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GENATLAS PHENOTYPE
last update : 09-07-2013
Symbol CPHD3
Location 9q34.3
Name combined pituitary hormone deficiency 3
Other name(s)
  • pituitary dwarfism III
  • Hanhart dwarfism
  • panhypopituitarism
    • Corresponding gene LHX3
    Main clinical features
  • combined with rigid cervical spine with limited neck rotation, panhypopituitarism, ateliotic dwarfism with hypogonadism
  • MRI revealed an apparently structurally normal cervical spine and a postcontrast hypointense lesion in the anterior pituitary
    • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function leading to impaired activation of pituitary hormone genes and pituitary transcription factor genes
    frameshift   abnormal protein/loss of function leading to production of short, inactive LHX3 proteins
    Remark(s) association of sensorineural hearing loss in association with rare mutation of LHX3
    Genotype/Phenotype correlations
  • LHX3 gene deletion suffered from perinatal signs of hypopituitarism, which were initially interpreted as neonatal sepsis, a condition that could easily have ended fatally