familial nonchromaffin paraganglioma 1 (PGL1)

Epidemiology: rare Pathology: - mostly benign, highly vascular, slowly growing tumors in the head & neck - associated_neoplasm[s] - paraganglioma hemodectoma carotid body tumor glomus jugular tumor - carotid body is the most common site of the tumors (see carotid body tumor) Genetics: - autosomal dominant non-chromaffin paraganglioma type 1 associated with defects in SDHD (penetrance is incomplete when transmitted through fathers; not transmitted maternally)

Properties

ASSOCIATED-NEOPLASM[S]: paraganglioma CHEMODECTOMA carotid body tumor GLOMUS-JUGULAR-TUMOR

Database Correlations

OMIM correlations MORBIDMAP 602690

References

Baysal et al. Science 287:848-51, 2000