MEHMO
MCID: MHM001
MIFTS: 49

Mehmo Syndrome (MEHMO)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Mehmo Syndrome

MalaCards integrated aliases for Mehmo Syndrome:

Name: Mehmo Syndrome 57 11 19 58 73 28 5 43 14
Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 57 11 38 71
X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome 11 19 58
Mrxs20 57 11 73
Mrxs25 57 11 73
Mehmo 57 19 73
Mrxsbrk 57 73
Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 19
Mental Retardation, X-Linked, Syndromic, Borck Type 57
Mental Retardation, X-Linked, Syndromic 20 57
Mental Retardation, X-Linked, Syndromic 25 57
Syndromic X-Linked Mental Retardation 20 11
Syndromic X-Linked Mental Retardation 25 11
X-Linked Mehmo Syndrome 19

Characteristics:


Inheritance:

X-linked recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
obligate female carriers are unaffected
untreated hypoglycemia at birth may affect prognosis


HPO:

30
mehmo syndrome:
Onset and clinical course variable expressivity


Classifications:

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


Summaries for Mehmo Syndrome

OMIM®: 57 MEHMO syndrome is a rare intellectual disability disorder that exhibits phenotypic heterogeneity and is variably characterized by mental retardation, epileptic seizures, hypogonadism with hypogenitalism, microcephaly, and obesity. Life expectancy ranges from less than 1 year to adulthood, and the condition is associated with significant morbidity and mortality (summary by Gregory et al., 2019). (300148) (Updated 08-Dec-2022)

MalaCards based summary: Mehmo Syndrome, also known as mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, is related to microcephaly and hypogonadism. An important gene associated with Mehmo Syndrome is EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma), and among its related pathways/superpathways are Metabolism of proteins and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include pituitary, thyroid and brain, and related phenotypes are eeg abnormality and thick vermilion border

Disease Ontology: 11 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.

GARD: 19 A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.

Orphanet: 58 A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.

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

Related Diseases for Mehmo Syndrome

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 microcephaly 10.4
2 hypogonadism 10.2
3 visual epilepsy 10.1
4 pseudovaginal perineoscrotal hypospadias 10.1
5 multiple congenital anomalies-neurodevelopmental syndrome, x-linked 10.1
6 hypopituitarism 10.1
7 hypoglycemia 10.1
8 penis agenesis 10.1
9 cryptorchidism, unilateral or bilateral 10.0
10 urinary tract infection 10.0
11 acute necrotizing pancreatitis 10.0
12 glucose intolerance 10.0
13 adult respiratory distress syndrome 10.0
14 hypothyroidism 10.0
15 epilepsy 10.0
16 hypertrichosis 10.0
17 pancreatitis 10.0
18 spastic ataxia 8 9.9 EIF2B4 EIF2B3
19 glycogen storage disease xv 9.9 EIF2B4 EIF2B3
20 turner syndrome 9.9
21 lactic acidosis 9.9
22 mitochondrial disease 9.9
23 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.9 PPP1R15B IER3IP1 EIF2S1 DNAJC3
24 leukodystrophy, hypomyelinating, 9 9.9 EIF2B4 EIF2B3
25 leukoencephalopathy, hereditary diffuse, with spheroids 1 9.8 EIF2B5 EIF2B4 EIF2B3
26 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 9.8 EIF2B4 EIF2B3
27 hemangioma of intra-abdominal structure 9.7 EIF2B4 EIF2B3 EIF2B2
28 leukodystrophy, hypomyelinating, 13 9.7 EIF2B4 EIF2B3 EIF2B2
29 leukodystrophy, hypomyelinating, 12 9.7 EIF2B4 EIF2B3 EIF2B2
30 leukodystrophy, hypomyelinating, 10 9.7 EIF2B4 EIF2B3 EIF2B2
31 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.7 EIF2B4 EIF2B3 EIF2B2
32 childhood ataxia with central nervous system hypomyelination / vanishing white matter 9.6 EIF2B5 EIF2B4 EIF2B3 EIF2B2
33 combined saposin deficiency 9.6 EIF2B5 EIF2B4 EIF2B3 EIF2B2
34 leukodystrophy 9.6 EIF2B5 EIF2B4 EIF2B3 EIF2B2
35 cerebral degeneration 9.6 EIF2B5 EIF2B4 EIF2B3 EIF2B2
36 leukoencephalopathy with vanishing white matter 8.7 PPP1R15B IER3IP1 EIF2S3 EIF2S2 EIF2S1 EIF2B5

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 30 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
2 thick vermilion border 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012471
3 microcephaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000252
4 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
5 cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000028
6 growth delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001510
7 obesity 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001513
8 micropenis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000054
9 round face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000311
10 severe global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011344
11 large earlobe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009748
12 sloping forehead 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000340
13 seizure 58 30 Very rare (1%) Frequent (79-30%)
HP:0001250
14 hyperreflexia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001347
15 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
16 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
17 hypertonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001276
18 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
HP:0000293
19 talipes equinovarus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001762
20 downturned corners of mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0002714
21 tapered finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0001182
22 agitation 58 30 Frequent (33%) Frequent (79-30%)
HP:0000713
23 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
24 spasticity 30 Very rare (1%) HP:0001257
25 global developmental delay 30 Very rare (1%) HP:0001263
26 small for gestational age 30 Very rare (1%) HP:0001518
27 male hypogonadism 30 Very rare (1%) HP:0000026
28 birth length less than 3rd percentile 30 Very rare (1%) HP:0003561
29 axial hypotonia 30 Very rare (1%) HP:0008936
30 intellectual disability 30 HP:0001249
31 macrotia 30 HP:0000400
32 widely spaced teeth 30 HP:0000687
33 delayed speech and language development 30 HP:0000750
34 delayed puberty 30 HP:0000823
35 hypoglycemia 30 HP:0001943
36 strabismus 30 HP:0000486
37 cleft palate 30 HP:0000175
38 myopia 30 HP:0000545
39 open mouth 30 HP:0000194
40 long face 30 HP:0000276
41 long philtrum 30 HP:0000343
42 ventriculomegaly 30 HP:0002119
43 hypoplasia of penis 58 Very frequent (99-80%)
44 gait ataxia 30 HP:0002066
45 babinski sign 30 HP:0003487
46 depressed nasal tip 30 HP:0000437
47 difficulty walking 30 HP:0002355
48 spastic tetraparesis 30 HP:0001285
49 aggressive behavior 30 HP:0000718
50 broad nasal tip 30 HP:0000455

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
hypotonia
global developmental delay
more
Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Head And Neck Eyes:
strabismus
myopia

Genitourinary External Genitalia Male:
micropenis
hypogonadism

Abdomen Gastrointestinal:
feeding difficulties
severe gastrointestinal reflux (in 1 patient)
intestinal lymphonodular hyperplasia with eosinophilic infiltration

Abdomen Pancreas:
postprandial hyperglycemia
hyperinsulinemic hypoglycemia
fasting hypoglycemia
hypoglycemic seizures (in early childhood, in some patients)
noninsulin-dependent diabetes mellitus (in second decade of life)

Head And Neck Ears:
large ears

Growth Weight:
obesity (1 patient)

Skeletal Feet:
achilles tendon shortening

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
widely spaced teeth

Endocrine Features:
delayed puberty
hypoglycemia
hypogonadism
growth hormone deficiency
hypopituitarism
more
Head And Neck Mouth:
cleft palate
open mouth
cleft lip
drooling

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

Head And Neck Nose:
broad nasal tip
flat nasal tip

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features
aggression

Growth Other:
poor overall growth

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

Laboratory Abnormalities:
hypoketotic hypoglycemia (at birth)

Clinical features from OMIM®:

300148 (Updated 08-Dec-2022)

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

25 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased OCT4 protein expression GR00184-A-2 10.58 EIF2B2 EIF2B3 EIF2B4 EIF2S2
2 Decreased OCT4 protein expression GR00184-A-5 10.58 EIF2B2 EIF2B3 EIF2B4 EIF2S2
3 Decreased OCT4 protein expression GR00184-A-7 10.58 EIF2B2 EIF2B3 EIF2B4 EIF2S2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.53 EIF2B2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.53 EIF2B2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.53 PPP1R15B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.53 EIF2B4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.53 EIF2B2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.53 EIF2B2 EIF2B5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.53 EIF2B5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.53 PPP1R15B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.53 PPP1R15B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.53 EIF2B5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.53 EIF2B5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.53 EIF2B4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.53 EIF2B4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.53 EIF2B4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.53 EIF2B2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.53 EIF2B2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-28 10.53 PPP1R15B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.53 EIF2B5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.53 EIF2B2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.53 PPP1R15B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-71 10.53 PPP1R15B
25 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.53 EIF2B2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.53 PPP1R15B
27 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.53 EIF2B4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.53 PPP1R15B
29 Decreased NANOG protein expression GR00184-A-3 10.51 EIF2B2 EIF2B3 EIF2B4 EIF2S2
30 Decreased NANOG protein expression GR00184-A-6 10.51 EIF2B2 EIF2B3 EIF2B4 EIF2S2
31 Decreased NANOG protein expression GR00184-A-8 10.51 EIF2B2 EIF2B3 EIF2B4 EIF2S2
32 Decreased POU5F1-GFP protein expression GR00184-A-1 10.3 EIF2B2 EIF2B3 EIF2B4 EIF2S2 PPP1R15B
33 Decreased POU5F1-GFP protein expression GR00184-A-4 10.3 EIF2B2 EIF2B3 EIF2B4 EIF2S2
34 Reduced mammosphere formation GR00396-S 9.23 DNAJC3 EIF1 EIF2B2 EIF2B4 EIF2B5 EIF2S1
35 Increased viability GR00386-A-1 8.65 MAP7D2

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 28 EIF2S3

Anatomical Context for Mehmo Syndrome

Organs/tissues related to Mehmo Syndrome:

MalaCards : Pituitary, Thyroid, Brain, Pancreas
ODiseA: Brain

Publications for Mehmo Syndrome

Articles related to Mehmo Syndrome:

(show all 19)
# Title Authors PMID Year
1
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 62 57 5
28055140 2017
2
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. 57 5
27333055 2016
3
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. 57 5
23063529 2012
4
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. 62 57
30878599 2019
5
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. 62 57
12032729 2002
6
MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity. 62 57
10482947 1999
7
MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. 62 57
9781023 1998
8
[Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?]. 57
2635712 1989
9
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome. 62
35765291 2022
10
The role of eIF2 phosphorylation in cell and organismal physiology: new roles for well-known actors. 62
35604373 2022
11
mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome. 62
34999262 2022
12
Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis. 62
33714664 2021
13
Immunologic phenotype of a child with the MEHMO syndrome. 62
32901502 2020
14
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. 62
32799315 2020
15
Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB. 62
31836389 2020
16
MEHMO syndrome and the link between brain, pituitary and pancreas. 62
30954456 2019
17
MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. 62
30517694 2019
18
Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. 62
29303605 2018
19
Overstressed response to EIF2S3 variants in MEHMO syndrome. 62
28301896 2017

Variations for Mehmo Syndrome

ClinVar genetic disease variations for Mehmo Syndrome:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF2S3 NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr) SNV Pathogenic
267205 rs886040855 GRCh37: X:24082345-24082345
GRCh38: X:24064228-24064228
2 EIF2S3 NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met) SNV Pathogenic
267206 rs886040856 GRCh37: X:24084119-24084119
GRCh38: X:24066002-24066002
3 EIF2S3 NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser) SNV Pathogenic
1686856 GRCh37: X:24091319-24091319
GRCh38: X:24073202-24073202
4 EIF2S3 NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) DEL Pathogenic
265789 rs886040857 GRCh37: X:24094874-24094877
GRCh38: X:24076757-24076760
5 EIF2S3 NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) SNV Likely Pathogenic
488501 rs751468976 GRCh37: X:24078252-24078252
GRCh38: X:24060135-24060135
6 EIF2S3 NM_001415.4(EIF2S3):c.433A>G (p.Met145Val) SNV Likely Pathogenic
804299 rs1602041478 GRCh37: X:24078254-24078254
GRCh38: X:24060137-24060137
7 EIF2S3 NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val) SNV Likely Pathogenic
1077096 GRCh37: X:24084162-24084162
GRCh38: X:24066045-24066045
8 EIF2S3 NM_001415.4(EIF2S3):c.1183-15A>G SNV Uncertain Significance
1033838 rs1379305185 GRCh37: X:24091193-24091193
GRCh38: X:24073076-24073076
9 EIF2S3 NM_001415.4(EIF2S3):c.1403C>G (p.Thr468Arg) SNV Uncertain Significance
1065472 GRCh37: X:24094886-24094886
GRCh38: X:24076769-24076769
10 EIF2S3 NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) SNV Uncertain Significance
265790 rs1057515578 GRCh37: X:24075812-24075812
GRCh38: X:24057695-24057695
11 EIF2S3 NM_001415.4(EIF2S3):c.99C>T (p.His33=) SNV Benign
128994 rs36018672 GRCh37: X:24073761-24073761
GRCh38: X:24055644-24055644

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 GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 MARS1 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
2
Show member pathways
13.5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
3
Show member pathways
13.4 DNAJC3 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1
4
Show member pathways
12.92 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
5
Show member pathways
12.57 EIF2B5 EIF2B4 EIF2B3 EIF2B2
6
Show member pathways
12.53 EIF2B5 EIF2B4 EIF2B3 EIF2B2
7
Show member pathways
12.15 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
8
Show member pathways
12.06 EIF2S3 EIF2S2 EIF2S1
9
Show member pathways
12.01 SULT1A4 EIF2S3 EIF2S2 EIF2S1 DNAJC3
10
Show member pathways
12 EIF2S1 EIF2B5 EIF1 DNAJC3
11
Show member pathways
11.38 EIF2S3 EIF2S2 EIF2S1
12
Show member pathways
11.09 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
13 10.51 EIF2S3 EIF2S2 EIF2S1

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 2 complex GO:0005850 9.43 EIF2S3 EIF2S2 EIF2S1
2 eukaryotic translation initiation factor 2B complex GO:0005851 9.32 EIF2S1 EIF2B5 EIF2B4 EIF2B3 EIF2B2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 10.06 EIF2B5 EIF2B4 EIF2B3 EIF2B2
2 myelination GO:0042552 10 EIF2B5 EIF2B4 EIF2B2
3 ovarian follicle development GO:0001541 9.97 EIF2B5 EIF2B4 EIF2B2
4 response to glucose GO:0009749 9.97 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5 response to endoplasmic reticulum stress GO:0034976 9.95 PPP1R15B EIF2S1 EIF2B5 DNAJC3
6 response to peptide hormone GO:0043434 9.92 EIF2B5 EIF2B4 EIF2B3 EIF2B2
7 regulation of translation GO:0006417 9.88 DNAJC3 EIF2B4 EIF2S1 PPP1R15B
8 response to heat GO:0009408 9.86 EIF2B5 EIF2B4 EIF2B3 EIF2B2
9 formation of translation preinitiation complex GO:0001731 9.84 EIF2S3 EIF2S2
10 negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation GO:1903912 9.81 PPP1R15B DNAJC3
11 oligodendrocyte development GO:0014003 9.76 EIF2B2 EIF2B3 EIF2B4 EIF2B5
12 translation GO:0006412 9.61 MARS1 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
13 translational initiation GO:0006413 9.5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
14 cellular metabolic process GO:0044237 9.43 EIF2B4 EIF2B2

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 9.86 EIF2B5 EIF2B4 EIF2B3 EIF2B2
2 translation initiation factor binding GO:0031369 9.63 EIF2S2 EIF2B5 EIF2B4
3 translation factor activity, RNA binding GO:0008135 9.56 EIF2S3 EIF2S2 EIF2B3 EIF1
4 translation initiation factor activity GO:0003743 9.53 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3

Sources for Mehmo Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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