MCID: PRG013
MIFTS: 51

Paraganglioma malady

Genetic diseases, Cancer diseases, Rare diseases, Endocrine diseases, Cardiovascular diseases, Nephrological diseases categories

Summaries for Paraganglioma

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Citric acid cycle (TCA cycle). The compounds thenoyltrifluoroacetone and Ubiquinol 8 have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and lymph node, and related mouse phenotype cardiovascular system.

Aliases & Classifications for Paraganglioma

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH
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Classifications:



Aliases & Descriptions:

paraganglioma 9 11 46 63


External Ids:

Disease Ontology9 DOID:0050773
MeSH36 D010235

Related Diseases for Paraganglioma

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18GeneCards, 19GeneDecks
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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 158)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma31.4VHL, RET, SDHD, SDHB
2hereditary paraganglioma-pheochromocytoma syndromes31.0SDHB, SDHD, SDHAF2, SDHC
3phaeochromocytoma30.9SDHB, SDHD, SDHC, CHGA, RET
4carotid body tumor30.9SDHB, SDHD, SDHC
5chondroma30.7SDHC, SDHD, SDHB
6paraganglioma and gastric stromal sarcoma30.7SDHB, SDHD, SDHC
7ganglioneuroma30.7CHGA, RET
8carney triad30.6SDHB, SDHD, SDHC
9paragangliomas 530.5SDHA
10paragangliomas 130.5SDHB, CHGA, RET
11gastrointestinal stromal tumor30.4SDHB, SDHC, SDHA
12neuroendocrine tumor30.4RET, CHGA, SDHD
13neurofibromatosis30.1SDHB, SDHD
14multiple endocrine neoplasia30.1PNMT, SDHB, SDHD, SDHC, CHGA, RET
15von hippel-lindau disease30.1VHL, RET, TMEM127, PNMT, SDHB, SDHD
16glomus tumor30.1SDHB, SDHD, VHL
17merkel cell carcinoma29.9CHGA
18parathyroid adenoma29.8CHGA, RET
19cushing's syndrome29.8RET, CHGA
20thyroid medullary carcinoma29.8CHGA, RET, VHL
21multiple endocrine neoplasia type 2a29.7SDHB, SDHD, SDHC, RET, VHL
22hemangioma29.7SDHB, SDHD, SDHAF2, SDHC, RET, VHL
23thyroiditis10.6
24hypertension10.5
25duodenitis10.4
26mediastinitis10.4
27cervicitis10.4
28laryngitis10.4
29pancreatitis10.4
30paragangliomas 410.4
31sarcoma10.3
32paragangliomas 210.3
33paragangliomas 310.3
34adenoma10.3
35polycythemia10.3
36sporadic pheochromocytoma10.3
37leiomyosarcoma10.2
38paragangliomas 1, with or without deafness10.2
39hepatitis10.2
40neuroblastoma10.2
41nonsyndromic paraganglioma10.2
42nasopharyngitis10.2
43papillary thyroid carcinoma10.2
44pituitary adenoma10.2
45prostatitis10.2
46thyroid cancer10.2
47glomus jugulare tumors10.2
48hypoxia10.2
49erythrocytosis10.2
50multiple paragangliomas associated with polycythemia10.2

Graphical network of the top 20 diseases related to Paraganglioma:



Diseases related to paraganglioma

Symptoms for Paraganglioma

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Drugs & Therapeutics for Paraganglioma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Paraganglioma:

34
Thyroid, Testes, Lymph node, Liver, Pituitary, Bone, Lung, Prostate, Heart, Eye, Spinal cord, Kidney, Ovary, Cerebellum, Cortex, Brain, Appendix, Tonsil, Uterus, Pancreas, Trachea, Breast, Adrenal cortex

Animal Models for Paraganglioma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Paraganglioma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3VHL, RET, CHGA, SDHD, PNMT

Publications for Paraganglioma

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53PubMed
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Articles related to Paraganglioma:

