MEHMO
MCID: MHM001
MIFTS: 47

Mehmo Syndrome (MEHMO)

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

Aliases & Classifications for Mehmo Syndrome

MalaCards integrated aliases for Mehmo Syndrome:

Name: Mehmo Syndrome 56 12 52 58 73 36 29 13 6 43 15
Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 56 12 73 39 71
Mrxs20 56 12 73
Mrxs25 56 12 73
Mehmo 56 52 73
X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome 12 58
Mental Retardation, X-Linked, Syndromic, Borck Type 56 73
Mental Retardation, X-Linked, Syndromic 20 56 73
Mental Retardation, X-Linked, Syndromic 25 56 73
Mrxsbrk 56 73
Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 52
Mental Retardation, X-Linked, Syndromic, Borck Type; Mrxsbrk 56
Mental Retardation, X-Linked, Syndromic 20; Mrxs20 56
Mental Retardation, X-Linked, Syndromic 25; Mrxs25 56
Syndromic X-Linked Mental Retardation 20 12
Syndromic X-Linked Mental Retardation 25 12
X-Linked Mehmo Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
mehmo syndrome
Inheritance: Mitochondrial inheritance,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Miscellaneous:
variable severity
obligate female carriers are unaffected
three unrelated families have been reported (last curated october 2016)

Inheritance:
x-linked recessive


HPO:

31
mehmo syndrome:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Mehmo Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85282 Definition MEHMO syndrome is characterised by severe intellectual deficit, epilepsy , microcephaly , hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mehmo Syndrome, also known as mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, is related to visual epilepsy and seizure disorder. An important gene associated with Mehmo Syndrome is EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma), and among its related pathways/superpathways are RNA transport and Metabolism of proteins. Affiliated tissues include brain, pancreas and pituitary, and related phenotypes are obesity and eeg abnormality

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has material basis in variation in the chromosome region Xp22.13-p21.1.

KEGG : 36 MEHMO syndrome is a rare X-linked syndrome characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It has been reported that MEHMO syndrome is associated with mutations in the X chromosome gene EIF2S3. EIF2S3 encodes the subunit of the eukaryotic translation initiation factor 2 (eIF2).

UniProtKB/Swiss-Prot : 73 MEHMO syndrome: An X-linked recessive mental retardation syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity.

More information from OMIM: 300148 PS309510

Related Diseases for Mehmo Syndrome

Graphical network of the top 20 diseases related to Mehmo Syndrome:



Diseases related to Mehmo Syndrome

Symptoms & Phenotypes for Mehmo Syndrome

Human phenotypes related to Mehmo Syndrome:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 very rare (1%) Very frequent (99-80%) HP:0001513
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
4 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
5 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
6 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
7 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
8 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
9 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
10 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
11 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
12 large earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009748
13 seizures 58 31 very rare (1%) Frequent (79-30%) HP:0001250
14 hyperreflexia 58 31 very rare (1%) Frequent (79-30%) HP:0001347
15 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
16 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
17 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
18 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
19 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
20 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
21 agitation 58 31 frequent (33%) Frequent (79-30%) HP:0000713
22 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
23 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
24 spasticity 31 very rare (1%) HP:0001257
25 global developmental delay 31 very rare (1%) HP:0001263
26 male hypogonadism 31 very rare (1%) HP:0000026
27 small for gestational age 31 very rare (1%) HP:0001518
28 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
29 birth length less than 3rd percentile 31 very rare (1%) HP:0003561
30 intellectual disability 31 HP:0001249
31 macrotia 31 HP:0000400
32 widely spaced teeth 31 HP:0000687
33 delayed speech and language development 31 HP:0000750
34 delayed puberty 31 HP:0000823
35 hypoglycemia 31 HP:0001943
36 cleft palate 31 HP:0000175
37 long philtrum 31 HP:0000343
38 open mouth 31 HP:0000194
39 broad nasal tip 31 HP:0000455
40 generalized hypotonia 31 HP:0001290
41 strabismus 31 HP:0000486
42 myopia 31 HP:0000545
43 gait ataxia 31 HP:0002066
44 babinski sign 31 HP:0003487
45 inability to walk 31 HP:0002540
46 ventriculomegaly 31 HP:0002119
47 poor speech 31 HP:0002465
48 aggressive behavior 31 HP:0000718
49 long face 31 HP:0000276
50 growth hormone deficiency 31 HP:0000824

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
global developmental delay
inability to walk
more
Growth Height:
short stature

Head And Neck Mouth:
cleft palate
open mouth
drooling
cleft lip

Head And Neck Nose:
broad nasal tip
flat nasal tip

Genitourinary External Genitalia Male:
hypogonadism
micropenis

Neurologic Behavioral Psychiatric Manifestations:
autistic features
aggression
behavioral abnormalities

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly (up to -8 sd)

Head And Neck Teeth:
widely spaced teeth

Endocrine Features:
delayed puberty
hypoglycemia
hypogonadism
growth hormone deficiency

Head And Neck Face:
long philtrum
long face
temporal narrowing
long chin

Head And Neck Eyes:
strabismus
myopia

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
large ears

Growth Weight:
obesity (1 patient)

Skeletal Feet:
achilles tendon shortening

Clinical features from OMIM:

300148

GenomeRNAi Phenotypes related to Mehmo Syndrome according to GeneCards Suite gene sharing:

26 (show all 45)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 10.62 EIF2B1 EIF2B2 EIF2B3 EIF2B4
2 Decreased NANOG protein expression GR00184-A-6 10.62 EIF2B1 EIF2B2 EIF2B3 EIF2B4
3 Decreased NANOG protein expression GR00184-A-8 10.62 EIF2B1 EIF2B2 EIF2B3 EIF2B4
4 Decreased OCT4 protein expression GR00184-A-2 10.58 EIF2B1 EIF2B2 EIF2B3 EIF2B4
5 Decreased OCT4 protein expression GR00184-A-5 10.58 EIF2B1 EIF2B2 EIF2B3 EIF2B4
6 Decreased OCT4 protein expression GR00184-A-7 10.58 EIF2B1 EIF2B2 EIF2B3 EIF2B4
7 Decreased POU5F1-GFP protein expression GR00184-A-1 10.19 EIF2B1 EIF2B2 EIF2B3 EIF2B4 PPP1R15B
8 Decreased POU5F1-GFP protein expression GR00184-A-4 10.19 EIF2B1 EIF2B2 EIF2B3 EIF2B4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.18 EIF2B2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.18 EIF2B2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.18 EIF2B4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.18 EIF2B4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.18 EIF2B1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.18 PPP1R15B
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.18 EIF2B1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.18 EIF2B4
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.18 EIF2B1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.18 EIF2B1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.18 EIF2B2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.18 EIF2B1 EIF2B2 EIF2B4 PPP1R15B
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.18 PPP1R15B
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.18 PPP1R15B
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.18 PPP1R15B
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.18 PPP1R15B
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.18 PPP1R15B
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.18 EIF2B1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.96 PPP1R15B
28 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.96 EIF2B2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.96 EIF2B2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.96 PPP1R15B
31 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.96 EIF2B2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.96 PPP1R15B
33 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.96 PPP1R15B
34 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.96 EIF2B4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.96 EIF2B4
36 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.96 EIF2B2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.96 EIF2B4
38 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.96 EIF2B2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.96 EIF2B2 EIF2B4 PPP1R15B
40 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.96 EIF2B2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.96 PPP1R15B
42 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.96 EIF2B2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.96 PPP1R15B
44 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.96 EIF2B4
45 Reduced mammosphere formation GR00396-S 9.02 DNAJC3 EIF2B1 EIF2B2 EIF2B4 EIF2S3

Drugs & Therapeutics for Mehmo Syndrome

Search Clinical Trials , NIH Clinical Center for Mehmo Syndrome

Cochrane evidence based reviews: mehmo syndrome

Genetic Tests for Mehmo Syndrome

Genetic tests related to Mehmo Syndrome:

# Genetic test Affiliating Genes
1 Mehmo Syndrome 29 EIF2S3

Anatomical Context for Mehmo Syndrome

MalaCards organs/tissues related to Mehmo Syndrome:

40
Brain, Pancreas, Pituitary

Publications for Mehmo Syndrome

Articles related to Mehmo Syndrome:

