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MEHMO
MCID: MHM001
MIFTS: 47
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Mehmo Syndrome (MEHMO)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mehmo Syndrome:
Characteristics:Orphanet epidemiological data:58
mehmo syndrome
Inheritance: Mitochondrial inheritance,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile; OMIM:56
Miscellaneous:
variable severity obligate female carriers are unaffected three unrelated families have been reported (last curated october 2016)
Inheritance:
x-linked recessive HPO:31
mehmo syndrome:
Onset and clinical course variable expressivity Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Neuronal diseases Endocrine diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis External Ids:
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85282 Definition MEHMO 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 : Mehmo Syndrome, also known as mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, is related to visual epilepsy and seizure disorder. An important gene associated with Mehmo Syndrome is EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma), and among its related pathways/superpathways are RNA transport and Metabolism of proteins. Affiliated tissues include brain, pancreas and pituitary, and related phenotypes are obesity and eeg abnormality 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. KEGG : 36 MEHMO syndrome is a rare X-linked syndrome characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It has been reported that MEHMO syndrome is associated with mutations in the X chromosome gene EIF2S3. EIF2S3 encodes the subunit of the eukaryotic translation initiation factor 2 (eIF2). UniProtKB/Swiss-Prot : 73 MEHMO syndrome: An X-linked recessive mental retardation syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. |
Diseases related to Mehmo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of the top 20 diseases related to Mehmo Syndrome:
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Human phenotypes related to Mehmo Syndrome:58 31 (show top 50) (show all 59)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300148GenomeRNAi Phenotypes related to Mehmo Syndrome according to GeneCards Suite gene sharing:26 (show all 45)
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Cochrane evidence based reviews: mehmo syndrome |
MalaCards organs/tissues related to Mehmo Syndrome:40
Brain,
Pancreas,
Pituitary
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Articles related to Mehmo Syndrome:(show all 13)
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Genes related to Mehmo Syndrome (1 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mehmo Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Mehmo Syndrome:73
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Search
GEO
for disease gene expression data for Mehmo Syndrome.
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Pathways related to Mehmo Syndrome according to KEGG:36
Pathways related to Mehmo Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Mehmo Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Mehmo Syndrome according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Mehmo Syndrome according to GeneCards Suite gene sharing:
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