Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 09-01-2009
Symbol EKNS
Location 3p21.3
Name Eiken skeletal dysplasia
Other name(s) bone modeling defect of hands and feet
Corresponding gene PTH1R
Main clinical features
  • characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands, and feet, combined with a strikingly abnormal modeling of the bones
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name parathyroid hormone receptor 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    Remark(s)