MCID: PRG017
MIFTS: 40

Paraganglioma and Gastric Stromal Sarcoma malady

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

Summaries for Paraganglioma and Gastric Stromal Sarcoma

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MalaCards based summary: Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to carney triad and paraganglioma, and has symptoms including neoplasm of the stomach, sarcoma and neuroendocrine neoplasm. 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:45 606864

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Paraganglioma and Gastric Stromal Sarcoma, Aliases & Descriptions:

Name: Paraganglioma and Gastric Stromal Sarcoma 45 10 41 47 22 60
Carney-Stratakis Syndrome 41 47
Gist-Paraganglioma Dyad 41 47
Carney-Stratakis Dyad 41 47
 
Carney Dyad 41 47
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 41
Paraganglioma and Gastrointestinal Stromal Tumor 41
Paraganglioma and Gist 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
paraganglioma and gastric stromal sarcoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult


External Ids:

OMIM45 606864
Orphanet47 97286
ICD10 via Orphanet26 D44.8

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

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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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Clinical features from OMIM:

606864

Symptoms:

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

HPO human phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

(show all 10)
id Description Frequency HPO Source Accession
1 neoplasm of the stomach hallmark (90%) HP:0006753
2 sarcoma hallmark (90%) HP:0100242
3 neuroendocrine neoplasm hallmark (90%) HP:0100634
4 tinnitus typical (50%) HP:0000360
5 hearing impairment typical (50%) HP:0000365
6 abdominal pain typical (50%) HP:0002027
7 gastrointestinal hemorrhage typical (50%) HP:0002239
8 intestinal obstruction typical (50%) HP:0005214
9 cranial nerve paralysis typical (50%) HP:0006824
10 feeding difficulties in infancy typical (50%) HP:0008872

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

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Drug clinical trials:

Search ClinicalTrials for Paraganglioma and Gastric Stromal Sarcoma

Search NIH Clinical Center for Paraganglioma and Gastric Stromal Sarcoma

Genetic Tests for Paraganglioma and Gastric Stromal Sarcoma

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Genetic tests related to Paraganglioma and Gastric Stromal Sarcoma:

id Genetic test Affiliating Genes
1 Paraganglioma and Gastric Stromal Sarcoma22

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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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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Clinvar genetic disease variations for Paraganglioma and Gastric Stromal Sarcoma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SDHBSDHB, IVS1DS, G-T, +1single nucleotide variantPathogenic
2SDHBSDHB, IVS4DS, G-C, +1single nucleotide variantPathogenic
3SDHDNM_003002.3(SDHD): c.57delG (p.Leu20Cysfs)deletionPathogenicGRCh38Chr 11, 112087861: 112087861
4SDHCNM_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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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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Pathways related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5SDHC, SDHD, 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
8.5SDHC, SDHD, SDHB
3
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.5SDHC, SDHD, SDHB
4
Show member pathways
8.5SDHC, SDHD, SDHB
5
Show member pathways
Alzheimers Disease36
8.5SDHB, SDHD, SDHC

Compounds for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

(show all 17)
idCompoundScoreTop Affiliating Genes
1mibg439.1SDHD, SDHB
2superoxide43 2410.1SDHC, SDHB
3heme28 24 1211.0SDHC, SDHD
4catecholamine438.9SDHB, SDHD
5Fumaric acid248.8SDHC, SDHD, SDHB
6fumarate43 129.8SDHC, SDHD, SDHB
7succinic acid28 24 1210.8SDHB, SDHD, SDHC
8iron-sulfur438.8SDHB, SDHD, SDHC
9ubiquinone438.8SDHC, SDHD, SDHB
10Sulfide248.8SDHB, SDHD, SDHC
11QH2248.7SDHC, SDHD, SDHB
12Ubiquinone Q2248.7SDHB, SDHD, SDHC
13Ubiquinone Q1248.7SDHC, SDHD, SDHB
14succinate438.7SDHB, SDHD, SDHC
15FAD248.7SDHC, SDHD, SDHB
16iron43 249.6SDHB, SDHD, SDHC
17oxygen43 249.5SDHC, SDHD, SDHB

GO Terms for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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Cellular components related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.5SDHC, SDHD, SDHB
2mitochondrial respiratory chain complex IIGO:00057498.4SDHC, SDHD, SDHB
3mitochondrial inner membraneGO:00057438.2SDHC, SDHD, SDHB

Biological processes related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:00090608.8SDHC, SDHB
2tricarboxylic acid cycleGO:00060998.6SDHC, SDHD, SDHB
3respiratory electron transport chainGO:00229048.5SDHC, SDHD, SDHB
4small molecule metabolic processGO:00442818.5SDHC, SDHD, SDHB
5cellular metabolic processGO:00442378.4SDHB, SDHD, SDHC

Molecular functions related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase activityGO:00001049.3SDHC, SDHD
2heme bindingGO:00200379.0SDHC, SDHD
3ubiquinone bindingGO:00480398.9SDHB, SDHD
4electron carrier activityGO:00090558.6SDHC, SDHD, SDHB
5metal ion bindingGO:00468728.5SDHC, SDHD, SDHB

Products for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Paraganglioma and Gastric Stromal Sarcoma

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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