MCID: PRG017
MIFTS: 40

Paraganglioma and Gastric Stromal Sarcoma malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

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Aliases & Descriptions for Paraganglioma and Gastric Stromal Sarcoma:

Name: Paraganglioma and Gastric Stromal Sarcoma 50 46 52 68 25 12 66
Carney-Stratakis Syndrome 46 52 68
Carney Dyad 46 52
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 46
Paraganglioma and Gastrointestinal Stromal Tumor 46
 
Gist-Paraganglioma Dyad 52
Paraganglioma and Gist 46
Carney-Stratakis Dyad 52
Pggss 68

Characteristics:

Orphanet epidemiological data:

52
paraganglioma and gastric stromal sarcoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

OMIM50 606864
Orphanet52 ORPHA97286
ICD10 via Orphanet29 D44.8
MedGen35 C1847319

Summaries for Paraganglioma and Gastric Stromal Sarcoma

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UniProtKB/Swiss-Prot:68 Paraganglioma and gastric stromal sarcoma: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.

MalaCards based summary: Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to gastrointestinal stromal tumor and paraganglioma, and has symptoms including neoplasm of the stomach, sarcoma and tinnitus. An important gene associated with Paraganglioma and Gastric Stromal Sarcoma is SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Alzheimer's disease.

Description from OMIM:50 606864

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

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal stromal tumor30.2SDHA, SDHB, SDHC, SDHD
2paraganglioma29.1SDHB, SDHC, SDHD
3sdhb-related paraganglioma and gastric stromal sarcoma12.3
4sdhc-related paraganglioma and gastric stromal sarcoma12.3
5sdhd-related paraganglioma and gastric stromal sarcoma12.3
6carney triad10.2
7sarcoma10.2
8chondroma10.0
9salpingo-oophoritis10.0SDHA, SDHD
10pancreatitis, pediatric9.9SDHC, SDHD
11thyroid crisis9.9SDHA, SDHD
12mental retardation with spastic paraplegia9.8SDHA, SDHD
13cowden syndrome 29.8SDHA, SDHB
14paragangliomas 59.8SDHA, SDHB
15retinoschisis autosomal dominant9.8SDHB, SDHD
16albinism, oculocutaneous, type iv9.8SDHA, SDHB
17paragangliomas 49.8SDHA, SDHB
18ameloblastoma9.7SDHB, SDHD
19large cell medulloblastoma9.7SDHA, SDHB
20pediatric infratentorial ependymoma9.5SDHB, SDHD
21immunodeficiency, common variable, 59.4SDHB, SDHD
22torticollis, familial9.3SDHB, SDHC, SDHD
23carcinoid tumors, intestinal9.3SDHB, SDHC, SDHD
24seminal vesicle cystadenoma9.3SDHB, SDHC, SDHD
25uterine corpus endometrial carcinoma9.3SDHB, SDHC, SDHD
26sporadic secreting paraganglioma9.3SDHB, SDHC, SDHD
27neurofibromatosis-noonan syndrome9.2SDHB, SDHC, SDHD
28richter's syndrome9.2SDHB, SDHC, SDHD
29in situ carcinoma9.2SDHB, SDHD
30lipoma of the rectum9.2SDHB, SDHC, SDHD
31von hippel-lindau syndrome9.2SDHB, SDHC, SDHD
32leigh syndrome9.1SDHA, SDHB, SDHD
33neuroendocrine carcinoma of the cervix8.8SDHA, SDHB, SDHC, SDHD
34paraganglioma and gastric stromal sarcoma8.8SDHA, SDHB, SDHC, SDHD
35lung abscess8.8SDHA, SDHB, SDHC, SDHD
36mercaptolactate-cysteine disulfiduria8.8SDHA, SDHB, SDHC, SDHD
37hidrotic ectodermal dysplasia 28.8SDHA, SDHB, SDHC, SDHD
38steroid-induced glaucoma8.8SDHA, SDHB, SDHC, SDHD
39glycogen storage disease ib8.8SDHA, SDHB, SDHC, SDHD
40opitz-gbbb syndrome8.8SDHA, SDHB, SDHC, SDHD
41endocrine gland cancer8.8SDHA, SDHB, SDHC, SDHD
42tumor predisposition syndrome8.8SDHA, SDHB, SDHC, SDHD
43pheochromocytoma8.7SDHA, SDHB, SDHC, SDHD

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:

 52 (show all 10)
  • tinnitus
  • hearing impairment
  • weight loss
  • dysphagia
  • abdominal pain
  • gastrointestinal hemorrhage
  • paraganglioma
  • intestinal obstruction
  • cranial nerve paralysis
  • gastrointestinal stroma tumor

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 tinnitus typical (50%) HP:0000360
4 hearing impairment typical (50%) HP:0000365
5 abdominal pain typical (50%) HP:0002027
6 gastrointestinal hemorrhage typical (50%) HP:0002239
7 intestinal obstruction typical (50%) HP:0005214
8 cranial nerve paralysis typical (50%) HP:0006824
9 feeding difficulties in infancy typical (50%) HP:0008872
10 paraganglioma HP:0002668

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

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Drugs for Paraganglioma and Gastric Stromal Sarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
nivolumab254946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab

Interventional clinical trials:

idNameStatusNCT IDPhase
1Nivolumab and Ipilimumab in Treating Patients With Rare TumorsNot yet recruitingNCT02834013

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 Sarcoma25

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:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHBSDHB, IVS1DS, G-T, +1single nucleotide variantPathogenic
2SDHBSDHB, IVS4DS, G-C, +1single nucleotide variantPathogenic
3SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)single nucleotide variantLikely pathogenic, Pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
4SDHBNM_003000.2(SDHB): c.126delT (p.Phe42Leufs)deletionPathogenicrs878854572GRCh38Chr 1, 17044835: 17044835
5SDHBNM_003000.2(SDHB): c.201-2A> Csingle nucleotide variantLikely pathogenicrs878854574GRCh37Chr 1, 17359642: 17359642
6SDHDNM_003002.3(SDHD): c.-84-?_*831+?deldeletionPathogenic
7SDHDNM_003002.3(SDHD): c.10dupC (p.Leu4Profs)duplicationPathogenicrs878854589GRCh37Chr 11, 111957641: 111957641
8SDHDNM_003002.3(SDHD): c.173delG (p.Gly58Alafs)deletionPathogenicrs878854590GRCh38Chr 11, 112088870: 112088870
9SDHDNM_003002.3(SDHD): c.242delC (p.Pro81Argfs)deletionPathogenicrs878854591GRCh38Chr 11, 112088939: 112088939
10SDHDNM_003002.3(SDHD): c.361C> T (p.Gln121Ter)single nucleotide variantLikely pathogenicrs878854594GRCh37Chr 11, 111965575: 111965575
11SDHBNM_003000.2(SDHB): c.423+1G> Asingle nucleotide variantPathogenicrs398122805GRCh37Chr 1, 17355094: 17355094
12SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
13SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
14SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
15SDHDNM_003002.3(SDHD): c.57delG (p.Leu20Cysfs)deletionPathogenicrs587776649GRCh38Chr 11, 112087861: 112087861
16SDHCNM_003001.3(SDHC): c.405+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587776653GRCh37Chr 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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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
1respiratory chain complex IIGO:00452739.8SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057498.7SDHA, SDHB, SDHC, SDHD
3mitochondrionGO:00057398.0SDHA, SDHB, SDHC, SDHD
4mitochondrial inner membraneGO:00057437.9SDHA, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00061059.8SDHA, SDHB
2respiratory electron transport chainGO:00229049.8SDHA, SDHB
3aerobic respirationGO:00090609.2SDHB, SDHC
4tricarboxylic acid cycleGO:00060998.0SDHA, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:000817710.0SDHA, SDHB
2ubiquinone bindingGO:00480399.0SDHB, SDHD
3succinate dehydrogenase activityGO:00001049.0SDHA, SDHC, SDHD
4heme bindingGO:00200378.9SDHC, SDHD
5electron carrier activityGO:00090558.5SDHB, SDHC, SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet