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

Aliases & Descriptions for Paraganglioma and Gastric Stromal Sarcoma:

Name: Paraganglioma and Gastric Stromal Sarcoma 54 50 56 66 29 13 69
Carney-Stratakis Syndrome 50 56 66
Carney Dyad 50 56
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 50
Paraganglioma and Gastrointestinal Stromal Tumor 50
Gist-Paraganglioma Dyad 56
Paraganglioma and Gist 50
Carney-Stratakis Dyad 56
Pggss 66

Characteristics:

Orphanet epidemiological data:

56
carney-stratakis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 606864
Orphanet 56 ORPHA97286
ICD10 via Orphanet 34 D44.8
MedGen 40 C1847319

Summaries for Paraganglioma and Gastric Stromal Sarcoma

UniProtKB/Swiss-Prot : 66 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 abdominal pain, dysphagia and hearing impairment. An important gene associated with Paraganglioma and Gastric Stromal Sarcoma is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Carbon metabolism. The drugs nivolumab and Immunoglobulins have been mentioned in the context of this disorder. Related phenotype is Increased shRNA abundance (Z-score > 2).

Description from OMIM: 606864

Related Diseases for Paraganglioma and Gastric Stromal Sarcoma

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)
id Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 31.4 SDHB SDHC SDHD
2 sdhb-related paraganglioma and gastric stromal sarcoma 12.2
3 sdhc-related paraganglioma and gastric stromal sarcoma 12.2
4 sdhd-related paraganglioma and gastric stromal sarcoma 12.2
5 carney triad 10.1
6 paraganglioma 10.1
7 sarcoma 10.1
8 chondroma 9.9
9 catastrophic antiphospholipid syndrome 9.9 SDHB SDHD
10 acrocapitofemoral dysplasia 9.9 SDHB SDHD
11 aneurysm 9.9 SDHB SDHC
12 bone ameloblastoma 9.9 SDHB SDHD
13 glomangioma 9.9 SDHB SDHD
14 central hypoventilation syndrome, congenital 9.9 SDHB SDHD
15 lumbar spinal canal and spinal cord meningioma 9.8 SDHB SDHD
16 leukemia, acute promyelocytic, somatic 9.8 SDHB SDHD
17 seborrheic dermatitis 9.8 SDHB SDHD
18 neuropathy, congenital, with arthrogryposis multiplex 9.7 SDHB SDHC SDHD
19 intravenous leiomyomatosis 9.7 SDHB SDHC SDHD
20 endocervical adenocarcinoma 9.7 SDHB SDHC SDHD
21 glioma susceptibility 2 9.7 SDHB SDHC SDHD
22 amaurosis congenita, cone-rod type, with congenital hypertrichosis 9.7 SDHB SDHC SDHD
23 serous surface papilloma 9.7 SDHB SDHC SDHD
24 cardiac arrest 9.7 SDHB SDHC SDHD
25 cowden syndrome 3 9.7 SDHB SDHC SDHD
26 glycogen storage disease ic 9.7 SDHB SDHC SDHD
27 non-syndromic male infertility due to sperm motility disorder 9.7 SDHB SDHC SDHD
28 neurofibromatosis-noonan syndrome 9.7 SDHB SDHC SDHD
29 isolated methylmalonic acidemia 9.7 SDHB SDHC SDHD
30 non-syndromic x-linked intellectual disability 9.7 SDHB SDHC SDHD
31 carotenemia 9.7 SDHB SDHC SDHD
32 zollinger-ellison syndrome 9.7 SDHB SDHC SDHD
33 childhood teratocarcinoma of the testis 9.7 SDHB SDHC SDHD
34 erythrocytosis, familial, 2 9.7 SDHB SDHC SDHD
35 benign shuddering attacks 9.7 SDHB SDHC SDHD
36 pheochromocytoma 9.7 SDHB SDHC SDHD
37 bjornstad syndrome 9.7 SDHB 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

Clinical features from OMIM:

606864

Human phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 56 32 Frequent (79-30%) HP:0002027
2 dysphagia 56 32 Frequent (79-30%) HP:0002015
3 hearing impairment 56 32 Frequent (79-30%) HP:0000365
4 cranial nerve paralysis 56 32 Frequent (79-30%) HP:0006824
5 weight loss 56 32 Frequent (79-30%) HP:0001824
6 intestinal obstruction 56 32 Frequent (79-30%) HP:0005214
7 gastrointestinal hemorrhage 56 32 Frequent (79-30%) HP:0002239
8 tinnitus 56 32 Frequent (79-30%) HP:0000360
9 gastrointestinal stroma tumor 56 32 Very frequent (99-80%) HP:0100723
10 paraganglioma 56 32 Very frequent (99-80%) HP:0002668
11 neoplasm of the gastrointestinal tract 32 HP:0007378

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.17 SDHC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.17 SDHC SDHD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.17 SDHC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.17 SDHC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.17 SDHC SDHD

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 2 946414-94-4
2 Immunoglobulins Phase 2
3 Antibodies, Monoclonal Phase 2
4 Antibodies Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2

Search NIH Clinical Center for Paraganglioma and Gastric Stromal Sarcoma

Genetic Tests for Paraganglioma and Gastric Stromal Sarcoma

Genetic tests related to Paraganglioma and Gastric Stromal Sarcoma:

id Genetic test Affiliating Genes
1 Paraganglioma and Gastric Stromal Sarcoma 29

Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

Publications for Paraganglioma and Gastric Stromal Sarcoma

Articles related to Paraganglioma and Gastric Stromal Sarcoma:

id Title Authors Year
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

ClinVar genetic disease variations for Paraganglioma and Gastric Stromal Sarcoma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
2 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
3 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
4 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
5 SDHB SDHB, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
6 SDHB SDHB, IVS4DS, G-C, +1 single nucleotide variant Pathogenic
7 SDHD NM_003002.3(SDHD): c.10dupC (p.Leu4Profs) duplication Pathogenic rs878854589 GRCh37 Chromosome 11, 111957641: 111957641
8 SDHD NM_003002.3(SDHD): c.173delG (p.Gly58Alafs) deletion Pathogenic rs878854590 GRCh38 Chromosome 11, 112088870: 112088870
9 SDHD NM_003002.3(SDHD): c.242delC (p.Pro81Argfs) deletion Pathogenic rs878854591 GRCh38 Chromosome 11, 112088939: 112088939
10 SDHD NM_003002.3(SDHD): c.361C> T (p.Gln121Ter) single nucleotide variant Likely pathogenic rs878854594 GRCh38 Chromosome 11, 112094851: 112094851

Expression for Paraganglioma and Gastric Stromal Sarcoma

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

Pathways for Paraganglioma and Gastric Stromal Sarcoma

GO Terms for Paraganglioma and Gastric Stromal Sarcoma

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 SDHB SDHC SDHD
2 mitochondrial inner membrane GO:0005743 9.33 SDHB SDHC SDHD
3 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.33 SDHB SDHC SDHD
2 aerobic respiration GO:0009060 8.96 SDHB SDHC
3 tricarboxylic acid cycle GO:0006099 8.8 SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.32 SDHC SDHD
2 ubiquinone binding GO:0048039 9.26 SDHB SDHD
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHD
4 succinate dehydrogenase activity GO:0000104 8.96 SDHC SDHD
5 electron carrier activity GO:0009055 8.8 SDHB SDHC SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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