(show all 13)
# Title Authors PMID Year
1
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 61 56 6
28055140 2017
2
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. 56 6
27333055 2016
3
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. 56 6
23063529 2012
4
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. 56
12032729 2002
5
MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity. 56
10482947 1999
6
MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. 56
9781023 1998
7
[Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?]. 56
2635712 1989
8
Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB. 61
31836389 2019
9
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. 61
30878599 2019
10
MEHMO syndrome and the link between brain, pituitary and pancreas. 61
30954456 2019
11
MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. 61
30517694 2019
12
Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. 61
29303605 2018
13
Overstressed response to EIF2S3 variants in MEHMO syndrome. 61
28301896 2017

Variations for Mehmo Syndrome

ClinVar genetic disease variations for Mehmo Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EIF2S3 NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr)SNV Pathogenic 267205 rs886040855 X:24082345-24082345 X:24064228-24064228
2 EIF2S3 NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met)SNV Pathogenic 267206 rs886040856 X:24084119-24084119 X:24066002-24066002
3 EIF2S3 NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs)deletion Pathogenic/Likely pathogenic 265789 rs886040857 X:24094874-24094877 X:24076757-24076760
4 EIF2S3 NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile)SNV Likely pathogenic 488501 rs751468976 X:24078252-24078252 X:24060135-24060135
5 EIF2S3 NM_001415.4(EIF2S3):c.433A>G (p.Met145Val)SNV Likely pathogenic 804299 X:24078254-24078254 X:24060137-24060137
6 EIF2S3 NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg)SNV Uncertain significance 265790 rs1057515578 X:24075812-24075812 X:24057695-24057695

UniProtKB/Swiss-Prot genetic disease variations for Mehmo Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 EIF2S3 p.Ile222Thr VAR_077139 rs886040855

Expression for Mehmo Syndrome

Search GEO for disease gene expression data for Mehmo Syndrome.

Pathways for Mehmo Syndrome

Pathways related to Mehmo Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 RNA transport hsa03013

Pathways related to Mehmo Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1 DNAJC3
2
Show member pathways
13.31 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1 DNAJC3
3
Show member pathways
12.82 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
4
Show member pathways
12.44 EIF2B4 EIF2B3 EIF2B2 EIF2B1
5
Show member pathways
12.33 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
6
Show member pathways
12.32 EIF2B4 EIF2B3 EIF2B2 EIF2B1
7 12.25 EIF2B4 EIF2B3 EIF2B2 EIF2B1
8 11.57 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
9
Show member pathways
10.81 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1

GO Terms for Mehmo Syndrome

Cellular components related to Mehmo Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 eukaryotic translation initiation factor 2B complex GO:0005851 8.92 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Biological processes related to Mehmo Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.8 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 T cell receptor signaling pathway GO:0050852 9.73 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3 response to glucose GO:0009749 9.67 EIF2B4 EIF2B3 EIF2B2 EIF2B1
4 regulation of translation GO:0006417 9.65 PPP1R15B EIF2B4 DNAJC3
5 response to peptide hormone GO:0043434 9.56 EIF2B4 EIF2B3 EIF2B2 EIF2B1
6 response to endoplasmic reticulum stress GO:0034976 9.54 PPP1R15B DNAJC3
7 myelination GO:0042552 9.52 EIF2B4 EIF2B2
8 ovarian follicle development GO:0001541 9.51 EIF2B4 EIF2B2
9 cellular metabolic process GO:0044237 9.5 EIF2B4 EIF2B2 EIF2B1
10 regulation of translational initiation GO:0006446 9.49 EIF2B2 EIF2B1
11 negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation GO:1903912 9.46 PPP1R15B DNAJC3
12 response to heat GO:0009408 9.46 EIF2B4 EIF2B3 EIF2B2 EIF2B1
13 translational initiation GO:0006413 9.35 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
14 oligodendrocyte development GO:0014003 8.92 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Molecular functions related to Mehmo Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.26 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 translation factor activity, RNA binding GO:0008135 9.16 EIF2S3 EIF2B3
3 translation initiation factor activity GO:0003743 9.02 EIF2S3 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Sources for Mehmo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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