MCID: PRG017
MIFTS: 40

Paraganglioma and Gastric Stromal Sarcoma

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

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

MalaCards integrated aliases for Paraganglioma and Gastric Stromal Sarcoma:

Name: Paraganglioma and Gastric Stromal Sarcoma 53 49 55 71 28 13 69
Carney-Stratakis Syndrome 53 49 55 71
Paraganglioma and Gastrointestinal Stromal Tumor 53 49
Carney Dyad 49 55
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 49
Paraganglioma and Gastrointestinal Stromal Tumor; Gist 53
Gastrointestinal Stromal Tumors 69
Gist-Paraganglioma Dyad 55
Paraganglioma and Gist 49
Carney-Stratakis Dyad 55
Pggss 71
Gist 53

Characteristics:

Orphanet epidemiological data:

55
carney-stratakis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Paraganglioma and Gastric Stromal Sarcoma

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97286Disease definitionCarney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.EpidemiologyIt is a very rare syndrome reported in less than 20 unrelated families to date. It presents at a young age (median age: 19 years) with an apparently equal ratio of male and female patients.Clinical descriptionPatients with Carney-Stratakis syndrome have both GIST and paraganglioma. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of Carney-Stratakis syndrome varies widely, depending on the localization and the size of the tumors, and may include a palpable mass, dysphagia, abdominal pain, weight loss, hematemesis, melena, obstruction, perforation, cranial nerve palsies, tinnitus and hearing loss. GIST are intramural mesenchymal tumors of the gastrointestinal tract that originate from stem cells with characteristics of the interstitial cells of Cajal (the pacemaker cells which regulate peristalsis in the digestive tract). Paragangliomas are usually benign tumors that occur without clinical evidence of oversecretion and that arise within the sympathetic nervous system from cells of the paraganglia.EtiologyThe vast majority of Carney-Stratakis syndrome cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genesSDHB, SDHC and SDHD.Diagnostic methodsDiagnosis is made by clinical and radiologic examination, and confirmed immunohistochemically. Genetic testing to determine if SDH defects may be contributing to tumor growth or recurrence should be offered to pediatric GIST patients.Differential diagnosisThe main differential diagnosis includes Carney triad.Genetic counselingPredisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance.Management and treatmentTreatment modalities are surgery, embolization and radiotherapy. Chemotherapy with imatinib mesylate may be helpful for some patients with advanced-stage GIST. Targeting SDH function may potentiallybe useful in treating Carney-Stratakis syndrome patients but, at present, there are no drugs that restore SDH function. Life-long follow-up should be offered to patients with Carney-Stratakis syndrome.Visit the Orphanet disease page for more resources. Last updated: 1/4/2008

MalaCards based summary : Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to gastrointestinal stromal tumor and pheochromocytoma, 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 Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Affiliated tissues include testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 606864

Related Diseases for 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 29)
# Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 31.0 SDHB SDHC SDHD
2 pheochromocytoma 30.6 ENSG00000255292 SDHB SDHC SDHD
3 carney triad 29.3 SDHB SDHC SDHD
4 paraganglioma 29.2 SDHB SDHC SDHD
5 chondroma 29.0 SDHB SDHC SDHD
6 sarcoma 10.1
7 cowden syndrome 3 10.0 ENSG00000255292 SDHD
8 cerebellopontine angle tumor 9.9 ENSG00000255292 SDHD
9 glomus tumor 9.9 SDHB SDHD
10 multiple endocrine neoplasia, type iia 9.8 SDHB SDHD
11 multiple endocrine neoplasia, type i 9.7 SDHB SDHD
12 kearns-sayre syndrome 9.6 ENSG00000255292 SDHD
13 multiple endocrine neoplasia 9.5 SDHB SDHC
14 leigh syndrome 9.4 ENSG00000255292 SDHB SDHD
15 adrenal medulla cancer 9.4 SDHB SDHC SDHD
16 extra-adrenal pheochromocytoma 9.4 SDHB SDHC SDHD
17 persistent generalized lymphadenopathy 9.4 SDHB SDHC SDHD
18 hereditary paraganglioma-pheochromocytoma syndromes 9.4 SDHB SDHC SDHD
19 sporadic pheochromocytoma 9.4 SDHB SDHC SDHD
20 lymph node disease 9.3 SDHB SDHC SDHD
21 phaeochromocytoma 9.3 SDHB SDHC SDHD
22 von hippel-lindau syndrome 9.3 SDHB SDHC SDHD
23 cowden disease 9.3 SDHB SDHC SDHD
24 neurofibromatosis, type iv, of riccardi 9.3 SDHB SDHC SDHD
25 neural crest tumor 9.0 ENSG00000255292 SDHB SDHC SDHD
26 paragangliomas 1 9.0 ENSG00000255292 SDHB SDHC SDHD
27 mitochondrial complex ii deficiency 9.0 ENSG00000255292 SDHB SDHC SDHD
28 lymphatic system disease 9.0 ENSG00000255292 SDHB SDHC SDHD
29 endocrine gland cancer 9.0 ENSG00000255292 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 & Phenotypes for Paraganglioma and Gastric Stromal Sarcoma

Clinical features from OMIM:

606864

Human phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
2 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
3 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
4 cranial nerve paralysis 55 31 frequent (33%) Frequent (79-30%) HP:0006824
5 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
6 intestinal obstruction 55 31 frequent (33%) Frequent (79-30%) HP:0005214
7 gastrointestinal hemorrhage 55 31 frequent (33%) Frequent (79-30%) HP:0002239
8 tinnitus 55 31 frequent (33%) Frequent (79-30%) HP:0000360
9 gastrointestinal stroma tumor 55 31 hallmark (90%) Very frequent (99-80%) HP:0100723
10 paraganglioma 55 31 hallmark (90%) Very frequent (99-80%) HP:0002668
11 neoplasm of the gastrointestinal tract 31 HP:0007378

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

25
# 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

Search Clinical Trials , NIH Clinical Center for Paraganglioma and Gastric Stromal Sarcoma

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Paraganglioma and Gastric Stromal Sarcoma

Genetic tests related to Paraganglioma and Gastric Stromal Sarcoma:

# Genetic test Affiliating Genes
1 Paraganglioma and Gastric Stromal Sarcoma 28 SDHB SDHC SDHD

Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

MalaCards organs/tissues related to Paraganglioma and Gastric Stromal Sarcoma:

38
Testes

Publications for Paraganglioma and Gastric Stromal Sarcoma

Articles related to Paraganglioma and Gastric Stromal Sarcoma:

# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHB SDHB, IVS1DS, G-T, +1 single nucleotide variant Pathogenic
2 SDHB NM_003000.2(SDHB): c.423+1G> C single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
3 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
4 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
5 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
6 SDHD NM_003002.3(SDHD): c.10dupC (p.Leu4Profs) duplication Pathogenic rs878854589 GRCh37 Chromosome 11, 111957641: 111957641
7 SDHD NM_003002.3(SDHD): c.173delG (p.Gly58Alafs) deletion Pathogenic rs878854590 GRCh37 Chromosome 11, 111959594: 111959594
8 SDHD NM_003002.3(SDHD): c.242delC (p.Pro81Argfs) deletion Pathogenic rs878854591 GRCh38 Chromosome 11, 112088939: 112088939

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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.62 ENSG00000255292 SDHB SDHC SDHD
2 mitochondrial inner membrane GO:0005743 9.46 ENSG00000255292 SDHB SDHC SDHD
3 mitochondrial envelope GO:0005740 9.26 ENSG00000255292 SDHD
4 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
5 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 ENSG00000255292 SDHB SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.46 ENSG00000255292 SDHB SDHC SDHD
2 electron transport chain GO:0022900 9.32 SDHB SDHC
3 aerobic respiration GO:0009060 9.26 SDHB SDHC
4 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 ENSG00000255292 SDHC SDHD
5 tricarboxylic acid cycle GO:0006099 8.92 ENSG00000255292 SDHB SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.67 ENSG00000255292 SDHB SDHC SDHD
2 heme binding GO:0020037 9.5 ENSG00000255292 SDHC SDHD
3 electron transfer activity GO:0009055 9.46 ENSG00000255292 SDHB SDHC SDHD
4 succinate dehydrogenase activity GO:0000104 9.26 SDHC SDHD
5 ubiquinone binding GO:0048039 9.13 ENSG00000255292 SDHB SDHD
6 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 ENSG00000255292 SDHB SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

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