MCID: PRG013
MIFTS: 46

Paraganglioma malady

Genetic diseases, Endocrine diseases, Rare diseases, Cancer diseases categories

Aliases & Classifications for Paraganglioma

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 33MeSH
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Paraganglioma, Aliases & Descriptions:

Name: Paraganglioma 9 11 43 60
Extra-Adrenal Paraganglioma 60
 
Carotid Body Paraganglioma 60
Chemodectoma 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Endocrine diseases


External Ids:

Disease Ontology9 DOID:0050773
MeSH33 D010235

Summaries for Paraganglioma

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Wikipedia:63 A paraganglioma is rare neuroendocrine neoplasm that may develop at various body sites (including the... more...

MalaCards based summary: Paraganglioma, also known as extra-adrenal 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.

Related Diseases for Paraganglioma

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Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 3
Paragangliomas 5 Paragangliomas 2
Nonsyndromic Paraganglioma

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

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma31.4VHL, RET, SDHD, SDHB
2hereditary paraganglioma-pheochromocytoma syndromes31.2SDHB, SDHD, SDHAF2, SDHC
3paragangliomas 531.2SDHA
4paragangliomas 1, with or without deafness31.1SDHB, SDHD, SDHC
5paraganglioma and gastric stromal sarcoma31.0SDHB, SDHD, SDHC
6chondroma31.0SDHC, SDHD, SDHB
7carney triad30.9SDHB, SDHD, SDHC
8ganglioneuroma30.9CHGA, RET
9phaeochromocytoma30.8SDHB, SDHD, SDHC, CHGA, RET
10gastrointestinal stromal tumor30.7SDHB, SDHC, SDHA
11neuroendocrine tumor30.6RET, CHGA, SDHD
12merkel cell carcinoma30.4CHGA
13glomus tumor30.2SDHB, SDHD, VHL
14parathyroid adenoma30.1CHGA, RET
15cushing's syndrome29.9RET, CHGA
16multiple endocrine neoplasia iia29.5SDHB, SDHD, SDHC, RET, VHL
17neurofibromatosis29.5SDHB, SDHD, SDHC, RET, VHL
18multiple endocrine neoplasia29.4PNMT, SDHB, SDHD, SDHC, CHGA, RET
19hemangioma29.3SDHB, SDHD, SDHAF2, SDHC, RET, VHL
20von hippel-lindau syndrome29.1VHL, RET, TMEM127, PNMT, SDHB, SDHD
21thyroiditis10.6
22paragangliomas 410.4
23paragangliomas 210.4
24duodenitis10.4
25mediastinitis10.4
26pancreatitis10.4
27paragangliomas 310.4
28cervicitis10.4
29laryngitis10.4
30nonsyndromic paraganglioma10.4
31neuroma10.4RET
32abdominal chemodectomas with cutaneous angiolipomas10.4
33polycythemia10.3
34sporadic pheochromocytoma10.3
35adenoma10.3
36sarcoma10.3
37neurofibromatosis, type 210.3SDHB, SDHD
38renal clear cell carcinoma10.3VHL
39neuroblastoma10.3
40leiomyosarcoma10.3
41non-secreting chemodectoma10.3
42leigh syndrome10.2SDHA, SDHB
43hepatitis10.2
44pituitary adenoma10.2
45hypoxia10.2
46multiple paragangliomas associated with polycythemia10.2
47leiomyomatosis10.2SDHB, VHL
48islet cell tumor10.2RET, CHGA
49endocrine gland cancer10.2CHGA, RET
50somatostatinoma10.2

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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Drug clinical trials:

Search ClinicalTrials for Paraganglioma

Search NIH Clinical Center for Paraganglioma

Genetic Tests for Paraganglioma

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Anatomical Context for Paraganglioma

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MalaCards organs/tissues related to Paraganglioma:

31
Thyroid, Testes, Lymph node, Pituitary, Liver, Lung, Bone, Prostate, Eye, Spinal cord, Heart, Kidney, Ovary, Brain, Cortex, Cerebellum, Pancreas, Breast, Uterus, Testis, Tonsil, Trachea, Appendix, Adrenal cortex

Animal Models for Paraganglioma or affiliated genes

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MGI Mouse Phenotypes related to Paraganglioma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3VHL, RET, CHGA, SDHD, PNMT

Publications for Paraganglioma

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Articles related to Paraganglioma:

(show top 50)    (show all 892)
idTitleAuthorsYear
1
Diagnosing phaeochromocytoma/paraganglioma in a patient presenting with critical illness: biochemistry versus imaging. (25683095)
2015
2
Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes. (25871962)
2015
3
Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma. (23804288)
2014
4
Pediatric pheochromocytoma and paraganglioma: an update. (25373696)
2014
5
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. (25275255)
2014
6
Hypertension secondary to a periprostatic paraganglioma: case report and review of the literature. (24274233)
2013
7
Cervical intradural paraganglioma presenting as progressive cervicodynia: case report and literature review. (22721774)
2013
8
Mesenteric paraganglioma: Report of a case. (23556063)
2013
9
Cardiac paraganglioma. (23500265)
2013
10
Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. (23150681)
2013
11
Paraganglioma of right cervical plexus-a case report. (24427637)
2013
12
Incidental paraganglioma of the urinary bladder in a 66-year-old woman. (23505281)
2013
13
Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options. (23481210)
2013
14
Paraganglioma of the cavernous sinus. (22880502)
2012
15
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
16
External auditory canal paraganglioma: an atypical presentation. (23020887)
2012
17
A primary cardiac paraganglioma. (21862463)
2012
18
Performance of plasma fractionated free metanephrines by enzyme immunoassay in the diagnosis of pheochromocytoma and paraganglioma. (21742610)
2011
19
Paraganglioma mimicking adrenal incidentaloma. (22041734)
2011
20
Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma. (20310044)
2011
21
Composite paraganglioma with ganglioneuroma in the retroperitoneal space. (20409235)
2010
22
SDH-related pheochromocytoma and paraganglioma. (20833333)
2010
23
SDHA is a tumor suppressor gene causing paraganglioma. (20484225)
2010
24
A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis. (20379037)
2010
25
Multicentric paragangliomas associated with Carney triad. (20336905)
2010
26
Distinguishing clear cell renal cell carcinoma, retroperitoneal paraganglioma, and adrenal cortical lesions on limited biopsy material: utility of immunohistochemical markers. (20861762)
2010
27
Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas. (19596260)
2009
28
Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity. (19145771)
2009
29
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. (19223516)
2009
30
Triple-way therapeutic approach for paraganglioma-dependent erythrocytosis: drugs and surgery plus "multi-manner" apheresis. (18488156)
2008
31
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. (18382370)
2008
32
Detection and treatment of pheochromocytomas and paragangliomas: current standing of MIBG scintigraphy and future role of PET imaging. (19088695)
2008
33
Head and neck paragangliomas: revision of 89 cases in 73 patients]. (17371691)
2007
34
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
35
Malignant hypertension, polycythemia, and paragangliomas. (16647420)
2006
36
A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene. (15476441)
2004
37
Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG. (16982587)
2004
38
Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. (15066320)
2004
39
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
40
Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene. (11990703)
2002
41
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. (12213855)
2002
42
Treatment of metastatic carcinoid tumours, phaeochromocytoma, paraganglioma and medullary carcinoma of the thyroid with (131)I-meta-iodobenzylguanidine [(131)I-mIBG]. (11453952)
2001
43
Pulmonary gangliocytic paraganglioma: case report and comparative immunohistochemical study of related neuroendocrine neoplasms. (11342785)
2001
44
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. (11343322)
2001
45
Germline SDHD mutation in paraganglioma of the spinal cord. (11526495)
2001
46
Malignant hypertension and paraganglioma in a 14-year-old girl. (9932276)
1999
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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Cosmic variations for Paraganglioma:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1499HRASautonomic ganglia,abdomen,paraganglioma,benign1

Expression for genes affiliated with Paraganglioma

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Search GEO for disease gene expression data for Paraganglioma.

Pathways for genes affiliated with Paraganglioma

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Pathways related to Paraganglioma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SDHD, SDHC, SDHA, SDHB
2
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
9.1SDHA, SDHC, SDHD, SDHB
3
Show member pathways
Alzheimers Disease36
9.1SDHA, SDHC, SDHD, SDHB
4
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.1SDHB, SDHD, SDHC, SDHA
58.9MAX, VHL, RET
6
Show member pathways
8.6SDHB, PNMT, SDHD, SDHC, SDHA

Compounds for genes affiliated with Paraganglioma

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Sources:
43Novoseek, 12DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
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Compounds related to Paraganglioma according to GeneCards Suite gene sharing:

(show all 31)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone43 1211.1SDHA, SDHB
2Ubiquinol 82410.0SDHA, SDHB
3normetanephrine43 2410.8CHGA, PNMT
4mibg439.8CHGA, SDHD, SDHB
5l-amino acid439.7CHGA, PNMT
6sunitinib43 49 1211.7VHL, RET
7alpha-ketoglutarate439.6VHL, SDHB
8Fumaric acid249.5SDHB, SDHD, SDHC, SDHA
9succinic acid28 24 1211.5SDHB, SDHD, SDHC, SDHA
10iron-sulfur439.5SDHB, SDHD, SDHC, SDHA
11ubiquinone439.5SDHB, SDHD, SDHC, SDHA
12Sulfide249.5SDHA, SDHC, SDHD, SDHB
13QH2249.5SDHB, SDHD, SDHC, SDHA
14Ubiquinone Q2249.5SDHA, SDHC, SDHD, SDHB
15Ubiquinone Q1249.5SDHB, SDHD, SDHC, SDHA
16FAD249.4SDHB, SDHD, SDHC, SDHA
17sorafenib43 49 1211.4VHL, RET
18fumarate43 1210.4VHL, SDHC, SDHD, SDHB
19epinephrine43 24 1211.4PNMT, SDHB, CHGA
20norepinephrine43 24 1211.3CHGA, SDHB, PNMT
21nicotine43 28 49 1212.2PNMT, CHGA, VHL
22clonidine43 49 28 1212.2CHGA, PNMT
23glycogen43 2410.2SDHB, CHGA, VHL
24dopamine43 28 24 1212.0PNMT, SDHB, CHGA, RET
25histidine439.0VHL, CHGA, SDHB, PNMT
26iron43 249.9SDHB, SDHD, SDHC, SDHA, VHL
27catecholamine438.8PNMT, SDHB, SDHD, CHGA, RET
28vegf438.7SDHB, SDHC, CHGA, RET, VHL
29succinate438.6VHL, RET, SDHA, SDHC, SDHD, SDHB
30oxygen43 249.5SDHB, SDHD, SDHC, SDHA, CHGA, VHL
31tyrosine438.4PNMT, SDHB, CHGA, RET, VHL

GO Terms for genes affiliated with Paraganglioma

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Cellular components related to Paraganglioma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.1SDHA, SDHD, SDHB, SDHC
2mitochondrial respiratory chain complex IIGO:00057499.0SDHB, SDHD, SDHC, SDHA
3mitochondrionGO:00057398.0VHL, SDHB, SDHD, SDHAF2, SDHC, SDHA

Biological processes related to Paraganglioma according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00061059.8SDHA, SDHB
2aerobic respirationGO:00090609.7SDHC, SDHB
3retina development in camera-type eyeGO:00600419.4MAX, RET
4tricarboxylic acid cycleGO:00060999.3SDHA, SDHC, SDHD, SDHB
5respiratory electron transport chainGO:00229049.2SDHB, SDHD, SDHC, SDHA
6cellular metabolic processGO:00442379.2SDHB, SDHD, SDHC, SDHA
7small molecule metabolic processGO:00442818.3PNMT, SDHB, SDHD, SDHC, SDHA

Molecular functions related to Paraganglioma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00081779.7SDHA, SDHB
2ubiquinone bindingGO:00480399.6SDHB, SDHD
3electron carrier activityGO:00090559.5SDHC, SDHD, SDHB
4succinate dehydrogenase activityGO:00001049.5SDHA, SDHC, SDHD

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet