MCID: PRG017
MIFTS: 46

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:47 606864

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
See all sources

Paraganglioma and Gastric Stromal Sarcoma, Aliases & Descriptions:

Name: Paraganglioma and Gastric Stromal Sarcoma 47 11 43 49 24 62
Carney-Stratakis Syndrome 43 49
Gist-Paraganglioma Dyad 43 49
Carney-Stratakis Dyad 43 49
Carney Dyad 43 49
 
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 43
Paraganglioma and Gastrointestinal Stromal Tumor 43
Gastrointestinal Stromal Tumors 62
Paraganglioma and Gist 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
paraganglioma and gastric stromal sarcoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult


External Ids:

OMIM47 606864
Orphanet49 97286
ICD10 via Orphanet28 D44.8

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

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Diseases in the Paraganglioma and Gastric Stromal Sarcoma family:

Sdhb-Related Paraganglioma and Gastric Stromal Sarcoma Sdhd-Related Paraganglioma and Gastric Stromal Sarcoma
Sdhc-Related Paraganglioma and Gastric Stromal Sarcoma

Diseases related to Paraganglioma and Gastric Stromal Sarcoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1carney triad30.8SDHC, SDHD, SDHB
2paraganglioma30.8SDHB, SDHD, SDHC
3gastrointestinal stromal tumor30.7SDHB, SDHC
4chondroma30.5SDHC, SDHD, SDHB
5sarcoma10.6
6sdhb-related paraganglioma and gastric stromal sarcoma10.6
7sdhd-related paraganglioma and gastric stromal sarcoma10.6
8sdhc-related paraganglioma and gastric stromal sarcoma10.6
9familial colorectal cancer10.0SDHD, SDHB
10kidney cancer10.0SDHC, SDHB
11neurofibromatosis, type 210.0SDHD, SDHB
12glomus tumor10.0SDHB, SDHD
13nasopharyngeal carcinoma10.0SDHC, SDHD
14paragangliomas 1, with or without deafness10.0SDHB, SDHD, SDHC
15hereditary paraganglioma-pheochromocytoma syndromes10.0SDHB, SDHD, SDHC
16phaeochromocytoma10.0SDHC, SDHD, SDHB
17multiple endocrine neoplasia iia10.0SDHB, SDHD, SDHC
18von hippel-lindau syndrome10.0SDHB, SDHD, SDHC
19multiple endocrine neoplasia10.0SDHC, SDHD, SDHB
20multiple endocrine neoplasia 110.0SDHC, SDHD, SDHB
21neurofibromatosis10.0SDHC, SDHD, SDHB
22adrenal cortical adenoma10.0SDHB, SDHD, SDHC
23hyperparathyroidism10.0SDHB, SDHD, SDHC
24hemangioma10.0SDHC, SDHD, SDHB
25pheochromocytoma10.0SDHB, SDHD, SDHC

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:

 49 (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 Sarcoma24

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:

7
id Gene Variation 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
4SDHDNM_003002.3(SDHD): c.57delG (p.Leu20Cysfs)deletionPathogenicGRCh38Chr 11, 112087861: 112087861
5SDHCNM_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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5SDHC, SDHD, SDHB
2
Show member pathways
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
8.5SDHC, SDHD, SDHB
3
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.5SDHC, SDHD, SDHB
4
Show member pathways
8.5SDHC, SDHD, SDHB
5
Show member pathways
Alzheimers Disease38
8.5SDHB, SDHD, SDHC

Compounds for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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Sources:
45Novoseek, 26HMDB, 30IUPHAR, 13DrugBank
See all sources

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1mibg459.1SDHD, SDHB
2superoxide45 2610.1SDHC, SDHB
3heme30 26 1311.0SDHC, SDHD
4catecholamine458.9SDHB, SDHD
5Fumaric acid268.8SDHC, SDHD, SDHB
6fumarate45 139.8SDHC, SDHD, SDHB
7succinic acid30 26 1310.8SDHB, SDHD, SDHC
8iron-sulfur458.8SDHB, SDHD, SDHC
9ubiquinone458.8SDHC, SDHD, SDHB
10Sulfide268.8SDHB, SDHD, SDHC
11QH2268.7SDHC, SDHD, SDHB
12Ubiquinone Q2268.7SDHB, SDHD, SDHC
13Ubiquinone Q1268.7SDHC, SDHD, SDHB
14succinate458.7SDHB, SDHD, SDHC
15FAD268.7SDHC, SDHD, SDHB
16iron45 269.6SDHB, SDHD, SDHC
17oxygen45 269.5SDHC, 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/GeneDecks:

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/GeneDecks:

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/GeneDecks:

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet