MCID: PRG013
MIFTS: 49

Paraganglioma malady

Summaries for Paraganglioma

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 A paraganglioma is rare neuroendocrine neoplasm that may develop at various body sites (including the... more...

MalaCards: Paraganglioma is related to pheochromocytoma and hereditary paraganglioma-pheochromocytoma syndromes. An important gene associated with Paraganglioma is SDHAF2 (succinate dehydrogenase complex assembly factor 2), and among its related pathways are Glycolysis and gluconeogenesis (short map) and Citric acid cycle (TCA cycle). The compounds UBIQUINONE-1 and 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol have been mentioned in the context of this disorder. Affiliated tissues include whole blood, lymph node and brain, and related mouse phenotype endocrine/exocrine gland.

Aliases & Classifications for Paraganglioma

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH
See all sources

Aliases & Descriptions:

paraganglioma 8 10 45 61


External Ids:

Disease Ontology8 DOID:0050773
MeSH35 D010235

Related Diseases for Paraganglioma

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the paragangliomas 3 family:

paraganglioma paragangliomas 1
paragangliomas 2 paragangliomas 4
nonsyndromic paraganglioma paragangliomas 5
paragangliomas 1, with or without deafness

Diseases related to Paraganglioma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 199)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma31.4VHL, RET, SDHD, SDHB
2hereditary paraganglioma-pheochromocytoma syndromes31.0SDHC, SDHB, SDHAF2, SDHD
3phaeochromocytoma30.9CHGA, RET, SDHD, SDHB, SDHC
4carotid body tumor30.8SDHC, SDHB, SDHD
5carney triad30.6SDHC, SDHB, SDHD
6ganglioneuroma30.6ENO2, RET, CHGA, SYP, GAL, SCG2
7paragangliomas 130.5CHGA, RET, SDHB
8paraganglioma and gastric stromal sarcoma30.5SDHD, SDHB, SDHC
9gastrointestinal stromal tumor30.4S100B, ENO2, SDHB, SDHC, SDHA
10thyroid medullary carcinoma30.4VHL, MEN1, CHGA, CHGB, SSTR2, RET
11adenoma30.4VHL, SCG2, GAL, MEN1, SYP, CHGA
12multiple endocrine neoplasia30.3VHL, MEN1, CHGA, CHGB, RET, PNMT
13thyroid cancer30.2RET, CHGA
14papillary carcinoma30.2RET, SSTR2, CHGA, SYP
15somatostatinoma30.1SSTR2, CHGA
16neurofibromatosis30.0SDHC, SDHB, SDHD, RET, VHL
17neuroendocrine carcinoma30.0S100B, SCG2, MEN1, SYP, CHGA, ENO2
18ependymoma30.0S100B, MEN1, SYP, ENO2
19teratoma30.0ENO2
20von hippel-lindau disease29.7SDHC, SDHB, SDHD, TMEM127, PNMT, RET
21granular cell tumor29.7ENO2, SYP, S100B
22cushing's syndrome29.7MEN1, SYP, CHGA, RET
23merkel cell carcinoma29.7ENO2, CHGA, SYP
24adenocarcinoma29.7VHL, SCG2, GAL, MEN1, SYP, CHGA
25vipoma29.7CHGA, MEN1
26sporadic pheochromocytoma10.4
27nonsyndromic paraganglioma10.3
28n syndrome10.3
29paragangliomas 410.3
30paragangliomas 210.3
31paragangliomas 310.3
32paragangliomas 1, with or without deafness10.2
33gastric leiomyosarcoma10.2
34paragangliomas 510.2
35pulmonary function10.2
36glomus jugulare tumors10.1
37hypoxia10.1
38erythrocytosis10.1
39multiple paragangliomas associated with polycythemia10.1
40alveolar soft part sarcoma10.1
41sdhb-related paraganglioma and gastric stromal sarcoma10.1
42sdhd-related paraganglioma and gastric stromal sarcoma10.1
43sdhc-related paraganglioma and gastric stromal sarcoma10.1
44sdhb-related hereditary paraganglioma-pheochromocytoma syndrome10.1
45thyroid adenoma10.1
46acute pancreatitis10.0
47gastric leiomyoma10.0
48siderosis10.0
49epithelioid leiomyosarcoma10.0
50horner's syndrome10.0

Graphical network of the top 20 diseases related to Paraganglioma:



Diseases related to paraganglioma

Clinical Features for Paraganglioma

Drugs & Therapeutics for Paraganglioma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Paraganglioma

Drug clinical trials:

Search ClinicalTrials for Paraganglioma

Search NIH Clinical Center for Paraganglioma

Search CenterWatch for Paraganglioma

Genetic Tests for Paraganglioma

Anatomical Context for Paraganglioma

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Paraganglioma:

33
Whole blood, Lymph node, Brain, Cortex, Cerebellum, Spinal cord, Heart, Small intestine, Kidney, Liver, Lung, Pancreas, Thyroid, Adrenal gland, Breast, Ovary, Uterus, Prostate, Tonsil, B cells, Olfactory bulb, Atrioventricular node, Trachea, Appendix, Adrenal cortex, Pituitary

Animal Models for Paraganglioma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Paraganglioma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.4SDHD, RET, CHGB, CHGA, MEN1, GAL

Publications for Paraganglioma

Sources:
51PubMed
See all sources

Articles related to Paraganglioma:

(show top 50)    (show all 845)
idTitleAuthorsYear
1
Succinate-to-Fumarate Ratio as a New Metabolic Marker to Detect the Presence of SDHB/D-related Paraganglioma: Initial Experimental and Ex Vivo Findings. (24189137)
2014
2
Hypertension secondary to a periprostatic paraganglioma: case report and review of the literature. (24274233)
2013
3
Incidental paraganglioma of the urinary bladder in a 66-year-old woman. (23505281)
2013
4
Occult functioning vagal paraganglioma in the infrahyoid carotid sheath. (22627187)
2013
5
Combination chemotherapy with cyclophosphamide, vincristine, and dacarbazine in patients with malignant pheochromocytoma and paraganglioma. (23361939)
2013
6
Management of an incidentally discovered hypoglossal paraganglioma. (23461934)
2013
7
Malignant paraganglioma of the rectum: the first case report and a review of the literature. (24307812)
2013
8
Mediastinal paraganglioma between the great vessels in an 81-year-old woman. (23678220)
2013
9
Transglottic laryngeal paraganglioma: A rare location for this tumor. (24366713)
2013
10
Case 197: malignant paraganglioma manifesting with calvarial metastases. (23970511)
2013
11
Multitracer PET imaging of bone metastases from paraganglioma: peripheral halo of uptake on 18F-FLT PET mismatching with central uptake of 18F-FDOPA, 18F-fluorodopamine, and 18F-FDG. (23880966)
2013
12
Paraganglioma presenting as cholesterol granuloma of the petrous apex. (24057902)
2013
13
Gangliocytic paraganglioma of the duodenum: a rare entity. (23402095)
2012
14
Tracheal paraganglioma: an unusual neoplasm of the upper airway. (22541208)
2012
15
Two-dimensional speckle strain imaging: in the management of paraganglioma, acute junctional tachycardia, and myocardial dysfunction in a child. (22412245)
2012
16
Long-term postoperative follow-up in patients with apparently benign pheochromocytoma and paraganglioma. (22351478)
2012
17
Cardiac paraganglioma: diagnostic work up and review of the literature. (23008998)
2012
18
Bilateral paraganglioma. (23144338)
2012
19
Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden. (22270996)
2012
20
Orbital paraganglioma: gamma knife surgery as a therapeutic option. (22777449)
2012
21
External beam radiation therapy (EBRT) for patients with malignant pheochromocytoma and non-head and -neck paraganglioma: combination with 131I-MIBG. (22566196)
2012
22
Updated and new perspectives on diagnosis, prognosis, and therapy of malignant pheochromocytoma/paraganglioma. (22851969)
2012
23
An incidentally discovered asymptomatic para-aortic paraganglioma with Peutz-Jeghers syndrome. (23150026)
2012
24
Paraganglioma with intracranial metastasis: a case report and review of the literature. (22187335)
2012
25
Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers. (22323561)
2012
26
Necessity for long-term follow-up of patients with head and neck paraganglioma and mutation in the succinate dehydrogenase genes: an index case report and literature review. (22982783)
2012
27
Urinary bladder paraganglioma in childhood: a case report and review of the literature. (21385006)
2011
28
Paraganglioma with acute hyperamylasaemia masquerading as acute pancreatitis. (22159946)
2011
29
Expression of somatostatin receptors, dopamine Da88 receptors, noradrenaline transporters, and vesicular monoamine transporters in 52 pheochromocytomas and paragangliomas. (21335363)
2011
30
SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. (21224366)
2011
31
Paragangliomas and paraganglioma syndromes. (22558053)
2011
32
A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene. (21384277)
2011
33
Minireview: the busy road to pheochromocytomas and paragangliomas has a new member, TMEM127. (21447639)
2011
34
SDH-related pheochromocytoma and paraganglioma. (20833333)
2010
35
Laparoscopic resection of retrocaval paraganglioma. (20438308)
2010
36
Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene. (20505258)
2010
37
Intrapericardial paraganglioma. (20089237)
2010
38
Processed allograft: novel use in facial nerve repair after resection of a rare racial nerve paraganglioma. (21225804)
2010
39
Chromosomal changes in sporadic and familial head and neck paragangliomas. (19393419)
2009
40
Congenital collision tumors, neonatal renal mesoblastic nephroma and pararenal paraganglioma. (19784003)
2009
41
Paraganglioma: report of a rare case with ovarian involvement. (17633808)
2007
42
Co-existence of paraganglioma and myxopapillary ependymoma of the cauda equina. (16718356)
2006
43
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. (11391798)
2001
44
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. (11404820)
2001
45
Octreotide scintigraphy for the detection of paragangliomas. (10699810)
2000
46
Primary intrathyroidal paraganglioma with metachronous carotid body tumor: report of a case and review of the literature. (9521512)
1997
47
Intrapericardial phaeochromocytoma associated with two intercarotid paragangliomas: diagnostic considerations. (1461862)
1992
48
Neuroendocrine tumor (paraganglioma) in an adult bovine. (1616995)
1992
49
Gastric paraganglioma: an immunohistological and ultrastructural case study. (2390762)
1990
50
Paraganglioma of the liver seven years following the resection of a carotid body tumor - a case report. (6282999)
1981

Genetic Variations for Paraganglioma

Expression for genes affiliated with Paraganglioma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Paraganglioma

Search GEO for disease gene expression data for Paraganglioma.

Pathways for genes affiliated with Paraganglioma

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 4Cell Signaling Technology
See all sources

Pathways related to Paraganglioma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.5SDHA, SDHC, SDHB, SDHD
2
Hide members
10.5SDHA, SDHC, SDHB, SDHD
3
Hide members
10.5SDHD, SDHB, SDHC, SDHA
4
Hide members
10.5ENO2, SDHD, SDHB, SDHC, SDHA
5
Hide members
10.4SDHA, SDHC, SDHB, SDHD, ENO2, PNMT
610.4VHL, S100B, SYP, RET, ENO2

Compounds for genes affiliated with Paraganglioma

Sources:
11DrugBank, 45Novoseek, 29IUPHAR, 24HMDB, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Paraganglioma according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1UBIQUINONE-11110.9SDHD, SDHA, SDHB, SDHC
22-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol1110.9SDHA, SDHC, SDHB, SDHD
3succinate4510.9SDHB, SDHC, SDHA, SDHD, RET, VHL
4fumarate45 1111.9SDHB, SDHD, SDHC, VHL
5secretoneurin4510.9CHGB, CHGA, GAL, SCG2
6s 1004510.9S100B, ENO2, CHGA, SYP
7mibg4510.9SDHB, CHGA, ENO2, SDHD
8succinic acid29 11 2412.9SDHA, SDHB, SDHD, SDHC
9l-amino acid4510.9SYP, PNMT, ENO2, CHGA, S100B
10iron-sulfur4510.9SDHD, SDHB, SDHC, SDHA
11dopamine45 29 11 2413.9SDHB, CHGB, ENO2, PNMT, SSTR2, CHGA
12ubiquinone4510.9SDHB, SDHD, SDHA, SDHC
13forskolin45 50 1112.8MAX, GAL, SSTR2, ENO2
14iron45 2411.8SDHB, SDHC, SDHD, GAL, S100B, VHL
15catecholamine4510.8ENO2, RET, PNMT, CHGA, SDHD, SDHB
16norepinephrine45 11 2412.8SDHB, ENO2, PNMT, CHGB, CHGA, SYP
17acth4510.8CHGB, SYP, CHGA, GAL, S100B, SSTR2
185-hydroxytryptamine4510.8SCG2, SYP, CHGA, GAL, PNMT, ENO2
19vegf4510.8MEN1, SDHC, SDHB, ENO2, RET, SSTR2
20smcc4510.8SYP, CHGA, ENO2
21glycogen45 2411.8SDHB, ENO2, VHL, CHGA, S100B, SYP
22111in-pentetreotide4510.8SSTR2, CHGA, SYP
23histidine4510.8VHL, SDHB, PNMT, CHGA, SYP, S100B
24acetylcholine45 50 29 11 2414.8S100B, CHGA, SYP, GAL, SCG2, PNMT
25tyrosine4510.8S100B, VHL, ENO2, MEN1, PNMT, RET
26dexamethasone45 50 29 1113.8ENO2, PNMT, GAL, SCG2, S100B, CHGB
27oxygen45 2411.8ENO2, SDHA, VHL, S100B, CHGA, SDHD
28histamine45 29 2412.8CHGA, SYP, SSTR2, PNMT, SCG2, GAL
29formaldehyde45 2411.8CHGA, GAL, SYP, ENO2, S100B
30choline45 11 2412.8ENO2, S100B, SYP, GAL, RET
31calcium45 50 11 2413.7SDHB, ENO2, SSTR2, CHGA, CHGB, RET
32potassium45 11 2412.7S100B, GAL, SYP, CHGB, ENO2, VHL
33octreotide45 60 29 1113.7CHGA, SSTR2, GAL, ENO2
34glucose4510.7SDHB, SSTR2, GAL, SCG2
35testosterone45 60 11 2413.7CHGA, SYP, RET, ENO2, SDHB, S100B
36paraffin4510.7ENO2, RET, SSTR2, CHGA, SYP, S100B
37hematoxylin4510.7ENO2, CHGA, SYP, S100B
38gaba4510.7GAL, CHGA, SYP, S100B, ENO2
39amine4510.7SYP, CHGA, PNMT, ENO2
40etoposide45 50 60 1113.7S100B, GAL, CHGA
41nitric oxide45 11 2412.7CHGA, GAL, S100B, SYP, ENO2, VHL
42adenylate4510.6SSTR2, GAL, CHGA, S100B, ENO2, SCG2
43b 7234510.6CHGA, SYP, S100B
44cyclic amp45 2411.6S100B, SCG2, GAL, RET, SYP, CHGA
45retinoic acid45 2411.5CHGA, SYP, RET, SDHC, S100B, ENO2
46atp45 2911.5SDHB, ENO2, RET, S100B, CHGA, GAL
47edss4510.4ENO2, S100B
48serine4510.4RET, VHL, CHGB, MEN1, S100B, GAL
49estracyt4510.4CHGA, ENO2
50hydrogen45 2411.1PNMT, SYP, GAL, S100B

GO Terms for genes affiliated with Paraganglioma

Sources:
16Gene Ontology
See all sources

Cellular components related to Paraganglioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00574910.5SDHD, SDHB, SDHC, SDHA
2mitochondrionGO:00573910.5VHL, SDHD, SDHAF2, SDHB, SDHC, SDHA
3secretory granuleGO:03014110.3SCG2, GAL, CHGA, CHGB
4mitochondrial inner membraneGO:00574310.2TIMM8B, SDHD, SDHB, SDHC, SDHA

Biological processes related to Paraganglioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:00609910.5SDHA, SDHC, SDHB, SDHD
2succinate metabolic processGO:00610510.5SDHA, SDHB
3respiratory electron transport chainGO:02290410.5SDHD, SDHB, SDHC, SDHA
4cellular metabolic processGO:04423710.4SDHD, SDHB, SDHC, SDHA
5MAPK cascadeGO:00016510.1RET, MEN1, SCG2

Molecular functions related to Paraganglioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:04803910.5SDHB, SDHD
2succinate dehydrogenase (ubiquinone) activityGO:00817710.2SDHA, SDHB

Products for genes affiliated with Paraganglioma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Paraganglioma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet