MCID: PRG013
MIFTS: 60

Paraganglioma malady

Genetic diseases, Cancer diseases, Rare diseases, Endocrine diseases, Cardiovascular diseases, Nephrological diseases categories
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Summaries for Paraganglioma

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Disease Ontology:8 A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.

MalaCards based summary: Paraganglioma, also known as glomus tumor, 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, smooth muscle and testes, and related mouse phenotype cardiovascular system.

Wikipedia:65 A paraganglioma is rare neuroendocrine neoplasm that may develop at various body sites (including the... more...

Descriptions from OMIM:46 601650,168000,605373,614165,116310

Aliases & Classifications for Paraganglioma

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 48Orphanet, 46OMIM, 34MeSH, 57SNOMED-CT, 39NCIt
See all sources

Paraganglioma, Aliases & Descriptions:

Name: Paraganglioma 8 10 44 62
Glomus Tumor 8 44 48 62
Glomus Neoplasm 8 62
 
Carotid Body Paraganglioma 62
Glomus Tumour 8
Chemodectoma 8


Classifications:

Orphanet: 48 
Rare tumors


Characteristics (Orphanet epidemiological data):

48
glomus tumor:
Age of onset: Variable


External Ids:

Disease Ontology8 DOID:0050773, DOID:2431
NCIt39 C3060

Related Diseases for Paraganglioma

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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 199)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma31.4VHL, SDHB, SDHD, RET
2hereditary paraganglioma-pheochromocytoma syndromes31.2SDHC, SDHAF2, SDHD, SDHB
3carotid body tumor31.1SDHB, SDHD, SDHC
4paragangliomas 531.0SDHA
5chondroma31.0SDHD, SDHC, SDHB
6paraganglioma and gastric stromal sarcoma31.0SDHC, SDHD, SDHB
7carney triad30.9SDHD, SDHB, SDHC
8ganglioneuroma30.9CHGA, RET
9phaeochromocytoma30.8SDHC, CHGA, SDHB, SDHD, RET
10paragangliomas 130.7SDHB, CHGA, RET
11gastrointestinal stromal tumor30.6SDHA, SDHC, SDHB
12neuroendocrine tumor30.6RET, CHGA, SDHD
13neurofibromatosis30.5SDHD, SDHB
14merkel cell carcinoma30.4CHGA
15parathyroid adenoma30.1CHGA, RET
16cushing's syndrome29.9CHGA, RET
17thyroid medullary carcinoma29.8CHGA, RET, VHL
18multiple endocrine neoplasia type 2a29.5SDHD, SDHC, RET, VHL, SDHB
19multiple endocrine neoplasia29.4SDHD, SDHB, PNMT, VHL, RET, CHGA
20hemangioma29.3SDHD, VHL, RET, SDHC, SDHB, SDHAF2
21von hippel-lindau disease29.2VHL, RET, TMEM127, SDHC, SDHD, SDHB
22subungual glomus tumor10.8
23glomangioma10.7
24thyroiditis10.6
25glomangiosarcoma10.5
26hypertension10.5
27hemangiopericytoma10.5
28duodenitis10.4
29mediastinitis10.4
30paragangliomas 410.4
31skin glomus tumor10.4
32cervicitis10.4
33laryngitis10.4
34pancreatitis10.4
35neuroma10.4RET
36polycythemia10.3
37sporadic pheochromocytoma10.3
38sarcoma10.3
39paragangliomas 210.3
40paragangliomas 310.3
41nonsyndromic paraganglioma10.3
42abdominal chemodectomas with cutaneous angiolipomas10.3
43glomangiomyoma10.3
44adenoma10.3
45renal clear cell carcinoma10.3VHL
46leiomyosarcoma10.3
47paragangliomas 1, with or without deafness10.3
48leigh disease10.2SDHA, SDHB
49vaginitis10.2
50leiomyomatosis10.2SDHB, VHL

Graphical network of the top 20 diseases related to Paraganglioma:



Diseases related to paraganglioma

Symptoms for Paraganglioma

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Clinical features from OMIM:

601650,168000,605373,614165,116310

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:

32
Thyroid, Smooth muscle, Testes, Lymph node, Liver, Pituitary, Bone, Lung, 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:

36
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 871)
idTitleAuthorsYear
1
Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma. (23804288)
2014
2
Pediatric pheochromocytoma and paraganglioma: an update. (25373696)
2014
3
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. (25275255)
2014
4
Hypertension secondary to a periprostatic paraganglioma: case report and review of the literature. (24274233)
2013
5
Cervical intradural paraganglioma presenting as progressive cervicodynia: case report and literature review. (22721774)
2013
6
Mesenteric paraganglioma: Report of a case. (23556063)
2013
7
Cardiac paraganglioma. (23500265)
2013
8
Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. (23150681)
2013
9
Paraganglioma of right cervical plexus-a case report. (24427637)
2013
10
Incidental paraganglioma of the urinary bladder in a 66-year-old woman. (23505281)
2013
11
Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options. (23481210)
2013
12
Paraganglioma of the cavernous sinus. (22880502)
2012
13
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
14
External auditory canal paraganglioma: an atypical presentation. (23020887)
2012
15
A primary cardiac paraganglioma. (21862463)
2012
16
Performance of plasma fractionated free metanephrines by enzyme immunoassay in the diagnosis of pheochromocytoma and paraganglioma. (21742610)
2011
17
Paraganglioma mimicking adrenal incidentaloma. (22041734)
2011
18
Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma. (20310044)
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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Expression patterns in normal tissues for genes affiliated with Paraganglioma

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Pathways for genes affiliated with Paraganglioma

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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 cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.1SDHA, SDHC, SDHD, SDHB
3
Show member pathways
Alzheimers Disease37
9.1SDHA, SDHC, SDHD, SDHB
4
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
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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Sources:
44Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 28IUPHAR
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Compounds related to Paraganglioma according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1111.1SDHA, SDHB
2Ubiquinol 82410.0SDHA, SDHB
3normetanephrine44 2410.8CHGA, PNMT
4mibg449.8CHGA, SDHD, SDHB
5l-amino acid449.7CHGA, PNMT
6sunitinib44 50 1111.7VHL, RET
7alpha-ketoglutarate449.6VHL, SDHB
8Fumaric acid249.5SDHB, SDHD, SDHC, SDHA
9succinic acid28 24 1111.5SDHB, SDHD, SDHC, SDHA
10iron-sulfur449.5SDHB, SDHD, SDHC, SDHA
11ubiquinone449.5SDHB, 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
17sorafenib44 50 1111.4VHL, RET
18fumarate44 1110.4VHL, SDHC, SDHD, SDHB
19epinephrine44 24 1111.4PNMT, SDHB, CHGA
20norepinephrine44 24 1111.3CHGA, SDHB, PNMT
21nicotine44 28 50 1112.2PNMT, CHGA, VHL
22clonidine44 50 28 1112.2CHGA, PNMT
23glycogen44 2410.2SDHB, CHGA, VHL
24dopamine44 28 24 1112.0PNMT, SDHB, CHGA, RET
25histidine449.0VHL, CHGA, SDHB, PNMT
26iron44 249.9SDHB, SDHD, SDHC, SDHA, VHL
27catecholamine448.8PNMT, SDHB, SDHD, CHGA, RET
28vegf448.7SDHB, SDHC, CHGA, RET, VHL
29succinate448.6VHL, RET, SDHA, SDHC, SDHD, SDHB
30oxygen44 249.5SDHB, SDHD, SDHC, SDHA, CHGA, VHL
31tyrosine448.4PNMT, SDHB, CHGA, RET, VHL

GO Terms for genes affiliated with Paraganglioma

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet