Details of Disease

General Information of Disease (ID: DISPH301)

• Disease Name: MEHMO syndrome
• Synonyms: X-linked MEHMO syndrome; mental retardation, X-linked, syndromic 25; mental retardation, X-linked, syndromic 20; syndromic X-linked mental retardation 20; intellectual disability, X-linked, syndromic, Borck type; MRXSBRK; intellectual disability, X-linked, syndromic, Borck type; MRXS20; MRXS25; syndromic X-linked intellectual disability 25; syndromic X-linked mental retardation 25; MEHMO syndrome, X-linked recessive; mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MEHMO syndrome; intellectual disability, X-linked, syndromic 25; intellectual disability, X-linked, syndromic 20; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome; MRXSBRK; MEHMO; mental retardation, X-linked, syndromic, Borck type; intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; syndromic X-linked intellectual disability 20
• Definition: MEHMO syndrome is characterized 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 localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISPH301: MEHMO syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010258
  MESH ID: C537451
  UMLS CUI: C1846278
  OMIM ID: 300148
  MedGen ID: 375855
  Orphanet ID: 85282
  SNOMED CT ID: 722037004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF2S1	OTM0GDTP	Strong	Genetic Variation	[1]
EIF2S2	OTXF0B09	Strong	Genetic Variation	[1]
EIF2S3	OTARRES9	Definitive	Autosomal dominant	[2]

References

• [1] Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.Mol Cell. 2020 Feb 20;77(4):875-886.e7. doi: 10.1016/j.molcel.2019.11.008. Epub 2019 Dec 10.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.