MCID: PRG017
MIFTS: 44

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 paraganglioma and carney triad, 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:46 606864

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

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Sources:
61UMLS, 42NIH Rare Diseases, 23GTR, 46OMIM, 48Orphanet, 27ICD10 via Orphanet
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Paraganglioma and Gastric Stromal Sarcoma, Aliases & Descriptions:

Name: Paraganglioma and Gastric Stromal Sarcoma 42 23 46 48 61
Carney-Stratakis Syndrome 42 48
Carney Dyad 42 48
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 42
Paraganglioma and Gastrointestinal Stromal Tumor 42
 
Gastrointestinal Stromal Tumors 61
Gist-Paraganglioma Dyad 48
Paraganglioma and Gist 42
Carney-Stratakis Dyad 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
paraganglioma and gastric stromal sarcoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 606864
ICD10 via Orphanet27 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:

 48 (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 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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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 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
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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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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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 cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
8.5SDHC, SDHD, SDHB
3
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.5SDHC, SDHD, SDHB
4
Show member pathways
8.5SDHC, SDHD, SDHB
5
Show member pathways
Alzheimers Disease37
8.5SDHB, SDHD, SDHC

Compounds for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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Sources:
44Novoseek, 25HMDB, 29IUPHAR, 12DrugBank
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Compounds related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1mibg449.1SDHD, SDHB
2superoxide44 2510.1SDHC, SDHB
3heme29 25 1211.0SDHC, SDHD
4catecholamine448.9SDHB, SDHD
5Fumaric acid258.8SDHC, SDHD, SDHB
6fumarate44 129.8SDHC, SDHD, SDHB
7succinic acid29 25 1210.8SDHB, SDHD, SDHC
8iron-sulfur448.8SDHB, SDHD, SDHC
9ubiquinone448.8SDHC, SDHD, SDHB
10Sulfide258.8SDHB, SDHD, SDHC
11QH2258.7SDHC, SDHD, SDHB
12Ubiquinone Q2258.7SDHB, SDHD, SDHC
13Ubiquinone Q1258.7SDHC, SDHD, SDHB
14succinate448.7SDHB, SDHD, SDHC
15FAD258.7SDHC, SDHD, SDHB
16iron44 259.6SDHB, SDHD, SDHC
17oxygen44 259.5SDHC, 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: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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Paraganglioma and Gastric Stromal Sarcoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet