Mehmo Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MEHMO MCID: MHM001 MIFTS: 47	Mehmo Syndrome (MEHMO) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Neuronal diseases Endocrine diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060801

OMIM ⁵⁶ 300148

OMIM Phenotypic Series ⁵⁶ PS309510

KEGG ³⁶ H02195

MeSH ⁴³ C537451 D038901

SNOMED-CT ⁶⁷ 722037004

MESH via Orphanet ⁴⁴ C537451

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C1846278 C2931496

Orphanet ⁵⁸ ORPHA85282

MedGen ⁴¹ C1846278

SNOMED-CT via HPO ⁶⁸ 123526007 128602000 128613002 more

UMLS ⁷¹ C1846278

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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 Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include brain, pancreas and pituitary, and related phenotypes are thick vermilion border and microcephaly

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

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Related Diseases for Mehmo Syndrome

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

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	visual epilepsy	10.4
2	seizure disorder	10.4
3	alacrima, achalasia, and mental retardation syndrome	10.3
4	lactic acidosis	10.2
5	microcephaly	10.1
6	hypogonadism	10.1
7	hypopituitarism	10.1
8	hypoglycemia	10.1
9	glycogen storage disease xv	9.6	EIF2B4 EIF2B3
10	spastic ataxia 4	9.4	EIF2B2 EIF2B1
11	combined saposin deficiency	8.9	EIF2B4 EIF2B3 EIF2B2 EIF2B1
12	childhood ataxia with central nervous system hypomyelination / vanishing white matter	8.7	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
13	cerebral degeneration	8.6	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
14	leukodystrophy	8.6	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
15	leukoencephalopathy with vanishing white matter	7.7	PPP1R15B EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3

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

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Symptoms & Phenotypes for Mehmo Syndrome

Human phenotypes related to Mehmo Syndrome:

⁵⁸ ³¹ (show top 50) (show all 60)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	thick vermilion border ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012471
2	microcephaly ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000252
3	eeg abnormality ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002353
4	intellectual disability, severe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010864
5	cryptorchidism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000028
6	growth delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001510
7	obesity ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0001513
8	micropenis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000054
9	round face ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000311
10	severe global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011344
11	large earlobe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009748
12	sloping forehead ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000340
13	muscular hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001252
14	hypertonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001276
15	full cheeks ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000293
16	nystagmus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000639
17	hyperreflexia ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0001347
18	talipes equinovarus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001762
19	downturned corners of mouth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002714
20	tapered finger ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001182
21	agitation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000713
22	seizure ³¹	very rare (1%)		HP:0001250
23	diabetes mellitus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000819
24	global developmental delay ³¹	very rare (1%)		HP:0001263
25	spasticity ³¹	very rare (1%)		HP:0001257
26	small for gestational age ³¹	very rare (1%)		HP:0001518
27	male hypogonadism ³¹	very rare (1%)		HP:0000026
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	seizures ⁵⁸		Frequent (79-30%)
35	delayed puberty ³¹			HP:0000823
36	hypoglycemia ³¹			HP:0001943
37	strabismus ³¹			HP:0000486
38	cleft palate ³¹			HP:0000175
39	myopia ³¹			HP:0000545
40	open mouth ³¹			HP:0000194
41	long face ³¹			HP:0000276
42	long philtrum ³¹			HP:0000343
43	ventriculomegaly ³¹			HP:0002119
44	hypoplasia of penis ⁵⁸		Very frequent (99-80%)
45	gait ataxia ³¹			HP:0002066
46	babinski sign ³¹			HP:0003487
47	depressed nasal tip ³¹			HP:0000437
48	hypoplasia of the corpus callosum ³¹			HP:0002079
49	spastic tetraparesis ³¹			HP:0001285
50	aggressive behavior ³¹			HP:0000718

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
intellectual disability
global developmental delay
spasticity
hyperreflexia
difficulty walking
more

Growth Height:
short stature

Head And Neck Eyes:
strabismus
myopia

Genitourinary External Genitalia Male:
micropenis
hypogonadism

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 Mouth:
cleft palate
open mouth
drooling
cleft lip

