MCID: PRG017
MIFTS: 39

Paraganglioma and Gastric Stromal Sarcoma malady

Endocrine, Cancer, Gastrointestinal categories

Summaries for Paraganglioma and Gastric Stromal Sarcoma

Sources:
47OMIM, 33MalaCards
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MalaCards: Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to neurofibromatosis and carney triad, and has symptoms including feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia, autosomal dominant inheritance and hearing loss/hypoacusia/deafness. 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:47 606864

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
paraganglioma and gastric stromal sarcoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

paraganglioma and gastric stromal sarcoma 43 22 47 49 61
carney-stratakis syndrome 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 61
gist-paraganglioma dyad 49
paraganglioma and gist 43
carney-stratakis dyad 49


External Ids:

OMIM47 606864
ICD10 via Orphanet26 D44.8

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Paraganglioma and Gastric Stromal Sarcoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis31.2SDHD, SDHB
2carney triad30.7SDHB, SDHC, SDHD
3paraganglioma30.7SDHB, SDHC, SDHD, SDHA
4pheochromocytoma30.6SDHB, SDHD
5gastrointestinal stromal tumor30.4SDHA, SDHB, SDHC
6multiple endocrine neoplasia30.1SDHD, SDHB, SDHC
7adenocarcinoma10.7
8gastrointestinal stromal tumor, familial10.7
9sdhb-related paraganglioma and gastric stromal sarcoma10.6
10sdhd-related paraganglioma and gastric stromal sarcoma10.6
11sdhc-related paraganglioma and gastric stromal sarcoma10.6
12fibromatosis10.6
13intussusception10.6
14smooth muscle tumor10.5
15meckel's diverticulum10.5
16gastrointestinal lymphoma10.5
17hypoglycemia10.5
18gastrointestinal adenoma10.4
19adenoma10.4
20desmoid tumor10.4
21gastrointestinal stromal tumor, somatic10.4
22papillary carcinoma10.4
23papillary renal cell carcinoma10.4
24somatostatinoma10.4
25papillary renal carcinoma10.4
26crohn's disease10.3
27acute pancreatitis10.3
28neuroendocrine carcinoma10.3
29renal clear cell carcinoma10.3
30acute myeloid leukemia10.3
31familial adenomatous polyposis10.3
32granular cell tumor10.3
33gynecomastia10.3
34hyperinsulinemic hypoglycemia10.3
35mantle cell lymphoma10.3
36n syndrome10.3
37acute leukemia10.3
38stomach disease10.3
39clear cell renal cell carcinoma10.3
40rhabdoid tumor10.3
41hypoxia10.3
42bacteremia10.3
43gallbladder leiomyoma10.1
44perivascular epithelioid cell tumor10.1
45polycythemia vera10.1
46rectum leiomyoma10.1
47prostate stromal sarcoma10.1
48rosacea10.1
49extrahepatic cholestasis10.1
50acanthosis nigricans10.1

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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

606864

Symptoms:

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

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Animal Models for Paraganglioma and Gastric Stromal Sarcoma or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Paraganglioma and Gastric Stromal Sarcoma

Genetic Variations for Paraganglioma and Gastric Stromal Sarcoma

Expression for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Sources:
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone45 1110.3SDHA, SDHB
2mibg459.2SDHD, SDHB
3nad+459.1SDHA, SDHB
4glyceraldehyde 3-phosphate459.1SDHA, SDHB
5catecholamine459.0SDHD, SDHB
6heme29 11 2411.0SDHD, SDHC
7fumarate45 119.7SDHC, SDHB, SDHD
8UBIQUINONE-1118.3SDHD, SDHB, SDHC, SDHA
92-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol118.3SDHA, SDHC, SDHD, SDHB
10succinic acid29 11 2410.3SDHB, SDHC, SDHA, SDHD
11iron-sulfur458.2SDHD, SDHB, SDHA, SDHC
12ubiquinone458.2SDHD, SDHB, SDHA, SDHC
13succinate458.2SDHB, SDHD, SDHC, SDHA
14iron45 249.2SDHA, SDHD, SDHB, SDHC
15oxygen45 249.1SDHC, SDHD, SDHB, SDHA

GO Terms for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.0SDHD, SDHB, SDHC, SDHA
2mitochondrial respiratory chain complex IIGO:0057497.9SDHD, SDHB, SDHC, SDHA
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:0061059.1SDHB, SDHA
3aerobic respirationGO:0090608.9SDHB, SDHC
4tricarboxylic acid cycleGO:0060998.1SDHA, SDHC, SDHB, SDHD
5respiratory electron transport chainGO:0229048.1SDHD, SDHB, SDHC, SDHA
6cellular metabolic processGO:0442378.1SDHD, SDHA, SDHC, SDHB
7small molecule metabolic processGO:0442817.7SDHA, SDHC, SDHB, SDHD

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Paraganglioma and Gastric Stromal Sarcoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet