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

MCID: MHM001 MIFTS: 28	Mehmo Syndrome Categories: Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases, Mental diseases, Metabolic diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Download 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 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:

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: ³³ 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

ICD10 ³³ Q87.8

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

UMLS ⁷³ C2931496 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 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

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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	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

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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

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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

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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	1211.68	Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	27333055 23063529 28055140
2	MEHMO	Mental Retardation, Epileptic Seizures, Hypogonadism And -Genitalism, Microcephaly And Obesity Syndrome	Genetic Locus	57.54	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

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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