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

MEHMO MCID: MHM001 MIFTS: 31	Mehmo Syndrome (MEHMO) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations 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 ⁵⁷ ¹² ⁵⁹ ⁷⁵ ³⁷ 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:
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: ³⁴

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: ⁵⁹

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 300148

Disease Ontology ¹² DOID:0060801

MeSH ⁴⁴ C537451 D038901

Orphanet ⁵⁹ ORPHA85282

UMLS via Orphanet ⁷⁴ C1846278 C2931496

MESH via Orphanet ⁴⁵ C537451

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C1846278

KEGG ³⁷ H02195

SNOMED-CT via HPO ⁶⁹ 48723006 204878001 34911001 more

UMLS ⁷³ 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 microcephaly and intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. 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 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

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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	Top Affiliating Genes
1	microcephaly	31.9	EIF2S3 MEHMO
2	intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity	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:

Sources

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 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

Human phenotypes related to Mehmo Syndrome:

⁵⁹ ³² (show top 50) (show all 57)

#	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	talipes equinovarus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001762
17	agitation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000713
18	downturned corners of mouth ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002714
19	round face ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000311
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	intellectual disability ³²			HP:0001249
25	spasticity ³²	very rare (1%)		HP:0001257
26	global developmental delay ³²	very rare (1%)		HP:0001263
27	delayed speech and language development ³²			HP:0000750
28	delayed puberty ³²			HP:0000823
29	hypoglycemia ³²			HP:0001943
30	cleft palate ³²			HP:0000175
31	long philtrum ³²			HP:0000343
32	strabismus ³²			HP:0000486
33	myopia ³²			HP:0000545
34	gait ataxia ³²			HP:0002066
35	babinski sign ³²			HP:0003487
36	inability to walk ³²			HP:0002540
37	ventriculomegaly ³²			HP:0002119
38	male hypogonadism ³²	very rare (1%)		HP:0000026
39	aggressive behavior ³²			HP:0000718
40	open mouth ³²			HP:0000194
41	broad nasal tip ³²			HP:0000455
42	long face ³²			HP:0000276
43	hypoplasia of penis ⁵⁹		Very frequent (99-80%)
44	difficulty walking ³²			HP:0002355
45	generalized hypotonia ³²			HP:0001290
46	spastic tetraparesis ³²			HP:0001285
47	hypoplasia of the corpus callosum ³²			HP:0002079
48	depressed nasal tip ³²			HP:0000437
49	drooling ³²			HP:0002307
50	small for gestational age ³²	very rare (1%)		HP:0001518

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

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Anatomical Context for Mehmo Syndrome

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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 )	Stanik J...Gasperikova D	2018
2	MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. ( 30517694 )	Young-Baird SK...Dever TE	2018
3	Overstressed response to EIF2S3 variants in MEHMO syndrome. ( 28301896 )	Michaud JL	2017

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Genes for Mehmo Syndrome

Genes related to Mehmo Syndrome (2 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	1195.69	Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	27333055 23063529 28055140
2	MEHMO	Mental Retardation, Epileptic Seizures, Hypogonadism And -Genitalism, Microcephaly And Obesity Syndrome	Genetic Locus	57.46	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)

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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

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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:

³⁷

#	Name	Kegg Source Accession
1	RNA transport	hsa03013

Sources

GO Terms for Mehmo Syndrome

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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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Mehmo Syndrome:

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

Publications for Mehmo Syndrome

Articles related to Mehmo Syndrome:

Genes for Mehmo Syndrome

Genes related to Mehmo Syndrome (2 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

Sources for Mehmo Syndrome