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GENATLAS PHENOTYPE
last update : 07-05-2019
Symbol PGL3
Location 1q23.3
HGNC id 8902
Name hereditary paraganglioma 3
Other name(s)
  • nonchromaffin, chemodectoma
  • glomus tumors, familial, 3
    • Corresponding gene SDHC
    Main clinical features
  • characterized by the development of the benign vascularized tumors in the head and neck with the carotid body as the major tumor site
  • rare tumours that derive from minute, diffuse paraganglionic tissues which are located internally and centrally around the major arteries, nerves, within organs and distributed from the skull base to the pelvic floor (Baysal 2008)
    • Genetic determination autosomal dominant
    Prevalence 10p 100 of all paraganglioma
    Function/system disorder endocrinology
    neoplasia
    Type disease
    Gene product
    Name C subunit of the succinate dehydrogenase mitochondrial complex II gene ; tumor suppressor gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types      
    Remark(s)