MCID: INT273
MIFTS: 10

Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity

Categories: Rare diseases, Neuronal diseases, Metabolic diseases, Mental diseases

Aliases & Classifications for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

MalaCards integrated aliases for Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity:

Name: Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 53
Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 73
X-Linked Mehmo Syndrome 53
Mehmo Syndrome 53
Mehmo 53

Classifications:



External Ids:

UMLS 73 C1846278

Summaries for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85282Disease definitionMEHMO 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 : Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity, also known as mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, is related to mehmo syndrome. An important gene associated with Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity is EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma).

Related Diseases for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Diseases related to Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mehmo syndrome 11.4

Symptoms & Phenotypes for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Drugs & Therapeutics for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity

Genetic Tests for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Anatomical Context for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Publications for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Articles related to Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity:

# Title Authors Year
1
Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. ( 29303605 )
2018

Variations for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Expression for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Search GEO for disease gene expression data for Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity.

Pathways for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

GO Terms for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

Sources for Intellectual Disability, Epileptic Seizures, Hypogonadism and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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