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

MEHMO MCID: MHM001 MIFTS: 35	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 ⁵⁸ ¹² ⁶⁰ ⁷⁶ ³⁸ ³⁰ ¹³ 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

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: ⁶⁰

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060801

OMIM ⁵⁸ 300148

KEGG ³⁸ H02195

MeSH ⁴⁵ C537451 D038901

MESH via Orphanet ⁴⁶ C537451

ICD10 via Orphanet ³⁵ Q87.8

UMLS via Orphanet ⁷⁵ C1846278 C2931496

Orphanet ⁶⁰ ORPHA85282

MedGen ⁴³ C1846278

SNOMED-CT via HPO ⁷⁰ 123526007 128602000 128613002 more

UMLS ⁷⁴ C1846278

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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. Affiliated tissues include brain, pituitary and pancreas, and 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

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Related Diseases for Mehmo Syndrome

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

#	Related Disease	Score
1	intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity	11.6
2	microcephaly	11.6
3	cone-rod dystrophy and hearing loss 2	11.1
4	hypogonadism	10.2
5	hypogonadotropism	10.2
6	alacrima, achalasia, and mental retardation syndrome	10.1
7	hypopituitarism	10.0
8	hypoglycemia	10.0

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

Sources

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	hypoplasia of the corpus callosum ³³			HP:0002079
50	spastic tetraparesis ³³			HP:0001285

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

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 ³⁰	EIF2S3

Sources

Anatomical Context for Mehmo Syndrome

MalaCards organs/tissues related to Mehmo Syndrome:

⁴²

Brain, Pituitary, Pancreas

Sources

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 )	Young-Baird SK...Dever TE	2019
2	MEHMO syndrome and the link between brain, pituitary and pancreas. ( 30954456 )	Maghnie M...Barbetti F	2019
3	Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. ( 29303605 )	Stanik J...Gasperikova D	2018
4	Overstressed response to EIF2S3 variants in MEHMO syndrome. ( 28301896 )	Michaud JL	2017
5	EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. ( 28055140 )	Skopkova M...Kalscheuer VM	2017
6	Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. ( 27333055 )	Moortgat S...Maystadt I	2016
7	eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. ( 23063529 )	Borck G...Basel-Vanagaite L	2012

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Genes for Mehmo Syndrome

Genes related to Mehmo Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EIF2S3	Eukaryotic Translation Initiation Factor 2 Subunit Gamma	Protein Coding	1695.82	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	23063529 27333055 28055140
2	ATF4	Activating Transcription Factor 4	Protein Coding	14.81	DISEASES inferred ¹⁵
3	MEHMO	Mental Retardation, Epileptic Seizures, Hypogonadism And -Genitalism, Microcephaly And Obesity Syndrome	Genetic Locus	7.46	GeneCards inferred via : Gene name (show sections)
4	MYRF	Myelin Regulatory Factor	Protein Coding	5.79	DISEASES inferred ¹⁵
5	GTPBP4	GTP Binding Protein 4	Protein Coding	5.54	DISEASES inferred ¹⁵

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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

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:

³⁸

#	Name	Kegg Source Accession
1	RNA transport	hsa03013

Sources

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

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

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

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

ClinVar genetic disease variations for Mehmo Syndrome:

Expression for Mehmo Syndrome

Pathways for Mehmo Syndrome

Pathways related to Mehmo Syndrome according to KEGG:

GO Terms for Mehmo Syndrome

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

Sources for Mehmo Syndrome