Medical Knowledge Cockpit paragangliomas

• Citrate cycle (TCA cycle)
  Homo sapiens (human) 4 genes

  ---

SDHA

Somatic tumors

GIST, paraganglioma

Tumor types germline

paraganglioma

Cancer Syndrom

paragangliomas-5 (PGL5)

Translocation partner

Name

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

Chromosome banding

5p15

Cancer molecular gen.

Rec

Mutation type

Mis, N

Other syndrome disease

SDHD

• A role for mitochondrial enzymes in inherited neoplasia and beyond
• Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip
• Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management

SDHAF2

• Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism

SDHC

• Integration of cardiac proteome biology and medicine by a specialized knowledgebase

SDHB

• Hypoxia-inducible C-to-U coding RNA editing downregulates SDHB in monocytes

SDHA

• Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression
• Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II