MEHMO
MCID: MHM001
MIFTS: 33

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 58 12 60 76 38 30 6 45 15
Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 58 12 76 41 74
Mrxs20 58 12 76
Mrxs25 58 12 76
X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome 12 60
Mental Retardation, X-Linked, Syndromic, Borck Type 58 76
Mental Retardation, X-Linked, Syndromic 20 58 76
Mental Retardation, X-Linked, Syndromic 25 58 76
Mrxsbrk 58 76
Mehmo 58 76
Mental Retardation, X-Linked, Syndromic, Borck Type; Mrxsbrk 58
Mental Retardation, X-Linked, Syndromic 20; Mrxs20 58
Mental Retardation, X-Linked, Syndromic 25; Mrxs25 58
Syndromic X-Linked Mental Retardation 20 12
Syndromic X-Linked Mental Retardation 25 12

Characteristics:

Orphanet epidemiological data:

60
mehmo syndrome
Inheritance: Mitochondrial inheritance,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Miscellaneous:
variable severity
obligate female carriers are unaffected
three unrelated families have been reported (last curated october 2016)

Inheritance:
x-linked recessive


HPO:

33
mehmo syndrome:
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mehmo Syndrome

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.

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 microcephaly. 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. Related phenotypes are obesity and eeg abnormality

UniProtKB/Swiss-Prot : 76 MEHMO syndrome: An X-linked recessive mental retardation syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity.

Description from OMIM: 300148

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 11.6
2 microcephaly 11.6
3 perrault syndrome 1 11.1
4 hypogonadism 10.2
5 alacrima, achalasia, and mental retardation syndrome 10.0
6 hypopituitarism 10.0
7 hypoglycemia 10.0

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:

60 33 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 very rare (1%) Very frequent (99-80%) HP:0001513
2 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
3 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
4 microcephaly 60 33 very rare (1%) Very frequent (99-80%) HP:0000252
5 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
6 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
7 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
8 growth delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001510
9 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
10 large earlobe 60 33 hallmark (90%) Very frequent (99-80%) HP:0009748
11 sloping forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000340
12 micropenis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000054
13 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
14 seizures 60 33 very rare (1%) Frequent (79-30%) HP:0001250
15 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
16 hyperreflexia 60 33 very rare (1%) Frequent (79-30%) HP:0001347
17 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
18 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
19 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
20 agitation 60 33 frequent (33%) Frequent (79-30%) HP:0000713
21 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
22 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
23 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
24 spasticity 33 very rare (1%) HP:0001257
25 global developmental delay 33 very rare (1%) HP:0001263
26 male hypogonadism 33 very rare (1%) HP:0000026
27 small for gestational age 33 very rare (1%) HP:0001518
28 muscular hypotonia of the trunk 33 very rare (1%) HP:0008936
29 birth length less than 3rd percentile 33 very rare (1%) HP:0003561
30 intellectual disability 33 HP:0001249
31 delayed speech and language development 33 HP:0000750
32 delayed puberty 33 HP:0000823
33 hypoglycemia 33 HP:0001943
34 cleft palate 33 HP:0000175
35 long philtrum 33 HP:0000343
36 strabismus 33 HP:0000486
37 myopia 33 HP:0000545
38 gait ataxia 33 HP:0002066
39 babinski sign 33 HP:0003487
40 inability to walk 33 HP:0002540
41 ventriculomegaly 33 HP:0002119
42 aggressive behavior 33 HP:0000718
43 open mouth 33 HP:0000194
44 broad nasal tip 33 HP:0000455
45 long face 33 HP:0000276
46 hypoplasia of penis 60 Very frequent (99-80%)
47 difficulty walking 33 HP:0002355
48 generalized hypotonia 33 HP:0001290
49 spastic tetraparesis 33 HP:0001285
50 hypoplasia of the corpus callosum 33 HP:0002079

Symptoms via clinical synopsis from OMIM:

58
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 Eyes:
strabismus
myopia

Head And Neck Nose:
broad nasal tip
flat nasal tip

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

Genitourinary External Genitalia Male:
hypogonadism
micropenis

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 30 EIF2S3

Anatomical Context for Mehmo Syndrome

Publications for Mehmo Syndrome

Articles related to Mehmo Syndrome:

# Title Authors Year
1
MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. ( 30517694 )
2019
2
Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. ( 29303605 )
2018
3
Overstressed response to EIF2S3 variants in MEHMO syndrome. ( 28301896 )
2017

Variations for Mehmo Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 EIF2S3 p.Ile222Thr VAR_077139 rs886040855

ClinVar genetic disease variations for Mehmo Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EIF2S3 NM_001415.3(EIF2S3): c.1394_1397delTCAA (p.Ile465Serfs) deletion Pathogenic/Likely pathogenic rs886040857 GRCh37 Chromosome X, 24094877: 24094880
2 EIF2S3 NM_001415.3(EIF2S3): c.1394_1397delTCAA (p.Ile465Serfs) deletion Pathogenic/Likely pathogenic rs886040857 GRCh38 Chromosome X, 24076760: 24076763
3 EIF2S3 NM_001415.3(EIF2S3): c.324T> A (p.Ser108Arg) single nucleotide variant Uncertain significance rs1057515578 GRCh37 Chromosome X, 24075812: 24075812
4 EIF2S3 NM_001415.3(EIF2S3): c.324T> A (p.Ser108Arg) single nucleotide variant Uncertain significance rs1057515578 GRCh38 Chromosome X, 24057695: 24057695
5 EIF2S3 NM_001415.3(EIF2S3): c.665T> C (p.Ile222Thr) single nucleotide variant Pathogenic rs886040855 GRCh37 Chromosome X, 24082345: 24082345
6 EIF2S3 NM_001415.3(EIF2S3): c.665T> C (p.Ile222Thr) single nucleotide variant Pathogenic rs886040855 GRCh38 Chromosome X, 24064228: 24064228
7 EIF2S3 NM_001415.3(EIF2S3): c.777T> G (p.Ile259Met) single nucleotide variant Pathogenic rs886040856 GRCh37 Chromosome X, 24084119: 24084119
8 EIF2S3 NM_001415.3(EIF2S3): c.777T> G (p.Ile259Met) single nucleotide variant Pathogenic rs886040856 GRCh38 Chromosome X, 24066002: 24066002
9 EIF2S3 NM_001415.3(EIF2S3): c.431C> T (p.Thr144Ile) single nucleotide variant Likely pathogenic rs751468976 GRCh37 Chromosome X, 24078252: 24078252
10 EIF2S3 NM_001415.3(EIF2S3): c.431C> T (p.Thr144Ile) single nucleotide variant Likely pathogenic rs751468976 GRCh38 Chromosome X, 24060135: 24060135

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:

38
# 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 GTPase activity GO:0003924 8.62 EIF2S3 GTPBP4

Sources for Mehmo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....