KEGG   DISEASE: Paraganglioma
Entry
H02538                      Disease                                
Name
Paraganglioma
  Subgroup
Malignant paraganglioma [DS:H01510]
Description
Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly influenced by genetics.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of endocrine organs
   H02538  Paraganglioma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    2E92  Benign neoplasm of digestive organs
     H02538  Paraganglioma
Pathway
hsa05208 Chemical carcinogenesis   
Related
pathway
hsa00020 Citrate cycle (TCA cycle)   
hsa00190 Oxidative phosphorylation   
Gene
(PGL1) SDHD [HSA:6392] [KO:K00237]
(PGL2) SDHAF2 [HSA:54949] [KO:K18168]
(PGL3) SDHC [HSA:6391] [KO:K00236]
(PGL4) SDHB [HSA:6390] [KO:K00235]
(PGL5) SDHA [HSA:6389] [KO:K00234]
(PGL6) SLC25A11 [HSA:8402] [KO:K15104]
(PGL7) DLST [HSA:1743] [KO:K00658]
Other DBs
ICD-11: 2E92.2
ICD-10: D44.7
MeSH: D010235
OMIM: 168000 601650 605373 115310 614165 618464 618475
Reference
  Authors
Favier J, Amar L, Gimenez-Roqueplo AP
  Title
Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.
  Journal
Nat Rev Endocrinol 11:101-11 (2015)
DOI:10.1038/nrendo.2014.188
Reference
  Authors
Favier J, Briere JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP
  Title
Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.
  Journal
Horm Res 63:171-9 (2005)
DOI:10.1159/000084685
Reference
  Authors
Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J
  Title
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
  Journal
Science 325:1139-42 (2009)
DOI:10.1126/science.1175689
Reference
  Authors
Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouze E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J
  Title
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
  Journal
Cancer Res 78:1914-1922 (2018)
DOI:10.1158/0008-5472.CAN-17-2463
Reference
  Authors
Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Curras-Freixes M, Leton R, Torres-Perez R, Richter S, Pita G, Herraez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, Garcia-Uriarte O, Galvez MA, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodriguez-Antona C, Llorca O, Smolen GA, Robledo M, Cascon A
  Title
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
  Journal
Am J Hum Genet 104:651-664 (2019)
DOI:10.1016/j.ajhg.2019.02.017
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