(show top 50)    (show all 836)
idTitleAuthorsYear
1
Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma. (23804288)
2014
2
Hypertension secondary to a periprostatic paraganglioma: case report and review of the literature. (24274233)
2013
3
Cervical intradural paraganglioma presenting as progressive cervicodynia: case report and literature review. (22721774)
2013
4
Mesenteric paraganglioma: Report of a case. (23556063)
2013
5
Cardiac paraganglioma. (23500265)
2013
6
Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. (23150681)
2013
7
Paraganglioma of right cervical plexus-a case report. (24427637)
2013
8
Incidental paraganglioma of the urinary bladder in a 66-year-old woman. (23505281)
2013
9
Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options. (23481210)
2013
10
Paraganglioma of the cavernous sinus. (22880502)
2012
11
Head-to-head comparison between SRS, (18)F-FDG and (18)F-FDOPA PET/CT in a patient with recurrent SDHC-related jugular paraganglioma. (22872308)
2012
12
External auditory canal paraganglioma: an atypical presentation. (23020887)
2012
13
A primary cardiac paraganglioma. (21862463)
2012
14
A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. (22889334)
2012
15
Performance of plasma fractionated free metanephrines by enzyme immunoassay in the diagnosis of pheochromocytoma and paraganglioma. (21742610)
2011
16
Paraganglioma mimicking adrenal incidentaloma. (22041734)
2011
17
Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma. (20310044)
2011
18
Paraganglioma of the cauda equina region: A report of three cases. (21811702)
2011
19
Composite paraganglioma with ganglioneuroma in the retroperitoneal space. (20409235)
2010
20
SDH-related pheochromocytoma and paraganglioma. (20833333)
2010
21
SDHA is a tumor suppressor gene causing paraganglioma. (20484225)
2010
22
A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis. (20379037)
2010
23
Multicentric paragangliomas associated with Carney triad. (20336905)
2010
24
Distinguishing clear cell renal cell carcinoma, retroperitoneal paraganglioma, and adrenal cortical lesions on limited biopsy material: utility of immunohistochemical markers. (20861762)
2010
25
Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas. (19596260)
2009
26
Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity. (19145771)
2009
27
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. (19223516)
2009
28
Triple-way therapeutic approach for paraganglioma-dependent erythrocytosis: drugs and surgery plus "multi-manner" apheresis. (18488156)
2008
29
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. (18382370)
2008
30
Detection and treatment of pheochromocytomas and paragangliomas: current standing of MIBG scintigraphy and future role of PET imaging. (19088695)
2008
31
Head and neck paragangliomas: revision of 89 cases in 73 patients]. (17371691)
2007
32
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
33
Malignant hypertension, polycythemia, and paragangliomas. (16647420)
2006
34
A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene. (15476441)
2004
35
Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG. (16982587)
2004
36
Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. (15066320)
2004
37
Multiparameter DNA flow-sorting demonstrates diploidy and SDHD wild-type gene retention in the sustentacular cell compartment of head and neck paragangliomas: chief cells are the only neoplastic component. (15095273)
2004
38
Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene. (11990703)
2002
39
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. (12213855)
2002
40
Treatment of metastatic carcinoid tumours, phaeochromocytoma, paraganglioma and medullary carcinoma of the thyroid with (131)I-meta-iodobenzylguanidine [(131)I-mIBG]. (11453952)
2001
41
Pulmonary gangliocytic paraganglioma: case report and comparative immunohistochemical study of related neuroendocrine neoplasms. (11342785)
2001
42
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. (11343322)
2001
43
Germline SDHD mutation in paraganglioma of the spinal cord. (11526495)
2001
44
Malignant hypertension and paraganglioma in a 14-year-old girl. (9932276)
1999
45
Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction. (9781639)
1998
46
Paraganglioma-Like Adenomas of the Thyroid (PLAT): Incidental Lesions with Unusual Features in a Patient with Nodular Goiter. (12114635)
1997
47
In vitro and in vivo detection of somatostatin receptors in pheochromocytomas and paragangliomas. (1349024)
1992
48
Immunocytochemical demonstration of IGF-II immunoreactivity in human phaeochromocytoma and extra-adrenal abdominal paraganglioma. (1635001)
1992
49
Immunocytochemistry of paragangliomas--value of staining for S-100 protein and glial fibrillary acid protein in diagnosis and prognosis. (1679411)
1991
50
Malignant nonchromaffin paraganglioma or alveolar soft-part sarcoma in the temporal region. (6074147)
1967

Variations for Paraganglioma

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Expression for genes affiliated with Paraganglioma

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB
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Pathways related to Paraganglioma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SDHB, SDHD, SDHC, SDHA
2
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
9.1SDHA, SDHC, SDHD, SDHB
3
Show member pathways
Alzheimers Disease39
9.1SDHA, SDHC, SDHD, SDHB
4
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.1SDHB, SDHD, SDHC, SDHA
58.9MAX, VHL, RET
6
Show member pathways
8.6SDHB, SDHD, SDHC, SDHA, PNMT

Compounds for genes affiliated with Paraganglioma

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46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 30IUPHAR
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Compounds related to Paraganglioma according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone46 1211.1SDHA, SDHB
2Ubiquinol 82510.0SDHA, SDHB
3normetanephrine46 2510.8CHGA, PNMT
4mibg469.8CHGA, SDHD, SDHB
5l-amino acid469.7CHGA, PNMT
6sunitinib46 52 1211.7VHL, RET
7alpha-ketoglutarate469.6VHL, SDHB
8Fumaric acid259.5SDHB, SDHD, SDHC, SDHA
9succinic acid30 25 1211.5SDHB, SDHD, SDHC, SDHA
10iron-sulfur469.5SDHB, SDHD, SDHC, SDHA
11ubiquinone469.5SDHB, SDHD, SDHC, SDHA
12Sulfide259.5SDHA, SDHC, SDHD, SDHB
13QH2259.5SDHB, SDHD, SDHC, SDHA
14Ubiquinone Q2259.5SDHA, SDHC, SDHD, SDHB
15Ubiquinone Q1259.5SDHB, SDHD, SDHC, SDHA
16FAD259.4SDHB, SDHD, SDHC, SDHA
17sorafenib46 52 1211.4VHL, RET
18fumarate46 1210.4VHL, SDHC, SDHD, SDHB
19epinephrine46 25 1211.4PNMT, SDHB, CHGA
20norepinephrine46 25 1211.3CHGA, SDHB, PNMT
21nicotine46 30 52 1212.2PNMT, CHGA, VHL
22clonidine46 52 30 1212.2CHGA, PNMT
23glycogen46 2510.2SDHB, CHGA, VHL
24dopamine46 30 25 1212.0PNMT, SDHB, CHGA, RET
25histidine469.0VHL, CHGA, SDHB, PNMT
26iron46 259.9SDHB, SDHD, SDHC, SDHA, VHL
27catecholamine468.8PNMT, SDHB, SDHD, CHGA, RET
28vegf468.7SDHB, SDHC, CHGA, RET, VHL
29succinate468.6VHL, RET, SDHA, SDHC, SDHD, SDHB
30oxygen46 259.5SDHB, SDHD, SDHC, SDHA, CHGA, VHL
31tyrosine468.4PNMT, SDHB, CHGA, RET, VHL

GO Terms for genes affiliated with Paraganglioma

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17Gene Ontology
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Cellular components related to Paraganglioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.1SDHA, SDHC, SDHD, SDHB
2mitochondrial respiratory chain complex IIGO:0057499.0SDHA, SDHC, SDHD, SDHB
3mitochondrionGO:0057398.0SDHB, SDHD, SDHAF2, SDHC, SDHA, VHL

Biological processes related to Paraganglioma according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:0061059.8SDHA, SDHB
2aerobic respirationGO:0090609.7SDHC, SDHB
3retina development in camera-type eyeGO:0600419.4MAX, RET
4tricarboxylic acid cycleGO:0060999.3SDHA, SDHC, SDHD, SDHB
5respiratory electron transport chainGO:0229049.2SDHB, SDHD, SDHC, SDHA
6cellular metabolic processGO:0442379.2SDHB, SDHD, SDHC, SDHA
7small molecule metabolic processGO:0442818.3PNMT, SDHB, SDHD, SDHC, SDHA

Molecular functions related to Paraganglioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:0081779.7SDHA, SDHB
2ubiquinone bindingGO:0480399.6SDHB, SDHD
3electron carrier activityGO:0090559.5SDHC, SDHD, SDHB
4succinate dehydrogenase activityGO:0001049.5SDHA, SDHC, SDHD

Products for genes affiliated with Paraganglioma

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Sources for Paraganglioma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet