MEHMO
MCID: MHM001
MIFTS: 37

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 57 12 59 74 37 29 13 6 44 15
Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 57 12 74 40 72
Mrxs20 57 12 74
Mrxs25 57 12 74
X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome 12 59
Mental Retardation, X-Linked, Syndromic, Borck Type 57 74
Mental Retardation, X-Linked, Syndromic 20 57 74
Mental Retardation, X-Linked, Syndromic 25 57 74
Mrxsbrk 57 74
Mehmo 57 74
Mental Retardation, X-Linked, Syndromic, Borck Type; Mrxsbrk 57
Mental Retardation, X-Linked, Syndromic 20; Mrxs20 57
Mental Retardation, X-Linked, Syndromic 25; Mrxs25 57
Syndromic X-Linked Mental Retardation 20 12
Syndromic X-Linked Mental Retardation 25 12

Characteristics:

Orphanet epidemiological data:

59
mehmo syndrome
Inheritance: Mitochondrial inheritance,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Miscellaneous:
variable severity
obligate female carriers are unaffected
three unrelated families have been reported (last curated october 2016)

Inheritance:
x-linked recessive


HPO:

32
mehmo syndrome:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060801
KEGG 37 H02195
MESH via Orphanet 45 C537451
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1846278 C2931496
Orphanet 59 ORPHA85282
MedGen 42 C1846278
UMLS 72 C1846278

Summaries for Mehmo Syndrome

KEGG : 37
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).

MalaCards based summary : Mehmo Syndrome, also known as mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, is related to intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity and visual epilepsy. An important gene associated with Mehmo Syndrome is EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma), and among its related pathways/superpathways is RNA transport. 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.

UniProtKB/Swiss-Prot : 74 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

Diseases related to Mehmo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 11.8
2 visual epilepsy 10.4
3 seizure disorder 10.4
4 lactic acidosis 10.1
5 alacrima, achalasia, and mental retardation syndrome 10.1
6 hypogonadism 10.1
7 hypogonadotropism 10.1
8 hypopituitarism 10.1
9 hypoglycemia 10.1
10 microcephaly 10.1

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:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 very rare (1%) Very frequent (99-80%) HP:0001513
2 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
3 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
4 microcephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0000252
5 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
6 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
7 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
8 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
9 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
10 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
11 large earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0009748
12 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
13 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
14 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
15 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
16 hyperreflexia 59 32 very rare (1%) Frequent (79-30%) HP:0001347
17 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
18 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
19 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
20 agitation 59 32 frequent (33%) Frequent (79-30%) HP:0000713
21 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
22 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
23 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
24 spasticity 32 very rare (1%) HP:0001257
25 global developmental delay 32 very rare (1%) HP:0001263
26 male hypogonadism 32 very rare (1%) HP:0000026
27 small for gestational age 32 very rare (1%) HP:0001518
28 muscular hypotonia of the trunk 32 very rare (1%) HP:0008936
29 birth length less than 3rd percentile 32 very rare (1%) HP:0003561
30 intellectual disability 32 HP:0001249
31 macrotia 32 HP:0000400
32 widely spaced teeth 32 HP:0000687
33 delayed speech and language development 32 HP:0000750
34 delayed puberty 32 HP:0000823
35 hypoglycemia 32 HP:0001943
36 cleft palate 32 HP:0000175
37 long philtrum 32 HP:0000343
38 open mouth 32 HP:0000194
39 broad nasal tip 32 HP:0000455
40 generalized hypotonia 32 HP:0001290
41 strabismus 32 HP:0000486
42 myopia 32 HP:0000545
43 gait ataxia 32 HP:0002066
44 babinski sign 32 HP:0003487
45 inability to walk 32 HP:0002540
46 ventriculomegaly 32 HP:0002119
47 aggressive behavior 32 HP:0000718
48 long face 32 HP:0000276
49 hypoplasia of penis 59 Very frequent (99-80%)
50 difficulty walking 32 HP:0002355

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Brain, Pancreas, Pituitary

Publications for Mehmo Syndrome

Articles related to Mehmo Syndrome:

(show all 12)
# Title Authors PMID Year
1
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 38 8 71
28055140 2017
2
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. 8 71
27333055 2016
3
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. 8 71
23063529 2012
4
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. 8
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. 8
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. 8
9781023 1998
7
[Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?]. 8
2635712 1989
8
MEHMO syndrome and the link between brain, pituitary and pancreas. 38
30954456 2019
9
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. 38
30878599 2019
10
MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. 38
30517694 2019
11
Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. 38
29303605 2018
12
Overstressed response to EIF2S3 variants in MEHMO syndrome. 38
28301896 2017

Variations for Mehmo Syndrome

ClinVar genetic disease variations for Mehmo Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EIF2S3 NM_001415.4(EIF2S3): c.777T> G (p.Ile259Met) single nucleotide variant Pathogenic rs886040856 X:24084119-24084119 X:24066002-24066002
2 EIF2S3 NM_001415.4(EIF2S3): c.665T> C (p.Ile222Thr) single nucleotide variant Pathogenic rs886040855 X:24082345-24082345 X:24064228-24064228
3 EIF2S3 NM_001415.4(EIF2S3): c.1394_1397del (p.Ile465fs) deletion Pathogenic/Likely pathogenic rs886040857 X:24094877-24094880 X:24076760-24076763
4 EIF2S3 NM_001415.4(EIF2S3): c.431C> T (p.Thr144Ile) single nucleotide variant Likely pathogenic rs751468976 X:24078252-24078252 X:24060135-24060135
5 EIF2S3 NM_001415.4(EIF2S3): c.324T> A (p.Ser108Arg) single nucleotide variant Uncertain significance rs1057515578 X:24075812-24075812 X:24057695-24057695

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

74
# 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:

37
# Name Kegg Source Accession
1 RNA transport hsa03013

GO Terms for Mehmo Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 8.96 GTPBP4 EIF2S3
2 GTPase activity GO:0003924 8.62 GTPBP4 EIF2S3

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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