MCID: PRG017
MIFTS: 44

Paraganglioma and Gastric Stromal Sarcoma malady

Endocrine diseases, Cancer diseases, Gastrointestinal diseases categories

Summaries for Paraganglioma and Gastric Stromal Sarcoma

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46OMIM, 32MalaCards
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MalaCards: Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to neurofibromatosis 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 Carbon metabolism. The compounds thenoyltrifluoroacetone and mibg 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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42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Endocrine diseases, Gastrointestinal diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

paraganglioma and gastric stromal sarcoma 42 22 46 48 60
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 60
gist-paraganglioma dyad 48
paraganglioma and gist 42
carney-stratakis dyad 48


External Ids:

OMIM46 606864
ICD10 via Orphanet26 D44.8

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

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17GeneCards, 18GeneDecks
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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 top 50)    (show all 178)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis31.1SDHD, SDHB
2paraganglioma30.7SDHB, SDHC, SDHD, SDHA
3pheochromocytoma30.5SDHB, SDHD
4chondroma30.5SDHD, SDHB, SDHC
5gastrointestinal stromal tumor30.4SDHA, SDHB, SDHC
6glomus tumor30.1SDHB, SDHD
7breast cancer30.1SDHB, SDHC
8duodenitis10.7
9adenocarcinoma10.7
10leiomyoma10.7
11esophagitis10.6
12leiomyosarcoma10.6
13pancreatitis10.6
14sdhb-related paraganglioma and gastric stromal sarcoma10.6
15sdhd-related paraganglioma and gastric stromal sarcoma10.6
16sdhc-related paraganglioma and gastric stromal sarcoma10.6
17intussusception10.5
18gastric adenocarcinoma10.5
19leukemia10.5
20sarcoma10.5
21smooth muscle tumor10.5
22gastrointestinal lymphoma10.5
23hypoglycemia10.5
24prostatitis10.5
25meckel's diverticulum10.4
26gastrointestinal neuroendocrine tumor10.4
27neuroendocrine tumor10.4
28peritonitis10.4
29renal cell carcinoma10.4
30hepatitis a10.4
31hepatitis10.4
32myeloid leukemia10.4
33papillary carcinoma10.3
34papillary renal cell carcinoma10.3
35somatostatinoma10.3
36giant cell tumor10.3
37melanoma10.3
38crohn's disease10.2
39acute pancreatitis10.2
40neuroendocrine carcinoma10.2
41renal clear cell carcinoma10.2
42acute myeloid leukemia10.2
43familial adenomatous polyposis10.2
44granular cell tumor10.2
45gastrointestinal adenoma10.2
46gynecomastia10.2
47gastroduodenitis10.2
48hyperinsulinemic hypoglycemia10.2
49mantle cell lymphoma10.2
50acute leukemia10.2

Graphical network of the top 20 diseases related to Paraganglioma and Gastric Stromal Sarcoma:



Diseases related to paraganglioma and gastric stromal sarcoma

Clinical Features for Paraganglioma and Gastric Stromal Sarcoma

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

606864

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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22GTR
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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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Genetic Variations for Paraganglioma and Gastric Stromal Sarcoma

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Expression for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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1BioGPS, 15Gene 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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Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1110.3SDHA, SDHB
2mibg449.2SDHB, SDHD
3nad+449.1SDHA, SDHB
4glyceraldehyde 3-phosphate449.1SDHA, SDHB
5catecholamine449.0SDHD, SDHB
6heme28 11 2411.0SDHC, SDHD
7fumarate44 119.7SDHC, SDHB, SDHD
8UBIQUINONE-1118.3SDHA, SDHC, SDHB, SDHD
92-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol118.3SDHD, SDHB, SDHC, SDHA
10succinic acid28 11 2410.3SDHD, SDHB, SDHC, SDHA
11iron-sulfur448.2SDHD, SDHB, SDHC, SDHA
12ubiquinone448.2SDHD, SDHB, SDHC, SDHA
13succinate448.2SDHD, SDHB, SDHC, SDHA
14iron44 249.2SDHD, SDHB, SDHC, SDHA
15oxygen44 249.1SDHD, SDHB, SDHC, SDHA

GO Terms for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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16Gene Ontology
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Cellular components related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.0SDHA, SDHC, SDHB, SDHD
2mitochondrial respiratory chain complex IIGO:0057497.9SDHA, SDHC, SDHB, SDHD
3mitochondrial inner membraneGO:0057437.7SDHD, SDHB, SDHC, SDHA

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1oxidation-reduction processGO:0551149.3SDHA, SDHC
2succinate metabolic processGO:0061059.1SDHA, SDHB
3aerobic respirationGO:0090608.9SDHC, SDHB
4tricarboxylic acid cycleGO:0060998.1SDHA, SDHC, SDHB, SDHD
5respiratory electron transport chainGO:0229048.1SDHD, SDHB, SDHC, SDHA
6cellular metabolic processGO:0442378.1SDHD, SDHB, SDHC, SDHA
7small molecule metabolic processGO:0442817.7SDHD, SDHB, SDHC, SDHA

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:0200379.3SDHC, SDHD
2succinate dehydrogenase (ubiquinone) activityGO:0081779.1SDHA, SDHB
3ubiquinone bindingGO:0480399.0SDHB, SDHD
4electron carrier activityGO:0090558.2SDHC, SDHB, SDHD

Products for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Paraganglioma and Gastric Stromal Sarcoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet