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

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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:

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: ³²

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 ¹¹ DOID:0060801

OMIM® ⁵⁷ 300148

OMIM Phenotypic Series ⁵⁷ PS309510

MeSH ⁴³ C537451 D038901

SNOMED-CT ⁶⁸ 722037004

MESH via Orphanet ⁴⁴ C537451

ICD10 via Orphanet ³² Q87.8

UMLS via Orphanet ⁷² C1846278 C2931496

Orphanet ⁵⁸ ORPHA85282

MedGen ⁴⁰ C1846278

UMLS ⁷¹ C1846278

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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.

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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 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:

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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

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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 ²⁸	EIF2S3

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Anatomical Context for Mehmo Syndrome

Organs/tissues related to Mehmo Syndrome:

MalaCards : Pituitary, Thyroid, Brain, Pancreas

ODiseA: Brain

Sources

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	Skopkova M...Kalscheuer VM	28055140	2017
2	Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. ⁵⁷ ⁵	Moortgat S...Maystadt I	27333055	2016
3	eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. ⁵⁷ ⁵	Borck G...Basel-Vanagaite L	23063529	2012
4	Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. ⁶² ⁵⁷	Gregory LC...Dattani MT	30878599	2019
5	MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. ⁶² ⁵⁷	Leshinsky-Silver E...Sagie TL	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	DeLozier-Blanchet CD...Bottani A	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	Steinmuller R...Muller U	9781023	1998
8	[Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?]. ⁵⁷	Delozier-Blanchet CD...Engel E	2635712	1989
9	Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome. ⁶²	Ygberg S...Lindstrand A	35765291	2022
10	The role of eIF2 phosphorylation in cell and organismal physiology: new roles for well-known actors. ⁶²	Wang X...Proud CG	35604373	2022
11	mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome. ⁶²	Ivanova N...Skoblov M	34999262	2022
12	Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis. ⁶²	Mori M...Shibata M	33714664	2021
13	Immunologic phenotype of a child with the MEHMO syndrome. ⁶²	Trochanova I...Ciznar P	32901502	2020
14	Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. ⁶²	Kotzaeridou U...Kalscheuer VM	32799315	2020
15	Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB. ⁶²	Young-Baird SK...Dever TE	31836389	2020
16	MEHMO syndrome and the link between brain, pituitary and pancreas. ⁶²	Maghnie M...Barbetti F	30954456	2019
17	MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. ⁶²	Young-Baird SK...Dever TE	30517694	2019
18	Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. ⁶²	Stanik J...Gasperikova D	29303605	2018
19	Overstressed response to EIF2S3 variants in MEHMO syndrome. ⁶²	Michaud JL	28301896	2017

Sources

Genes for Mehmo Syndrome

Genes related to Mehmo Syndrome (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EIF2S3	Eukaryotic Translation Initiation Factor 2 Subunit Gamma	Protein Coding	1700.11	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	23063529 27333055 28055140
2	EIF2S2	Eukaryotic Translation Initiation Factor 2 Subunit Beta	Protein Coding	6.18	DISEASES inferred ¹⁴
3	IER3IP1	Immediate Early Response 3 Interacting Protein 1	Protein Coding	5.98	DISEASES inferred ¹⁴
4	MAP7D2	MAP7 Domain Containing 2	Protein Coding	5.74	DISEASES inferred ¹⁴
5	EIF2B5	Eukaryotic Translation Initiation Factor 2B Subunit Epsilon	Protein Coding	5.54	DISEASES inferred ¹⁴
6	PPP1R15B	Protein Phosphatase 1 Regulatory Subunit 15B	Protein Coding	5.49	DISEASES inferred ¹⁴
7	DNAJC3	DnaJ Heat Shock Protein Family (Hsp40) Member C3	Protein Coding	5.43	DISEASES inferred ¹⁴
8	EIF2S1	Eukaryotic Translation Initiation Factor 2 Subunit Alpha	Protein Coding	5.19	DISEASES inferred ¹⁴
9	EIF2B3	Eukaryotic Translation Initiation Factor 2B Subunit Gamma	Protein Coding	5.14	DISEASES inferred ¹⁴
10	MARS1	Methionyl-TRNA Synthetase 1	Protein Coding	5.12	DISEASES inferred ¹⁴
11	FOXL2NB	FOXL2 Neighbor	Protein Coding	5.09	DISEASES inferred ¹⁴
12	EIF2B4	Eukaryotic Translation Initiation Factor 2B Subunit Delta	Protein Coding	5.08	DISEASES inferred ¹⁴
13	SERAC1	Serine Active Site Containing 1	Protein Coding	5.03	DISEASES inferred ¹⁴
14	EIF2B2	Eukaryotic Translation Initiation Factor 2B Subunit Beta	Protein Coding	5.02	DISEASES inferred ¹⁴
15	SULT1A4	Sulfotransferase Family 1A Member 4	Protein Coding	4.98	DISEASES inferred ¹⁴
16	EIF1	Eukaryotic Translation Initiation Factor 1	Protein Coding	4.98	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Mehmo Syndrome

Search GEO for disease gene expression data for Mehmo Syndrome.

Sources

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	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	13.64	MARS1 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
2	Apoptotic Pathways in Synovial Fibroblasts ⁶⁴ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶⁴ Cellular Apoptosis Pathway ⁶⁴ DHA Signaling ⁶⁴ eIF2 Pathway ⁶⁴ ERK5 Signaling ⁶⁴ Glioma Invasiveness ⁶⁴ Mitochondrial Apoptosis ⁶⁴ Nuclear Receptor Activation by Vitamin-A ⁶⁴ p53 Mediated Apoptosis ⁶⁴ PPAR Pathway ⁶⁴ Rac1 Pathway ⁶⁴ Rap1 Pathway ⁶⁴ Telomerase Components in Cell Signaling ⁶⁴	13.5	EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
3	Peptide chain elongation ⁶⁶ Show member pathways Amino acids regulate mTORC1 ⁶⁶ Cap-dependent Translation Initiation ⁶⁶ Cellular response to starvation ⁶⁶ CFTR translational fidelity (class I mutations) ²² Cytoplasmic ribosomal proteins ⁷⁴ Defective PAPSS2 causes SEMD-PA ⁶⁶ Eukaryotic Translation Elongation ⁶⁶ Eukaryotic Translation Initiation ⁶⁶ Eukaryotic Translation Termination ⁶⁶ Formation of a pool of free 40S subunits ⁶⁶ GTP hydrolysis and joining of the 60S ribosomal subunit ⁶⁶ L13a-mediated translational silencing of Ceruloplasmin expression ⁶⁶ Metabolism of ingested H2SeO4 and H2SeO3 into H2Se ⁶⁶ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ Metabolism of ingested SeMet, Sec, MeSec into H2Se ⁶⁶ Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ⁶⁶ Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) ⁶⁶ Nonsense-Mediated Decay (NMD) ⁶⁶ Response of EIF2AK4 (GCN2) to amino acid deficiency ⁶⁶ Selenoamino acid metabolism ⁶⁶ Selenocysteine synthesis ⁶⁶ SRP-dependent cotranslational protein targeting to membrane ⁶⁶ sulfate activation for sulfonation ⁶¹ Translation ⁶⁶ Viral mRNA Translation ⁶⁶	13.4	DNAJC3 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1
4	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	12.92	EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
5	Beta-Adrenergic Signaling ⁶⁴ Show member pathways CDK5 Pathway ⁶⁴ Erythropoietin Pathway ⁶⁴ Insulin Pathway ⁷⁰ Insulin Receptor Pathway ⁶⁴	12.57	EIF2B5 EIF2B4 EIF2B3 EIF2B2
6	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.53	EIF2B5 EIF2B4 EIF2B3 EIF2B2
7	Translation Insulin regulation of translation ²² Show member pathways Butyrate-induced histone acetylation ⁷⁴ Cell adhesion PLAU signaling ²² Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² Overview of perturbations to host-cell autophagy, induced by distinct proteins of SARS-CoV-2 ⁷⁴ Regulation of lipid metabolism Insulin signaling-generic cascades ²² Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation inhibitors in chronically activated PDGFRA cells ⁷⁴	12.15	EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
8	Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S ⁶⁶ Show member pathways Formation of the ternary complex, and subsequently, the 43S complex ⁶⁶ Ribosomal scanning and start codon recognition ⁶⁶ Translation initiation complex formation ⁶⁶	12.06	EIF2S3 EIF2S2 EIF2S1
9	Unfolded Protein Response (UPR) ⁶⁶ Show member pathways ATF6 (ATF6-alpha) activates chaperone genes ⁶⁶ ATF6 (ATF6-alpha) activates chaperones ⁶⁶ CREB3 factors activate genes ⁶⁶ IRE1alpha activates chaperones ⁶⁶ XBP1(S) activates chaperone genes ⁶⁶	12.01	SULT1A4 EIF2S3 EIF2S2 EIF2S1 DNAJC3
10	Translational Control ³ Show member pathways exRNA mechanism of action and biogenesis ⁷⁴	12	EIF2S1 EIF2B5 EIF1 DNAJC3
11	PERK regulates gene expression ⁶⁶ Show member pathways ATF4 activates genes in response to endoplasmic reticulum stress ⁶⁶	11.38	EIF2S3 EIF2S2 EIF2S1
12	Translation factors ⁷⁴ Show member pathways nsp1 from SARS-CoV-2 inhibits translation initiation in the host cell ⁷⁴ Recycling of eIF2:GDP ⁶⁶	11.09	EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
13	Response of EIF2AK1 (HRI) to heme deficiency ⁶⁶	10.51	EIF2S3 EIF2S2 EIF2S1

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 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

Sources for Mehmo Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MEHMO MCID: MHM001 MIFTS: 49	Mehmo Syndrome (MEHMO) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Mehmo Syndrome (MEHMO)

Aliases & Classifications for Mehmo Syndrome

MalaCards integrated aliases for Mehmo Syndrome:

Characteristics:

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OMIM®:

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Summaries for Mehmo Syndrome

Related Diseases for Mehmo Syndrome

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

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Symptoms & Phenotypes for Mehmo Syndrome

Human phenotypes related to Mehmo Syndrome:

Symptoms via clinical synopsis from OMIM®:

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Drugs & Therapeutics for Mehmo Syndrome

Cochrane evidence based reviews: mehmo syndrome

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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 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