MCID: PRG017

Paraganglioma and Gastric Stromal Sarcoma malady

Summaries for Paraganglioma and Gastric Stromal Sarcoma

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33OMIM, 22MalaCards
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MalaCards: Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis dyad of paraganglioma and gastric stromal sarcoma, is related to pheochromocytoma and hereditary paraganglioma-pheochromocytoma syndromes. An important gene associated with Paraganglioma and Gastric Stromal Sarcoma is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways are Citric acid cycle (TCA cycle) and Citrate cycle (TCA cycle). The compounds mibg and catecholamine have been mentioned in the context of this disorder.

OMIM: 606864

Aliases & Descriptions for Paraganglioma and Gastric Stromal Sarcoma

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43UMLS, 30NIH Rare Diseases, 33OMIM
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paraganglioma and gastric stromal sarcoma 30 33
carney-stratakis dyad of paraganglioma and gastric stromal sarcoma 30
paraganglioma and gastrointestinal stromal tumor 30
carney-stratakis syndrome 30
paraganglioma and gist 30
paraganglioma 43
carney dyad 30

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

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13GeneCards, 14GeneDecks
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Diseases related to paraganglioma and gastric stromal sarcoma by text searches and GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma33.1SDHB, SDHC, SDHD
2hereditary paraganglioma-pheochromocytoma syndromes31.9SDHB, SDHC, SDHD
3gastrointestinal stromal tumor31.1SDHB, SDHC, SDHD
4carney triad30.5SDHD, SDHC, SDHB
5chondroma29.1SDHB, SDHC, SDHD
6paraganglioma29.1SDHB, SDHC, SDHD
7sarcoma28.6SDHB, SDHC, SDHD
8carotid body tumor28.0SDHD, SDHC, SDHB
9cervicitis26.8SDHD, SDHC, SDHB
10von hippel-lindau disease26.5SDHD, SDHC, SDHB
11thyroid carcinoma26.3SDHB, SDHC, SDHD
12hypoxia26.3SDHB, SDHC, SDHD
13mediastinitis26.1SDHD, SDHB
14mitochondrial complex ii deficiency25.2SDHD, SDHC, SDHB
15adrenocortical tumor25.2SDHD, SDHC, SDHB
16multiple endocrine neoplasia25.2SDHB, SDHC, SDHD
17thyroid cancer25.0SDHD, SDHC, SDHB
18renal cell carcinoma24.8SDHB, SDHC, SDHD
19adenoma24.8SDHB, SDHC, SDHD
20cowden-like syndrome12.7SDHB, SDHD
21neurofibromatosis12.6SDHB, SDHD
22glomus tumor12.6SDHB, SDHD
23cranial nerve palsy12.4SDHC, SDHD
24nasopharynx carcinoma12.3SDHD, SDHC
25insulinoma12.2SDHB, SDHD
26neural crest tumor11.9SDHB, SDHC, SDHD
27familial medullary thyroid carcinoma11.9SDHD, SDHC, SDHB
28familial renal cell carcinoma11.9SDHB, SDHC, SDHD
29multiple endocrine neoplasia type 2a11.9SDHD, SDHC, SDHB
30wermer syndrome11.9SDHB, SDHC, SDHD
31adrenal adenoma11.9SDHB, SDHC, SDHD
32hemangioma11.9SDHD, SDHC, SDHB
33hyperparathyroidism11.8SDHD, SDHC, SDHB
34acute leukemia11.8SDHD, SDHC, SDHB
35huntington's disease11.8SDHB, SDHC, SDHD
36parkinson's disease11.7SDHB, SDHC, SDHD
37gastric cancer11.5SDHB, SDHC, SDHD
38sdhb-related paraganglioma and gastric stromal sarcoma9.6
39sdhc-related paraganglioma and gastric stromal sarcoma9.6
40sdhd-related paraganglioma and gastric stromal sarcoma9.6
41paragangliomas 48.4
42paragangliomas 18.1
43paragangliomas 28.1
44nonsyndromic paraganglioma8.0
45paragangliomas 38.0
46thyroiditis7.6
47carcinoma7.4
48sdhd-related hereditary paraganglioma-pheochromocytoma syndrome7.0
49duodenitis7.0
50hereditary paraganglioma-pheochromocytoma multi-gene panels7.0

Graphical network of the top 20 diseases related to paraganglioma and gastric stromal sarcoma:



Graphical network of diseases related to paraganglioma and gastric stromal sarcoma

Clinical Features for Paraganglioma and Gastric Stromal Sarcoma

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33OMIM
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Clinical features from OMIM: 606864

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

Search CenterWatch for paraganglioma and gastric stromal sarcoma

Drug clinical trials:

Search ClinicalTrials for paraganglioma and gastric stromal sarcoma

Search NIH Clinical Center for paraganglioma and gastric stromal sarcoma

Search CenterWatch for paraganglioma and gastric stromal sarcoma

Genetic Tests for Paraganglioma and Gastric Stromal Sarcoma

Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

Phenotypes for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Publications for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Expression for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Pathways for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Sources:
38Reactome, 20KEGG
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Pathways related to paraganglioma and gastric stromal sarcoma according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Citric acid cycle (TCA cycle)388.7SDHD, SDHC, SDHB
2Citrate cycle (TCA cycle)208.6SDHC, SDHB, SDHD
3Parkinsons disease208.6SDHD, SDHC, SDHB
4Oxidative phosphorylation208.5SDHD, SDHC, SDHB
5Metabolic pathways208.5SDHD, SDHC, SDHB
6Alzheimers disease208.4SDHB, SDHD, SDHC
7Huntingtons disease208.2SDHD, SDHC, SDHB

Compounds for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Sources:
32Novoseek , 9DrugBank, 18HMDB
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Compounds related to paraganglioma and gastric stromal sarcoma according to GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1mibg32 9.4SDHD, SDHB
2catecholamine32 9.0SDHD, SDHB
3Heme9 18 9 11.0SDHC, SDHD
4UBIQUINONE-19 9 9.8SDHD, SDHC, SDHB
52-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol9 9 9.7SDHB, SDHC, SDHD
6fumarate32 9 9 10.7SDHD, SDHC, SDHB
7iron-sulfur32 8.7SDHB, SDHD, SDHC
8Succinic acid9 18 9 10.7SDHD, SDHC, SDHB
9ubiquinone32 8.7SDHC, SDHB, SDHD
10succinate32 8.6SDHB, SDHC, SDHD
11iron32 18 9.5SDHD, SDHB, SDHC
12oxygen32 18 9.4SDHB, SDHD, SDHC

GO Terms for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Sources:
12Gene Ontology
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Cellular components related to paraganglioma and gastric stromal sarcoma according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.5SDHB, SDHC, SDHD
2mitochondrial respiratory chain complex IIGO:0057498.4SDHB, SDHC, SDHD
3mitochondrial inner membraneGO:0057438.2SDHB, SDHC, SDHD

Biological processes related to paraganglioma and gastric stromal sarcoma according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:0090608.8SDHC, SDHB
2tricarboxylic acid cycleGO:0060998.5SDHB, SDHC, SDHD
3small molecule metabolic processGO:0442818.5SDHB, SDHC, SDHD
4respiratory electron transport chainGO:0229048.4SDHD, SDHC, SDHB

Molecular functions related to paraganglioma and gastric stromal sarcoma according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:0480399.2SDHB, SDHD
2succinate dehydrogenase activityGO:0001049.0SDHC, SDHD
3heme bindingGO:0200379.0SDHC, SDHD
4electron carrier activityGO:0090558.2SDHB, SDHC, SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS