MCID: PRG013
MIFTS: 49

Paraganglioma malady

Summaries for Paraganglioma

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 thyroid, testes and lymph node, and related mouse phenotype endocrine/exocrine gland.

Aliases & Classifications for Paraganglioma

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH
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Aliases & Descriptions:

paraganglioma 8 10 44 60


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Disease Ontology8 DOID:0050773
MeSH34 D010235

Related Diseases for Paraganglioma

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17GeneCards, 18GeneDecks
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Diseases in the Paragangliomas 4 family:

paraganglioma Paragangliomas 1
Paragangliomas 2 Paragangliomas 3
Nonsyndromic Paraganglioma Paragangliomas 5

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

(show top 50)    (show all 215)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma31.4SDHB, VHL, RET, SDHD
2hereditary paraganglioma-pheochromocytoma syndromes30.9SDHC, SDHB, SDHAF2, SDHD
3phaeochromocytoma30.9SDHC, SDHB, SDHD, RET, CHGA
4hypertension30.6PNMT
5chondroma30.5SDHD, SDHB, SDHC
6ganglioneuroma30.5SYP, CHGA, RET, ENO2, S100B, SCG2
7paraganglioma and gastric stromal sarcoma30.5SDHB, SDHD, SDHC
8sarcoma30.4S100B, SSTR2, ENO2
9glomus tumor30.3SDHD, VHL, SYP, SDHB
10gastrointestinal stromal tumor30.3ENO2, SDHB, S100B, SDHA, SDHC
11thyroid medullary carcinoma30.3ENO2, SSTR2, MEN1, CHGA, CHGB, VHL
12adenoma30.3SCG2, CHGA, VHL, MEN1, CHGB, SYP
13neuroendocrine tumor30.3CHGA, SSTR2
14von hippel-lindau disease30.3SDHC, SDHB, SDHD, TMEM127, RET, MEN1
15paragangliomas 130.3SDHB, CHGA, RET
16neuroblastoma30.2ENO2, SYP
17hepatitis30.2GAL
18carotid body tumor30.1SDHC, SDHB, SDHD
19thyroid cancer30.1CHGA, RET
20papillary carcinoma30.1CHGA, SSTR2, SYP, RET
21pituitary adenoma30.1RET, SSTR2, CHGA, SYP, MEN1, GAL
22somatostatinoma30.0SSTR2, CHGA
23ganglioneuroblastoma30.0ENO2, S100B, SYP
24carney triad29.9SDHD, SDHB, SDHC
25neurofibromatosis29.9SDHC, SDHB, SDHD, ENO2, RET, MEN1
26parathyroid adenoma29.9CHGB, CHGA, MEN1, RET
27neuroendocrine carcinoma29.9S100B, CHGA, SCG2, MEN1, SYP, ENO2
28meningioma29.9SYP, S100B, SSTR2, MEN1
29melanoma29.9ENO2, S100B, GAL, SSTR2
30hemangioma29.7RET, MEN1, VHL, SDHD, SDHAF2, SDHC
31granular cell tumor29.7S100B, SYP, ENO2
32cushing's syndrome29.7RET, CHGA, SYP, MEN1
33merkel cell carcinoma29.7SYP, CHGA, ENO2
34peripheral primitive neuroectodermal tumor29.7SCG2, S100B, CHGA, ENO2
35adenocarcinoma29.7CHGA, SSTR2, VHL, SCG2, GAL, MEN1
36vipoma29.7CHGA, MEN1
37thyroiditis10.5
38duodenitis10.4
39mediastinitis10.4
40cervicitis10.3
41laryngitis10.3
42pancreatitis10.3
43nonsyndromic paraganglioma10.3
44paragangliomas 410.3
45polycythemia10.2
46paragangliomas 210.2
47paragangliomas 310.2
48leiomyosarcoma10.2
49paragangliomas 1, with or without deafness10.2
50gastric leiomyosarcoma10.2

Graphical network of the top 20 diseases related to Paraganglioma:



Diseases related to paraganglioma

Clinical Features for Paraganglioma

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Drugs & Therapeutics for Paraganglioma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Paraganglioma

Drug clinical trials:

Search ClinicalTrials for Paraganglioma

Search NIH Clinical Center for Paraganglioma

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Genetic Tests for Paraganglioma

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Anatomical Context for Paraganglioma

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32MalaCards
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MalaCards organs/tissues related to Paraganglioma:

32
Thyroid, Testes, Lymph node, Pituitary, Liver, Bone, Lung, Prostate, Kidney, Heart, Spinal cord, Ovary, Eye, Cortex, Appendix, Trachea, Tonsil, Pancreas, Breast, Cerebellum, Uterus, Brain, Adrenal cortex

Animal Models for Paraganglioma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Paraganglioma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.4SDHD, RET, CHGB, CHGA, MEN1, GAL

Publications for Paraganglioma

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50PubMed
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Articles related to Paraganglioma:

(show top 50)    (show all 844)
idTitleAuthorsYear
1
Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis. (24096523)
2014
2
18F-DOPA PET/CT in the evaluation of hereditary SDH-deficiency paraganglioma-pheochromocytoma syndromes. (23856824)
2014
3
Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. (23551045)
2013
4
Gangliocytic paraganglioma of duodenum. (24073351)
2013
5
Successful treatment of paraganglioma with sorafenib: a case report and brief review of the literature. (24235841)
2013
6
Systemic therapies for malignant pheochromocytoma and paraganglioma can exacerbate hypertension. (23815541)
2013
7
Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. (23433498)
2013
8
Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. (22351710)
2012
9
Primary intrathyroidal paraganglioma: histopathology and novel molecular alterations. (23079201)
2012
10
Cutaneous paraganglioma of the vertex in a child. (22801173)
2012
11
Thyroid paraganglioma. Report of 3 cases and description of an immunohistochemical profile useful in the differential diagnosis with medullary thyroid carcinoma, based on complementary DNA array results. (22209341)
2012
12
An exclusively dopamine secreting paraganglioma in the retroperitoneum: a first clinical case in Korea. (22708103)
2012
13
Functional Paraganglioma: A Rare Conus-cauda Lesion. (23066465)
2012
14
Gangliocytic paraganglioma of the duodenum. (23166897)
2012
15
Malignant pheochromocytoma and paraganglioma: three cases illustrating the use of molecular targeted diagnostics and therapy and possible role of new drugs. (21714698)
2011
16
Novel use of F-DOPA PET/CT imaging in a child with paraganglioma/pheochromocytoma syndrome. (21567141)
2011
17
Segmental groove pancreatitis and duodenal gangliocytic paraganglioma with lymph node metastasis: a newly described association. (21926554)
2011
18
Paraaortic paraganglioma arising in an ovarian carcinoma patient mimicking lymph node metastasis. (20178553)
2010
19
Paraganglioma of the cauda equina: a highly vascular tumour. (20637630)
2010
20
Intrapericardial paraganglioma in a 78-year-old female patient. (20420262)
2010
21
Paraganglioma of the filum terminale presenting with normal pressure hydrocephalus. (20444539)
2010
22
Duodenal gangliocytic paraganglioma showing lymph node metastasis: a rare case report. (20444291)
2010
23
Case note: retroperitoneal nonfunctioning paraganglioma. (20100402)
2010
24
Early presentation of familial paraganglioma with SDHB mutation in a 13 year old child and its mother. (20583550)
2010
25
Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. (19915015)
2010
26
Metastatic paraganglioma. (21167381)
2010
27
Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas. (19289533)
2009
28
Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma. (19956719)
2009
29
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. (19628817)
2009
30
Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis. (19261994)
2009
31
Recent advances in the genetics of phaeochromocytoma and functional paraganglioma. (18307724)
2008
32
R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. (18362451)
2008
33
Basic fibroblast growth factor and fibroblastic growth factor receptor-1 may contribute to head and neck paraganglioma development by an autocrine or paracrine mechanism. (16949906)
2007
34
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. (17535989)
2007
35
Bilateral pheochromocytoma associated with paraganglioma and papillary thyroid carcinoma: report of an unusual case. (17264467)
2007
36
Corticotropin-producing pulmonary gangliocytic paraganglioma associated with Cushing's syndrome. (16647961)
2006
37
Paraganglioma syndrome and mutations of the SDHC gene. (16467230)
2006
38
Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation. (15365827)
2004
39
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. (12213855)
2002
40
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)
2002
41
Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. (12007193)
2002
42
Clinical report on the L95P mutation in a Dutch family with paraganglioma. (12218630)
2002
43
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. (11391796)
2001
44
Sympathetic paraganglioma as an unusual cause of Horner's syndrome. (11400237)
2001
45
Paraganglioma of the urinary bladder: can biologic potential be predicted? (10679654)
2000
46
Retroperitoneal non-secreting paraganglioma]. (10209712)
1999
47
Association of gastrointestinal stromal tumor (leiomyosarcoma), pulmonary chondroma, and nonfunctional retroperitoneal paraganglioma. (9835913)
1998
48
Extra-adrenal functional paraganglioma (phaeochromocytoma) associated with renal-artery stenosis in a pregnant woman. (9829502)
1998
49
Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes. (8946172)
1996
50
In vitro and in vivo detection of somatostatin receptors in pheochromocytomas and paragangliomas. (1349024)
1992

Genetic Variations for Paraganglioma

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Expression for genes affiliated with Paraganglioma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paraganglioma

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Pathways for genes affiliated with Paraganglioma

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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 4Cell Signaling Technology
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Pathways related to Paraganglioma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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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

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11DrugBank, 44Novoseek, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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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
3succinate4410.9SDHB, SDHC, SDHA, SDHD, RET, VHL
4fumarate44 1111.9SDHB, SDHD, SDHC, VHL
5secretoneurin4410.9CHGB, CHGA, GAL, SCG2
6s 1004410.9S100B, ENO2, CHGA, SYP
7mibg4410.9SDHB, CHGA, ENO2, SDHD
8succinic acid28 11 2412.9SDHA, SDHB, SDHD, SDHC
9l-amino acid4410.9SYP, PNMT, ENO2, CHGA, S100B
10iron-sulfur4410.9SDHD, SDHB, SDHC, SDHA
11dopamine44 28 11 2413.9SDHB, CHGB, ENO2, PNMT, SSTR2, CHGA
12ubiquinone4410.9SDHB, SDHD, SDHA, SDHC
13forskolin44 49 1112.8MAX, GAL, SSTR2, ENO2
14iron44 2411.8SDHB, SDHC, SDHD, GAL, S100B, VHL
15catecholamine4410.8ENO2, RET, PNMT, CHGA, SDHD, SDHB
16norepinephrine44 11 2412.8SDHB, ENO2, PNMT, CHGB, CHGA, SYP
17acth4410.8CHGB, SYP, CHGA, GAL, S100B, SSTR2
185-hydroxytryptamine4410.8SCG2, SYP, CHGA, GAL, PNMT, ENO2
19vegf4410.8MEN1, SDHC, SDHB, ENO2, RET, SSTR2
20smcc4410.8SYP, CHGA, ENO2
21glycogen44 2411.8SDHB, ENO2, VHL, CHGA, S100B, SYP
22111in-pentetreotide4410.8SSTR2, CHGA, SYP
23histidine4410.8VHL, SDHB, PNMT, CHGA, SYP, S100B
24acetylcholine44 49 28 11 2414.8S100B, CHGA, SYP, GAL, SCG2, PNMT
25tyrosine4410.8S100B, VHL, ENO2, MEN1, PNMT, RET
26dexamethasone44 49 28 1113.8ENO2, PNMT, GAL, SCG2, S100B, CHGB
27oxygen44 2411.8ENO2, SDHA, VHL, S100B, CHGA, SDHD
28histamine44 28 2412.8CHGA, SYP, SSTR2, PNMT, SCG2, GAL
29formaldehyde44 2411.8CHGA, GAL, SYP, ENO2, S100B
30choline44 11 2412.8ENO2, S100B, SYP, GAL, RET
31calcium44 49 11 2413.7SDHB, ENO2, SSTR2, CHGA, CHGB, RET
32potassium44 11 2412.7S100B, GAL, SYP, CHGB, ENO2, VHL
33octreotide44 59 28 1113.7CHGA, SSTR2, GAL, ENO2
34glucose4410.7SDHB, SSTR2, GAL, SCG2
35testosterone44 59 11 2413.7CHGA, SYP, RET, ENO2, SDHB, S100B
36paraffin4410.7ENO2, RET, SSTR2, CHGA, SYP, S100B
37hematoxylin4410.7ENO2, CHGA, SYP, S100B
38gaba4410.7GAL, CHGA, SYP, S100B, ENO2
39amine4410.7SYP, CHGA, PNMT, ENO2
40etoposide44 49 59 1113.7S100B, GAL, CHGA
41nitric oxide44 11 2412.7CHGA, GAL, S100B, SYP, ENO2, VHL
42adenylate4410.6SSTR2, GAL, CHGA, S100B, ENO2, SCG2
43b 7234410.6CHGA, SYP, S100B
44cyclic amp44 2411.6S100B, SCG2, GAL, RET, SYP, CHGA
45retinoic acid44 2411.5CHGA, SYP, RET, SDHC, S100B, ENO2
46atp44 2811.5SDHB, ENO2, RET, S100B, CHGA, GAL
47edss4410.4ENO2, S100B
48serine4410.4RET, VHL, CHGB, MEN1, S100B, GAL
49estracyt4410.4CHGA, ENO2
50hydrogen44 2411.1PNMT, SYP, GAL, S100B

GO Terms for genes affiliated with Paraganglioma

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16Gene Ontology
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Cellular components related to Paraganglioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00574910.5SDHA, SDHC, SDHB, SDHD
2mitochondrionGO:00573910.5SDHA, SDHC, SDHB, SDHAF2, SDHD, VHL
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

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Sources for Paraganglioma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet