PGGSS
MCID: PRG017
MIFTS: 40

Paraganglioma and Gastric Stromal Sarcoma (PGGSS) 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 52 48 54 70 27 12 68
Carney-Stratakis Syndrome 48 54 70
Carney Dyad 48 54
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 48
Paraganglioma and Gastrointestinal Stromal Tumor 48
 
Gist-Paraganglioma Dyad 54
Paraganglioma and Gist 48
Carney-Stratakis Dyad 54
Pggss 70

Characteristics:

Orphanet epidemiological data:

54
paraganglioma and gastric stromal sarcoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

OMIM52 606864
Orphanet54 ORPHA97286
ICD10 via Orphanet31 D44.8
MedGen37 C1847319

Summaries for Paraganglioma and Gastric Stromal Sarcoma

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UniProtKB/Swiss-Prot:70 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 sdhb-related paraganglioma and gastric stromal sarcoma, and has symptoms including Array, Array and Array. An important gene associated with Paraganglioma and Gastric Stromal Sarcoma is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Carbon metabolism. Related mouse phenotype Increased shRNA abundance (Z-score > 2).

Description from OMIM:52 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal stromal tumor31.4SDHB, SDHC, SDHD
2sdhb-related paraganglioma and gastric stromal sarcoma12.2
3sdhc-related paraganglioma and gastric stromal sarcoma12.2
4sdhd-related paraganglioma and gastric stromal sarcoma12.2
5carney triad10.1
6paraganglioma10.1
7sarcoma10.1
8chondroma9.9
9catastrophic antiphospholipid syndrome9.9SDHB, SDHD
10acrocapitofemoral dysplasia9.9SDHB, SDHD
11aneurysm9.9SDHB, SDHC
12bone ameloblastoma9.9SDHB, SDHD
13glomangioma9.9SDHB, SDHD
14central hypoventilation syndrome, congenital9.9SDHB, SDHD
15lumbar spinal canal and spinal cord meningioma9.8SDHB, SDHD
16leukemia, acute promyelocytic, somatic9.8SDHB, SDHD
17seborrheic dermatitis9.8SDHB, SDHD
18neuropathy, congenital, with arthrogryposis multiplex9.7SDHB, SDHC, SDHD
19intravenous leiomyomatosis9.7SDHB, SDHC, SDHD
20endocervical adenocarcinoma9.7SDHB, SDHC, SDHD
21glioma susceptibility 29.7SDHB, SDHC, SDHD
22amaurosis congenita, cone-rod type, with congenital hypertrichosis9.7SDHB, SDHC, SDHD
23serous surface papilloma9.7SDHB, SDHC, SDHD
24cardiac arrest9.7SDHB, SDHC, SDHD
25cowden syndrome 39.7SDHB, SDHC, SDHD
26glycogen storage disease ic9.7SDHB, SDHC, SDHD
27non-syndromic male infertility due to sperm motility disorder9.7SDHB, SDHC, SDHD
28neurofibromatosis-noonan syndrome9.7SDHB, SDHC, SDHD
29isolated methylmalonic acidemia9.7SDHB, SDHC, SDHD
30non-syndromic x-linked intellectual disability9.7SDHB, SDHC, SDHD
31carotenemia9.7SDHB, SDHC, SDHD
32zollinger-ellison syndrome9.7SDHB, SDHC, SDHD
33childhood teratocarcinoma of the testis9.7SDHB, SDHC, SDHD
34erythrocytosis, familial, 29.7SDHB, SDHC, SDHD
35benign shuddering attacks9.7SDHB, SDHC, SDHD
36pheochromocytoma9.7SDHB, SDHC, SDHD
37bjornstad syndrome9.7SDHB, SDHD

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



Diseases related to paraganglioma and gastric stromal sarcoma

Symptoms & Phenotypes for Paraganglioma and Gastric Stromal Sarcoma

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Clinical features from OMIM:

606864

Human phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

 54 64 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tinnitus64 54 Frequent (79-30%) HP:0000360
2 hearing impairment64 54 Frequent (79-30%) HP:0000365
3 weight loss64 54 Frequent (79-30%) HP:0001824
4 dysphagia64 54 Frequent (79-30%) HP:0002015
5 abdominal pain64 54 Frequent (79-30%) HP:0002027
6 gastrointestinal hemorrhage64 54 Frequent (79-30%) HP:0002239
7 paraganglioma64 54 Very frequent (99-80%) HP:0002668
8 intestinal obstruction64 54 Frequent (79-30%) HP:0005214
9 cranial nerve paralysis64 54 Frequent (79-30%) HP:0006824
10 gastrointestinal stroma tumor64 54 Very frequent (99-80%) HP:0100723
11 neoplasm of the gastrointestinal tract64 HP:0007378

GenomeRNAi Phenotypes related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.3SDHC, SDHD

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
nivolumabapprovedPhase 2424946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
2ImmunoglobulinsPhase 26394
3Antibodies, MonoclonalPhase 24039
4AntibodiesPhase 26394

Interventional clinical trials:

idNameStatusNCT IDPhase
1Nivolumab and Ipilimumab in Treating Patients With Rare TumorsRecruitingNCT02834013Phase 2

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 Sarcoma27

Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

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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
id Gene Variation Type Significance SNP ID Assembly Location
1SDHBSDHB, IVS1DS, G-T, +1SNVPathogenic
2SDHBSDHB, IVS4DS, G-C, +1SNVPathogenic
3SDHDNM_ 003002.3(SDHD): c.10dupC (p.Leu4Profs)duplicationPathogenicrs878854589GRCh37Chr 11, 111957641: 111957641
4SDHDNM_ 003002.3(SDHD): c.173delG (p.Gly58Alafs)deletionPathogenicrs878854590GRCh38Chr 11, 112088870: 112088870
5SDHDNM_ 003002.3(SDHD): c.242delC (p.Pro81Argfs)deletionPathogenicrs878854591GRCh38Chr 11, 112088939: 112088939
6SDHDNM_ 003002.3(SDHD): c.361C> T (p.Gln121Ter)SNVLikely pathogenicrs878854594GRCh38Chr 11, 112094851: 112094851
7SDHDNM_ 003002.3(SDHD): c.112C> T (p.Arg38Ter)SNVPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
8SDHDNM_ 003002.3(SDHD): c.274G> T (p.Asp92Tyr)SNVPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
9SDHDNM_ 003002.3(SDHD): c.57delG (p.Leu20Cysfs)deletionPathogenicrs587776649GRCh38Chr 11, 112087861: 112087861
10SDHCNM_ 003001.3(SDHC): c.405+1G> ASNVPathogenic/ Likely 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
1mitochondrial inner membraneGO:00057439.2SDHB, SDHC, SDHD
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057499.2SDHB, SDHC, SDHD
3respiratory chain complex IIGO:00452739.1SDHB, SDHC
4mitochondrionGO:00057398.4SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:00090609.8SDHB, SDHC
2oxidation-reduction processGO:00551148.9SDHB, SDHC, SDHD
3tricarboxylic acid cycleGO:00060998.5SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:00200379.6SDHC, SDHD
2succinate dehydrogenase activityGO:00001049.5SDHC, SDHD
3succinate dehydrogenase (ubiquinone) activityGO:00081779.3SDHB, SDHD
4electron carrier activityGO:00090559.1SDHB, SDHC, SDHD
5ubiquinone bindingGO:00480399.0SDHB, SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet