MCID: MCR209
MIFTS: 29

Microcephaly, Epilepsy, and Diabetes Syndrome

Categories: Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal 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 liver and bone, 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 87)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 12.0
2 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.3
3 primary mediastinal large b-cell lymphoma 10.9
4 multiple sclerosis 9.9
5 medulloblastoma 9.9
6 relapsing-remitting multiple sclerosis 9.9
7 leukoplakia 9.9
8 oral leukoplakia 9.9
9 apnea, obstructive sleep 9.8
10 sleep apnea 9.8
11 carpal tunnel syndrome 9.7
12 isolated growth hormone deficiency, type ia 9.7
13 microcephaly with simplified gyral pattern 9.7
14 aceruloplasminemia 9.7
15 mononeuropathy of the median nerve, mild 9.7
16 ataxia-oculomotor apraxia 3 9.7
17 hypospadias 9.7
18 microcephaly 9.7
19 epilepsy 9.7
20 fallopian tube carcinoma 9.7
21 acromegaly 9.7
22 dwarfism 9.7
23 endotheliitis 9.7
24 alcohol dependence 9.6
25 gastroesophageal reflux 9.6
26 b-cell growth factor 9.6
27 breast cancer 9.6
28 prader-willi syndrome 9.6
29 tuberous sclerosis 1 9.6
30 achalasia, familial esophageal 9.6
31 australia antigen 9.6
32 lung cancer 9.6
33 hypoplastic left heart syndrome 1 9.6
34 paine syndrome 9.6
35 west nile virus 9.6
36 ewing sarcoma 9.6
37 aspergillosis 9.6
38 peyronie's disease 9.6
39 alcohol abuse 9.6
40 burns 9.6
41 hemolytic anemia 9.6
42 hypoplastic left heart syndrome 9.6
43 ischemic heart disease 9.6
44 leukemia 9.6
45 nephrolithiasis 9.6
46 osteonecrosis 9.6
47 spinal cord injury 9.6
48 distal arthrogryposis 9.6
49 giardiasis 9.6
50 sarcoma 9.6

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)

GenitourinaryInternal GenitaliaMale:
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 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
18 jaundice 32 HP:0000952
19 hypogonadism 32 occasional (7.5%) HP:0000135
20 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
21 intellectual disability, profound 32 HP:0002187
22 tented upper lip vermilion 32 HP:0010804
23 brisk reflexes 32 HP:0001348
24 hypoplasia of the corpus callosum 32 HP:0002079
25 scrotal hypoplasia 32 occasional (7.5%) HP:0000046
26 hypsarrhythmia 32 HP:0002521
27 narrow forehead 32 HP:0000341
28 muscular hypotonia of the trunk 32 HP:0008936
29 cortical gyral simplification 32 HP:0009879
30 delayed myelination 32 HP:0012448
31 microalbuminuria 32 occasional (7.5%) HP:0012594

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
Liver, Bone

Publications for Microcephaly, Epilepsy, and Diabetes Syndrome

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 20)
# 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 GRCh38 Chromosome 18, 47156157: 47176297
18 IER3IP1 NC_000018.10: g.(?_47156157)_(47176297_?)dup duplication Uncertain significance GRCh37 Chromosome 18, 44682528: 44702668
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

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
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32 HPO
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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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