Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 19/07/2006
Symbol IH
Location 11p15.5
Name isolated body asymmetry
Other name(s)
  • isolated hemihyperplasia
  • isolated hemihypoplasia
    • Corresponding gene IGF2 , H19 , KCNQ1OT1
    Other symbol(s) IH
    Main clinical features
  • assymetric overgrowth/growth restriction of one or more regions of the body
  • isolated or associated to BWS or SRS, respectively
  • hemihyperplasia is associated with an increased tumor risk
    • Genetic determination epigenetic
    Related entries BWS, UPD11, SRS11
    Function/system disorder other
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    imprinting defect     hyper- or hypomethylation of the H19/IGF2 ICR1 imprinting center at 11p15
    Remark(s)
    Genotype/Phenotype correlations
  • hypermethylation of ICR1 results in hemihyperplasia
  • the opposite genetic alteration, hypomethylation of the ICR1 imprinting center results in hemihypoplasia. It may be difficult to clinically distinguish between hemihypo- and hemihyperplasia.