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

About this section

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

About this section
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 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 Carbon metabolism. Related mouse phenotype Increased shRNA abundance (Z-score > 2).

Description from OMIM:52 606864

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

About this section

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 32)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal stromal tumor30.7SDHB, 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
6sarcoma10.1
7chondroma9.9
8pancreatitis, pediatric9.7SDHC, SDHD
9retinoschisis autosomal dominant9.6SDHB, SDHD
10ameloblastoma9.6SDHB, SDHD
11pediatric infratentorial ependymoma9.5SDHB, SDHD
12immunodeficiency, common variable, 59.5SDHB, SDHD
13in situ carcinoma9.4SDHB, SDHD
14torticollis, familial9.3SDHB, SDHC, SDHD
15neuroendocrine carcinoma of the cervix9.3SDHB, SDHC, SDHD
16carcinoid tumors, intestinal9.3SDHB, SDHC, SDHD
17seminal vesicle cystadenoma9.3SDHB, SDHC, SDHD
18uterine corpus endometrial carcinoma9.3SDHB, SDHC, SDHD
19lung abscess9.3SDHB, SDHC, SDHD
20mercaptolactate-cysteine disulfiduria9.3SDHB, SDHC, SDHD
21sporadic secreting paraganglioma9.3SDHB, SDHC, SDHD
22hidrotic ectodermal dysplasia 29.3SDHB, SDHC, SDHD
23steroid-induced glaucoma9.3SDHB, SDHC, SDHD
24glycogen storage disease ib9.3SDHB, SDHC, SDHD
25neurofibromatosis-noonan syndrome9.3SDHB, SDHC, SDHD
26richter's syndrome9.3SDHB, SDHC, SDHD
27lipoma of the rectum9.3SDHB, SDHC, SDHD
28endocrine gland cancer9.2SDHB, SDHC, SDHD
29tumor predisposition syndrome9.2SDHB, SDHC, SDHD
30von hippel-lindau syndrome9.2SDHB, SDHC, SDHD
31leigh syndrome9.2SDHB, SDHD
32pheochromocytoma9.2SDHB, 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 & Phenotypes for Paraganglioma and Gastric Stromal Sarcoma

About this section


Clinical features from OMIM:

606864

Human phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

 64 54 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neoplasm of the stomach64 hallmark (90%) HP:0006753
2 sarcoma64 hallmark (90%) HP:0100242
3 tinnitus64 54 typical (50%) Frequent (79-30%) HP:0000360
4 hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000365
5 abdominal pain64 54 typical (50%) Frequent (79-30%) HP:0002027
6 gastrointestinal hemorrhage64 54 typical (50%) Frequent (79-30%) HP:0002239
7 intestinal obstruction64 54 typical (50%) Frequent (79-30%) HP:0005214
8 cranial nerve paralysis64 54 typical (50%) Frequent (79-30%) HP:0006824
9 feeding difficulties in infancy64 typical (50%) HP:0008872
10 paraganglioma64 54 Very frequent (99-80%) HP:0002668
11 weight loss54 Frequent (79-30%)
12 dysphagia54 Frequent (79-30%)
13 gastrointestinal stroma tumor54 Very frequent (99-80%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.1SDHC, SDHD

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
nivolumabapprovedPhase 2326946414-94-4
Synonyms:
BMS-936558
 
MDX-1106
ONO-4538
nivolumab
2ImmunoglobulinsPhase 26045
3Antibodies, MonoclonalPhase 23795
4AntibodiesPhase 26045

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

About this section

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

About this section

Publications for Paraganglioma and Gastric Stromal Sarcoma

About this section

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

About this section

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, +1SNVPathogenicChr na, -1: -1
2SDHBSDHB, IVS4DS, G-C, +1SNVPathogenicChr na, -1: -1
3SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)SNVLikely pathogenic, Pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
4SDHBNM_003000.2(SDHB): c.126delT (p.Phe42Leufs)deletionPathogenicrs878854572GRCh38Chr 1, 17044835: 17044835
5SDHBNM_003000.2(SDHB): c.201-2A> CSNVLikely pathogenicrs878854574GRCh37Chr 1, 17359642: 17359642
6SDHDNM_003002.3(SDHD): c.-84-?_*831+?deldeletionPathogenicChr na, -1: -1
7SDHDNM_003002.3(SDHD): c.10dupC (p.Leu4Profs)duplicationPathogenicrs878854589GRCh37Chr 11, 111957641: 111957641
8SDHDNM_003002.3(SDHD): c.173delG (p.Gly58Alafs)deletionPathogenicrs878854590GRCh37Chr 11, 111959594: 111959594
9SDHDNM_003002.3(SDHD): c.242delC (p.Pro81Argfs)deletionPathogenicrs878854591GRCh38Chr 11, 112088939: 112088939
10SDHDNM_003002.3(SDHD): c.361C> T (p.Gln121Ter)SNVLikely pathogenicrs878854594GRCh37Chr 11, 111965575: 111965575
11SDHBNM_003000.2(SDHB): c.423+1G> ASNVPathogenicrs398122805GRCh37Chr 1, 17355094: 17355094
12SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)SNVPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
13SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)SNVPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
14SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)SNVPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
15SDHDNM_003002.3(SDHD): c.57delG (p.Leu20Cysfs)deletionPathogenicrs587776649GRCh38Chr 11, 112087861: 112087861
16SDHCNM_003001.3(SDHC): c.405+1G> ASNVLikely pathogenic, Pathogenicrs587776653GRCh37Chr 1, 161326631: 161326631

Expression for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

About this section
Search GEO for disease gene expression data for Paraganglioma and Gastric Stromal Sarcoma.

Pathways for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

About this section

GO Terms for genes affiliated with Paraganglioma and Gastric Stromal Sarcoma

About this section

Cellular components related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1respiratory chain complex IIGO:00452739.3SDHB, SDHC
2mitochondrial inner membraneGO:00057439.2SDHB, SDHC, SDHD
3mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057499.2SDHB, SDHC, SDHD
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:00090609.7SDHB, SDHC
2tricarboxylic 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:00200379.9SDHC, SDHD
2electron carrier activityGO:00090559.3SDHB, SDHC, SDHD
3succinate dehydrogenase activityGO:00001049.3SDHC, SDHD
4ubiquinone bindingGO:00480399.0SDHB, SDHD
5metal ion bindingGO:00468728.7SDHB, SDHC, SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

About this section
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