanoparticles are making their way into clinical use. ( 27979974 )
2017
9
Acute Care Diagnostic Collaboration: Bayesian modeling comparative diagnostic assessment of lactate, procalcitonin and CRP in risk stratified population by Mortality in ED (MEDS) score. ( 28040383 )
2017
10
Protocol for a randomised controlled trial evaluating the effects of providing essential medicines at no charge: the Carefully seLected and Easily Accessible at No Charge Medicines (CLEAN Meds) trial. ( 28611089 )
2017
11
Meds Modify Microbiome, Mediating Their Effects. ( 28877452 )
2017
12
Mind Your Meds Mind your Meds. Forgot to take your meds again? Stay on schedule with these tried-and-true tips. ( 29446886 )
2017
13
Temperature monitoring keeps meds safe. ( 29490449 )
2017
14
PURLs: Kidney stones? It's time to rethink those meds. ( 26977462 )
2016
15
Save Money on Your Meds: Prices can vary widely from store to store, even in the same town. The trick is to shop around. ( 26738208 )
2016
16
Increasing Medication Possession at Discharge for Patients With Asthma: The Meds-in-Hand Project. ( 26912205 )
2016
17
Heartburn Meds Alter the Gut. ( 27100242 )
2016
18
Help Me Remember My Meds. ( 27250074 )
2016
19
Coronary Artery Bypass Graft Versus Percutaneous Coronary Intervention: Meds Matter: Impact of Adherence to Medical Therapy on Comparative Outcomes. ( 27777293 )
2016
20
Saving Money On Meds Cut your Rx costs with these tips. ( 29693915 )
2016
21
New standards for midwives to prescribe scheduled meds. ( 26226791 )
2015
22
Preventing Bounce-Backs: More Filled Meds, Less Hurting Heads. ( 26330253 )
2015
23
Treating depression: what works besides meds? ( 26485266 )
2015
24
Partnering to enhance mental health care capacity in communities: A qualitative study of the More Than Meds program. ( 26600823 )
2015
25
Over-the-Counter Monkey Meds. ( 26638387 )
2015
26
Improving medication adherence through technology: analyzing the managing meds video challenge. ( 23750992 )
2014
27
Simpler, faster, more accurate melanocytic lesion segmentation through MEDS. ( 24081839 )
2014
28
Hospital brings discharge meds to the bedside. ( 24505834 )
2014
29
Pharmacology: prolonged meds use. ( 24809548 )
2014
30
Jails. No negligence for failure to send woman with anti-HIV meds. ( 25087250 )
2014
31
Hold it! Are you taking your reflux meds correctly? PPIs for heartburn and GERD are effective--but only when used according to directions. ( 25306565 )
2014
32
ENs to administer IV meds. ( 25612360 )
2014
33
Specialty meds will put pressure on overall costs. ( 25942786 )
2014
34
Evaluation of the modified MEDS, MEWS score and Charlson comorbidity index in patients with community acquired sepsis in the emergency department. ( 23250543 )
2013
35
Current status of the Matson Evaluation of Drug Side Effects (MEDS). ( 23528442 )
2013
36
Faith community nurses & brown bag events help older adults manage meds. ( 23607155 )
2013
37
Updated guidelines highlight lack of meds for heart failure. ( 24404743 )
2013
38
Prisons. Record showed that pretrial detainee received HIV meds. ( 24416804 )
2013
39
Reason for visit: Check Meds. ( 24428013 )
2013
40
Caution: these are the most addictive pain meds. 97% of users don't have a problem with opioids. Here's how to avoid becoming part of the other 3%. ( 27024829 )
2013
41
Ethical issues: Putting the meds in the applesauce. ( 22373693 )
2012
42
Do new pain clinic laws affect my prescribing of pain meds? ( 22375434 )
2012
43
PURLs: BP meds: this simple change improves outcomes. ( 22393554 )
2012
44
NY: RN made error in administration of meds.: court ruled punitive damages could be awarded. Marsh v. Arnot Ogden Medical Center, 2012-00154, NYAPP3 (1/12/2012)-NY. ( 22448538 )
2012
45
Meds in the pea soup. ( 22627325 )
2012
46
Ablation trumps meds for atrial fibrillation treatment. Catheter ablation provides better long-term relief from atrial fibrillation than medication, but surgical ablation is best, a second study concludes. ( 22745975 )
2012
47
Costs for traditional meds static while specialty drug costs soar. ( 22792564 )
2012
48
What you should know about: staying on your meds. ( 22991734 )
2012
49
Risky anticoagulants: meds have the potential to turn minor trauma into a major disaster. ( 23189787 )
2012
50
PURLs: patient overusing antianxiety meds? Say so (in a letter). ( 23256097 )
2012

Variations for Microcephaly, Epilepsy, and Diabetes Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 IER3IP1 p.Val21Gly VAR_066569 rs387907011
2 IER3IP1 p.Leu78Pro VAR_066570 rs387907012

