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GENATLAS PHENOTYPE
last update : 24-01-2013
Symbol CPHD2
Location 5q35.3
Name pituitary hormone deficiency, combined, 2
Corresponding gene PROP1
Main clinical features
  • associated with frequent increased body weight, hypogonadotropic hypogonadism, limited elbow extensibility and blue sclera, normal hand and foot length, persistence of extremely low IGF1in adulthood and combined deficiency of TSH, GH and PRL, and progressively including adrenal insufficiency as a feature of this condition, which has important clinical relevance in childhood and adolescence
    • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name prophet of PIT1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown disruption of DNA binding or of nuclear localization
    Remark(s)