KEGG DISEASE: MEHMO syndrome

KEGG

DISEASE: MEHMO syndrome

Entry

H02195                      Disease

Name

MEHMO syndrome

Supergrp

X-linked syndromic intellectual developmental disorder [DS:H00658]

Description

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).

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD29  Syndromes with obesity as a major feature
    H02195  MEHMO syndrome

Pathway

Nucleocytoplasmic transport

Gene

EIF2S3 [HSA:1968] [KO:K03242]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Leshinsky-Silver E, Zinger A, Bibi CN, Barash V, Sadeh M, Lev D, Sagie TL

Title

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.

Journal

Eur J Hum Genet 10:226-30 (2002)
DOI:10.1038/sj.ejhg.5200791

Reference

Authors

Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Muller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM

Title

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Journal

Hum Mutat 38:409-425 (2017)
DOI:10.1002/humu.23170

LinkDB

» Japanese version

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