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GENATLAS PHENOTYPE
last update : 06-06-2017
Symbol OGID1
Location 6p22.2
Name overgrowth and intellectual disability 1
Other name(s) Rahman syndrome
Corresponding gene HIST1H1E
Other symbol(s) RMNS
Main clinical features
  • in childhood full cheeks, high hairline, and telecanthus
  • neurodevelopmental disorder characterized by accelerated aging
  • motor and speech delay, hypotonia; high anterior hairline, hypertelorism and
    • prominent forehead , downslanted palpebral fissures
  • mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference
  • brain MRI revealed aspecific abnormalities, including mild inferior vermian hypoplasia, delayed myelination, partial agenesis of the corpus callosum, and mild to moderately enlarged third and lateral ventricles
  • phenotypic features suggestive of premature aging
    • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease
    Remark(s)
  • HIST1H1E mutations, restricted in position and type, cause human overgrowth (PMID: 28475857))
  • mutations result in stable proteins that reside in the nucleus, bind to chromatin, disrupt proper compaction of DNA, and are associated with a specific methylation pattern (PMID: 31447100))
  • aberrant function of the HIST1H1E mutants might promote accelerated senescence (PMID: 31447100))