MCID: MHM001
MIFTS: 28

Mehmo Syndrome

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

Aliases & Classifications for Mehmo Syndrome

MalaCards integrated aliases for Mehmo Syndrome:

Name: Mehmo Syndrome 57 12 59 75 29 6 44 15
Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 57 12 75 40 73
Mrxs20 57 12 75
Mrxs25 57 12 75
X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome 12 59
Mental Retardation, X-Linked, Syndromic, Borck Type 57 75
Mental Retardation, X-Linked, Syndromic 20 57 75
Mental Retardation, X-Linked, Syndromic 25 57 75
Mrxsbrk 57 75
Mehmo 57 75
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:
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 hypopituitarism. An important gene associated with Mehmo Syndrome is EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma). Related phenotypes are obesity and nystagmus

UniProtKB/Swiss-Prot : 75 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 11.4
2 hypopituitarism 9.8
3 hypoglycemia 9.8
4 microcephaly 9.0 EIF2S3 MEHMO

Symptoms & Phenotypes for Mehmo Syndrome

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 Eyes:
strabismus
myopia

Head And Neck Nose:
broad nasal tip
flat nasal tip

Neurologic Behavioral Psychiatric Manifestations:
autistic features
aggression
behavioral abnormalities

Growth Weight:
obesity (1 patient)

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 Other:
poor overall growth

Skeletal Feet:
achilles tendon shortening


Clinical features from OMIM:

300148

Human phenotypes related to Mehmo Syndrome:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 very rare (1%) Very frequent (99-80%) HP:0001513
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
4 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 hyperreflexia 59 32 very rare (1%) Frequent (79-30%) HP:0001347
7 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
8 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
9 microcephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0000252
10 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
11 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
12 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
13 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
14 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
15 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
16 agitation 59 32 frequent (33%) Frequent (79-30%) HP:0000713
17 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
18 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
19 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
20 large earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0009748
21 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
22 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
23 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
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 hypoplasia of penis 59 Very frequent (99-80%)
28 small for gestational age 32 very rare (1%) HP:0001518
29 external genital hypoplasia 59 Very frequent (99-80%)
30 muscular hypotonia of the trunk 32 very rare (1%) HP:0008936
31 birth length less than 3rd percentile 32 very rare (1%) HP:0003561

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

Publications for Mehmo Syndrome

Articles related to Mehmo Syndrome:

# Title Authors Year
1
Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. ( 29303605 )
2018

Variations for Mehmo Syndrome

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

75
# 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

GO Terms for Mehmo Syndrome

Sources for Mehmo 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
Content
Loading form....