MCID: PRG017
MIFTS: 43

Paraganglioma and Gastric Stromal Sarcoma malady

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

Summaries for Paraganglioma and Gastric Stromal Sarcoma

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48OMIM, 34MalaCards
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MalaCards: Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to carney triad and paraganglioma, and has symptoms including estomach/gastric neoplasm/tumor/carcinoma/cancer, intestinal perforation and intestinal obstruction/ileus. 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Citric acid cycle (TCA cycle). The compounds mibg and superoxide have been mentioned in the context of this disorder.

Description from OMIM:48 606864

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

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63UMLS, 44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
paraganglioma and gastric stromal sarcoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

paraganglioma and gastric stromal sarcoma 44 23 48 50 63
carney-stratakis syndrome 44 50
carney dyad 44 50
carney-stratakis dyad of paraganglioma and gastric stromal sarcoma 44
paraganglioma and gastrointestinal stromal tumor 44
gastrointestinal stromal tumors 63
gist-paraganglioma dyad 50
paraganglioma and gist 44
carney-stratakis dyad 50


External Ids:

OMIM48 606864
ICD10 via Orphanet27 D44.8

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Paraganglioma and Gastric Stromal Sarcoma:



Diseases related to paraganglioma and gastric stromal sarcoma

Symptoms for Paraganglioma and Gastric Stromal Sarcoma

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48OMIM, 50Orphanet
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Clinical features from OMIM:

606864

Symptoms:

50 (show all 12)
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • intestinal perforation
  • intestinal obstruction/ileus
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • acute abdominal pain/colic
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hearing loss/hypoacusia/deafness
  • tinnitus
  • autosomal dominant inheritance
  • sarcoma
  • pheochromocytoma/paraganglioma
  • cranial nerves palsy

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Paraganglioma and Gastric Stromal Sarcoma

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23GTR
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Genetic tests related to Paraganglioma and Gastric Stromal Sarcoma:

id Genetic test Affiliating Genes
1 Paraganglioma and Gastric Stromal Sarcoma23

Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

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Animal Models for Paraganglioma and Gastric Stromal Sarcoma or affiliated genes

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Publications for Paraganglioma and Gastric Stromal Sarcoma

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53PubMed
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Articles related to Paraganglioma and Gastric Stromal Sarcoma:

idTitleAuthorsYear
1
The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. (19522824)
2009
2
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)
2002

Variations for Paraganglioma and Gastric Stromal Sarcoma

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Paraganglioma and Gastric Stromal Sarcoma:

1
id Gene Name Type Significance SNP ID Assembly Location
1SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
2SDHBSDHB, IVS1DS, G-T, +1single nucleotide variantPathogenic
3SDHBSDHB, IVS4DS, G-C, +1single nucleotide variantPathogenic
4PDGFRANM_006206.4(PDGFRA): c.1682T> A (p.Val561Asp)single nucleotide variantPathogenicrs121908586GRCh37Chr 4, 55141036: 55141036
5SDHDNM_003002.3(SDHD): c.57delG (p.Leu20Cysfs)deletionPathogenicGRCh38Chr 11, 112087861: 112087861
6SDHCNM_003001.3(SDHC): c.405+1G> Asingle nucleotide variantPathogenicGRCh37Chr 1, 161326631: 161326631

Expression for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Search GEO for disease gene expression data for Paraganglioma and Gastric Stromal Sarcoma.

Pathways for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5SDHC, SDHD, SDHB
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
8.5SDHC, SDHD, SDHB
3
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.5SDHC, SDHD, SDHB
4
Show member pathways
8.5SDHC, SDHD, SDHB
5
Show member pathways
Alzheimers Disease39
8.5SDHB, SDHD, SDHC

Compounds for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
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Compounds related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1mibg469.1SDHD, SDHB
2superoxide46 2510.1SDHC, SDHB
3heme30 25 1211.0SDHC, SDHD
4catecholamine468.9SDHB, SDHD
5Fumaric acid258.8SDHC, SDHD, SDHB
6fumarate46 129.8SDHC, SDHD, SDHB
7succinic acid30 25 1210.8SDHB, SDHD, SDHC
8iron-sulfur468.8SDHB, SDHD, SDHC
9ubiquinone468.8SDHC, SDHD, SDHB
10Sulfide258.8SDHB, SDHD, SDHC
11QH2258.7SDHC, SDHD, SDHB
12Ubiquinone Q2258.7SDHB, SDHD, SDHC
13Ubiquinone Q1258.7SDHC, SDHD, SDHB
14succinate468.7SDHB, SDHD, SDHC
15FAD258.7SDHC, SDHD, SDHB
16iron46 259.6SDHB, SDHD, SDHC
17oxygen46 259.5SDHC, SDHD, SDHB

GO Terms for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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17Gene Ontology
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Cellular components related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards/GeneDecks:

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

Biological processes related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:0090608.8SDHC, SDHB
2tricarboxylic acid cycleGO:0060998.6SDHC, SDHD, SDHB
3respiratory electron transport chainGO:0229048.5SDHC, SDHD, SDHB
4small molecule metabolic processGO:0442818.5SDHC, SDHD, SDHB
5cellular metabolic processGO:0442378.4SDHB, SDHD, SDHC

Molecular functions related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:0001049.3SDHC, SDHD
2heme bindingGO:0200379.0SDHC, SDHD
3ubiquinone bindingGO:0480398.9SDHB, SDHD
4electron carrier activityGO:0090558.6SDHC, SDHD, SDHB
5metal ion bindingGO:0468728.5SDHC, SDHD, SDHB

Products for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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Sources for Paraganglioma and Gastric Stromal Sarcoma

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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