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

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 top 50) (show all 52)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased NANOG protein expression	GR00184-A-3	10.72	EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
2	Decreased NANOG protein expression	GR00184-A-6	10.72	EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
3	Decreased NANOG protein expression	GR00184-A-8	10.72	EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
4	Decreased OCT4 protein expression	GR00184-A-2	10.67	EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
5	Decreased OCT4 protein expression	GR00184-A-5	10.67	EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
6	Decreased OCT4 protein expression	GR00184-A-7	10.67	EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-104	10.34	EIF2B2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.34	EIF2B1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-109	10.34	EIF2B2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-110	10.34	PPP1R15B
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	10.34	EIF2B4
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	10.34	EIF2B2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	10.34	EIF2B2 EIF2B3 EIF2B5
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	10.34	EIF2B1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-124	10.34	EIF2B5
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	10.34	PPP1R15B
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-142	10.34	PPP1R15B
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	10.34	EIF2B5 EIF2B1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	10.34	EIF2B5
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-153	10.34	EIF2B4
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	10.34	EIF2B1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-165	10.34	EIF2B1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	10.34	EIF2B1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	10.34	EIF2B4
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-180	10.34	EIF2B4
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-20	10.34	EIF2B2
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	10.34	EIF2B2
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	10.34	EIF2B3
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-28	10.34	PPP1R15B
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-33	10.34	EIF2B5
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	10.34	EIF2B1
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-69	10.34	EIF2B2
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-70	10.34	PPP1R15B
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-71	10.34	PPP1R15B
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-76	10.34	EIF2B2
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	10.34	PPP1R15B
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	10.34	EIF2B4
38	Increased shRNA abundance (Z-score > 2)	GR00366-A-84	10.34	PPP1R15B
39	Increased shRNA abundance (Z-score > 2)	GR00366-A-89	10.34	EIF2B1
40	Decreased POU5F1-GFP protein expression	GR00184-A-1	10.28	EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2 PPP1R15B
41	Decreased POU5F1-GFP protein expression	GR00184-A-4	10.28	EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
42	Decreased shRNA abundance (Z-score < -2)	GR00366-A-112	10	EIF2B4
43	Decreased shRNA abundance (Z-score < -2)	GR00366-A-135	10	EIF2B2
44	Decreased shRNA abundance (Z-score < -2)	GR00366-A-137	10	PPP1R15B
45	Decreased shRNA abundance (Z-score < -2)	GR00366-A-16	10	PPP1R15B
46	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	10	EIF2B2 EIF2B4 PPP1R15B
47	Decreased shRNA abundance (Z-score < -2)	GR00366-A-42	10	EIF2B4
48	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	10	PPP1R15B
49	Decreased shRNA abundance (Z-score < -2)	GR00366-A-54	10	EIF2B2
50	Decreased shRNA abundance (Z-score < -2)	GR00366-A-55	10	PPP1R15B

Sources

Drugs & Therapeutics for Mehmo Syndrome

Search Clinical Trials , NIH Clinical Center for Mehmo Syndrome

Cochrane evidence based reviews: mehmo syndrome

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Genetic Tests for Mehmo Syndrome

Genetic tests related to Mehmo Syndrome:

#	Genetic test	Affiliating Genes
1	Mehmo Syndrome ²⁹	EIF2S3

Sources

Anatomical Context for Mehmo Syndrome

MalaCards organs/tissues related to Mehmo Syndrome:

⁴⁰

Brain, Pancreas, Pituitary

Sources

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. ⁵⁶ ⁶ ⁶¹	Skopkova M...Kalscheuer VM	28055140	2017
2	Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. ⁶ ⁵⁶	Moortgat S...Maystadt I	27333055	2016
3	eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. ⁶ ⁵⁶	Borck G...Basel-Vanagaite L	23063529	2012
4	MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. ⁵⁶	Leshinsky-Silver E...Sagie TL	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	DeLozier-Blanchet CD...Bottani A	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	Steinmuller R...Muller U	9781023	1998
7	[Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?]. ⁵⁶	Delozier-Blanchet CD...Engel E	2635712	1989
8	Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB. ⁶¹	Young-Baird SK...Dever TE	31836389	2020
9	Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. ⁶¹	Gregory LC...Dattani MT	30878599	2019
10	MEHMO syndrome and the link between brain, pituitary and pancreas. ⁶¹	Maghnie M...Barbetti F	30954456	2019
11	MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. ⁶¹	Young-Baird SK...Dever TE	30517694	2019
12	Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. ⁶¹	Stanik J...Gasperikova D	29303605	2018
13	Overstressed response to EIF2S3 variants in MEHMO syndrome. ⁶¹	Michaud JL	28301896	2017

