KEGG DISEASE: Paraganglioma

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

Neoplasm

Brite

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

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

PMID:25385035

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

PMID:15795514

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

PMID:19628817

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

PMID:29431636

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

PMID:30929736

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

LinkDB

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