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

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 IER3IP1 NM_016097.4(IER3IP1): c.62T> G (p.Val21Gly) single nucleotide variant Pathogenic rs387907011 GRCh37 Chromosome 18, 44702587: 44702587
2 IER3IP1 NM_016097.4(IER3IP1): c.62T> G (p.Val21Gly) single nucleotide variant Pathogenic rs387907011 GRCh38 Chromosome 18, 47176216: 47176216
3 IER3IP1 NM_016097.4(IER3IP1): c.233T> C (p.Leu78Pro) single nucleotide variant Pathogenic rs387907012 GRCh37 Chromosome 18, 44682564: 44682564
4 IER3IP1 NM_016097.4(IER3IP1): c.233T> C (p.Leu78Pro) single nucleotide variant Pathogenic rs387907012 GRCh38 Chromosome 18, 47156193: 47156193
5 IER3IP1 NM_016097.4(IER3IP1): c.80delT (p.Phe27Serfs) deletion Pathogenic rs863223399 GRCh38 Chromosome 18, 47176198: 47176198
6 IER3IP1 NM_016097.4(IER3IP1): c.80delT (p.Phe27Serfs) deletion Pathogenic rs863223399 GRCh37 Chromosome 18, 44702569: 44702569
7 IER3IP1 NM_016097.4(IER3IP1): c.170G> A (p.Arg57Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149009126 GRCh38 Chromosome 18, 47157459: 47157459
8 IER3IP1 NM_016097.4(IER3IP1): c.170G> A (p.Arg57Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149009126 GRCh37 Chromosome 18, 44683830: 44683830
9 IER3IP1 NM_016097.4(IER3IP1): c.147A> G (p.Lys49=) single nucleotide variant Benign/Likely benign rs61729777 GRCh38 Chromosome 18, 47157482: 47157482
10 IER3IP1 NM_016097.4(IER3IP1): c.147A> G (p.Lys49=) single nucleotide variant Benign/Likely benign rs61729777 GRCh37 Chromosome 18, 44683853: 44683853
11 IER3IP1 NM_016097.4(IER3IP1): c.138G> A (p.Pro46=) single nucleotide variant Likely benign rs371854032 GRCh38 Chromosome 18, 47157491: 47157491
12 IER3IP1 NM_016097.4(IER3IP1): c.138G> A (p.Pro46=) single nucleotide variant Likely benign rs371854032 GRCh37 Chromosome 18, 44683862: 44683862
13 IER3IP1 NM_016097.4(IER3IP1): c.223A> G (p.Ile75Val) single nucleotide variant Uncertain significance rs536988795 GRCh37 Chromosome 18, 44682574: 44682574
14 IER3IP1 NM_016097.4(IER3IP1): c.223A> G (p.Ile75Val) single nucleotide variant Uncertain significance rs536988795 GRCh38 Chromosome 18, 47156203: 47156203
15 IER3IP1 NM_016097.4(IER3IP1): c.12C> A (p.Thr4=) single nucleotide variant Likely benign GRCh37 Chromosome 18, 44702637: 44702637
16 IER3IP1 NM_016097.4(IER3IP1): c.12C> A (p.Thr4=) single nucleotide variant Likely benign GRCh38 Chromosome 18, 47176266: 47176266
17 IER3IP1 NC_000018.10: g.(?_47156157)_(47176297_?)dup duplication Uncertain significance GRCh37 Chromosome 18, 44682528: 44702668
18 IER3IP1 NC_000018.10: g.(?_47156157)_(47176297_?)dup duplication Uncertain significance GRCh38 Chromosome 18, 47156157: 47176297
19 IER3IP1 NM_016097.4(IER3IP1): c.215C> T (p.Ser72Leu) single nucleotide variant Uncertain significance rs200201845 GRCh38 Chromosome 18, 47156211: 47156211
20 IER3IP1 NM_016097.4(IER3IP1): c.215C> T (p.Ser72Leu) single nucleotide variant Uncertain significance rs200201845 GRCh37 Chromosome 18, 44682582: 44682582
21 IER3IP1 NM_016097.4(IER3IP1): c.217A> G (p.Ile73Val) single nucleotide variant Uncertain significance rs923756205 GRCh38 Chromosome 18, 47156209: 47156209
22 IER3IP1 NM_016097.4(IER3IP1): c.217A> G (p.Ile73Val) single nucleotide variant Uncertain significance rs923756205 GRCh37 Chromosome 18, 44682580: 44682580

Expression for Microcephaly, Epilepsy, and Diabetes Syndrome

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

Pathways for Microcephaly, Epilepsy, and Diabetes Syndrome

GO Terms for Microcephaly, Epilepsy, and Diabetes Syndrome

Sources for Microcephaly, Epilepsy, and Diabetes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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