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Genes for Mehmo Syndrome

Genes related to Mehmo Syndrome (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EIF2S3	Eukaryotic Translation Initiation Factor 2 Subunit Gamma	Protein Coding	1684.52	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	23063529 28055140 27333055
2	MEHMO	Mental Retardation, Epileptic Seizures, Hypogonadism And -Genitalism, Microcephaly And Obesity Syndrome	Genetic Locus	7.28	GeneCards inferred via : Gene name (show sections)
3	EIF2B5	Eukaryotic Translation Initiation Factor 2B Subunit Epsilon	Protein Coding	6.53	DISEASES inferred ¹⁵
4	TMEM52	Transmembrane Protein 52	Protein Coding	6.36	DISEASES inferred ¹⁵
5	EIF2S2	Eukaryotic Translation Initiation Factor 2 Subunit Beta	Protein Coding	6.26	DISEASES inferred ¹⁵
6	EIF2B3	Eukaryotic Translation Initiation Factor 2B Subunit Gamma	Protein Coding	6.21	DISEASES inferred ¹⁵
7	EIF2B4	Eukaryotic Translation Initiation Factor 2B Subunit Delta	Protein Coding	6.13	DISEASES inferred ¹⁵
8	SERAC1	Serine Active Site Containing 1	Protein Coding	6.07	DISEASES inferred ¹⁵
9	PPP1R15B	Protein Phosphatase 1 Regulatory Subunit 15B	Protein Coding	6.04	DISEASES inferred ¹⁵
10	EIF2B2	Eukaryotic Translation Initiation Factor 2B Subunit Beta	Protein Coding	6.02	DISEASES inferred ¹⁵
11	EIF2B1	Eukaryotic Translation Initiation Factor 2B Subunit Alpha	Protein Coding	5.88	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Mehmo Syndrome

Search GEO for disease gene expression data for Mehmo Syndrome.

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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:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Apoptotic Pathways in Synovial Fibroblasts ⁶³ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶³ Cellular Apoptosis Pathway ⁶³ DHA Signaling ⁶³ eIF2 Pathway ⁶³ ERK5 Signaling ⁶³ Glioma Invasiveness ⁶³ Mitochondrial Apoptosis ⁶³ Nuclear Receptor Activation by Vitamin-A ⁶³ p53 Mediated Apoptosis ⁶³ PPAR Pathway ⁶³ Rac1 Pathway ⁶³ Rap1 Pathway ⁶³ Telomerase Components in Cell Signaling ⁶³	13.48	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2
2	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.47	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2
3	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	13.45	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2
4	Viral mRNA Translation ⁶⁵ Show member pathways Cap-dependent Translation Initiation ⁶⁵ CFTR translational fidelity (class I mutations) ²² Cysteine formation from homocysteine ⁶⁵ Cytoplasmic Ribosomal Proteins ¹ Eukaryotic Translation Elongation ⁶⁵ Eukaryotic Translation Initiation ⁶⁵ Eukaryotic Translation Termination ⁶⁵ Formation of a pool of free 40S subunits ⁶⁵ glutathione redox reactions II ¹ GTP hydrolysis and joining of the 60S ribosomal subunit ⁶⁵ L13a-mediated translational silencing of Ceruloplasmin expression ⁶⁵ Metabolism of amino acids and derivatives ⁶⁵ Metabolism of ingested H2SeO4 and H2SeO3 into H2Se ⁶⁵ Metabolism of ingested MeSeO2H into MeSeH ⁶⁵ Metabolism of ingested SeMet, Sec, MeSec into H2Se ⁶⁵ Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ⁶⁵ Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) ⁶⁵ Nonsense-Mediated Decay (NMD) ⁶⁵ Peptide chain elongation ⁶⁵ Ribosome ³⁶ Selenoamino acid metabolism ⁶⁵ Selenocysteine synthesis ⁶⁵ SRP-dependent cotranslational protein targeting to membrane ⁶⁵ sulfate activation for sulfonation ¹ Translation ⁶⁵	13.38	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2
5	Nanog in Mammalian ESC Pluripotency ⁶³ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶³ eNOS Signaling ⁶³ GSK3 Signaling ⁶³	12.85	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2
6	NFAT and Cardiac Hypertrophy ⁶³ Show member pathways IGF1R Signaling ⁶³ Signaling Involved in Cardiac Hypertrophy ⁶³	12.54	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
7	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁶ IRS activation ⁶⁵ Signal attenuation ⁶⁵ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.47	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2
8	Beta-Adrenergic Signaling ⁶³ Show member pathways CDK5 Pathway ⁶³ Erythropoietin Pathway ⁶³ Insulin Receptor Pathway ⁶³	12.46	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
9	Herpes simplex virus 1 infection ³⁶	12.41	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
10	RNA transport ³⁶	11.76	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2
11	Translation Factors ¹ Show member pathways Recycling of eIF2-GDP ⁶⁵	10.95	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2

