OnlineIMD

Hereditary paraganglioma-pheochromocytoma syndrome

  • Type
    Phenotype
  • External link(s)
    • Orphanet
  • Associated genes
    Gene list
    • SDHB Succinate dehydrogenase subunit B deficiency
    • SDHD Succinate dehydrogenase subunit D deficiency
    • SDHC SDHC-related hereditary paraganglioma-pheochromocytoma syndrome
    • SDHA Succinate dehydrogenase subunit A deficiency
    • SDHAF2 SDHF2-related hereditary paraganglioma-pheochromocytoma syndrome
    • DLST DLST-related paragangliomas
    • MAX
    • TMEM127
    • SLC25A11 Mitochondrial oxoglutarate/malate carrier deficiency
    • FH Fumarase deficiency
    • MDH2 Mitochondrial malate dehydrogenase deficiency
  • Disease group(s)
    • 5.2        Disorders of the Krebs cycle
  • Child entries
    • Carney-Stratakis syndrome
    • Gastrointestinal stromal tumor
    • Pheochromocytoma/secreting paraganglioma, sporadic