Sources

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	9.02	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2	eukaryotic translation initiation factor 2 complex	GO:0005850	8.96	EIF2S3 EIF2S2

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	T cell receptor signaling pathway	GO:0050852	9.8	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2	translation	GO:0006412	9.8	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2
3	response to glucose	GO:0009749	9.77	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
4	response to peptide hormone	GO:0043434	9.72	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
5	myelination	GO:0042552	9.65	EIF2B5 EIF2B4 EIF2B2
6	ovarian follicle development	GO:0001541	9.63	EIF2B5 EIF2B4 EIF2B2
7	cellular metabolic process	GO:0044237	9.61	EIF2B4 EIF2B2 EIF2B1
8	response to heat	GO:0009408	9.55	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
9	hippocampus development	GO:0021766	9.52	EIF2B5 EIF2B3
10	regulation of translational initiation	GO:0006446	9.51	EIF2B2 EIF2B1
11	formation of translation preinitiation complex	GO:0001731	9.49	EIF2S3 EIF2S2
12	oligodendrocyte development	GO:0014003	9.35	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
13	translational initiation	GO:0006413	9.17	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	translation initiation factor binding	GO:0031369	9.43	EIF2S2 EIF2B5 EIF2B4
2	guanyl-nucleotide exchange factor activity	GO:0005085	9.35	EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3	translation factor activity, RNA binding	GO:0008135	9.33	EIF2S3 EIF2S2 EIF2B3
4	translation initiation factor activity	GO:0003743	9.17	EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3 EIF2B2

Sources

Sources for Mehmo Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Mehmo Syndrome (MEHMO)

Aliases & Classifications for Mehmo Syndrome

MalaCards integrated aliases for Mehmo Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mehmo Syndrome

Related Diseases for Mehmo Syndrome

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

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

Symptoms & Phenotypes for Mehmo Syndrome

Human phenotypes related to Mehmo Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Mehmo Syndrome

Cochrane evidence based reviews: mehmo syndrome

Genetic Tests for Mehmo Syndrome

Genetic tests related to Mehmo Syndrome:

Anatomical Context for Mehmo Syndrome

MalaCards organs/tissues related to Mehmo Syndrome:

Publications for Mehmo Syndrome

Articles related to Mehmo Syndrome:

Genes for Mehmo Syndrome

Genes related to Mehmo Syndrome (1 elite genes):

Variations for Mehmo Syndrome

ClinVar genetic disease variations for Mehmo Syndrome:

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

Expression for Mehmo Syndrome

Pathways for Mehmo Syndrome

Pathways related to Mehmo Syndrome according to KEGG:

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

GO Terms for Mehmo Syndrome

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

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

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

Sources for Mehmo Syndrome