MCID: PRG017
MIFTS: 40

Paraganglioma and Gastric Stromal Sarcoma

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

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

MalaCards integrated aliases for Paraganglioma and Gastric Stromal Sarcoma:

Name: Paraganglioma and Gastric Stromal Sarcoma 57 53 59 75 29 13 6 73
Carney-Stratakis Syndrome 57 53 59 75
Paraganglioma and Gastrointestinal Stromal Tumor 57 53
Carney Dyad 53 59
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 53
Paraganglioma and Gastrointestinal Stromal Tumor; Gist 57
Paraganglioma, Gastric Stromal Sarcoma 40
Gastrointestinal Stromal Tumors 73
Gist-Paraganglioma Dyad 59
Paraganglioma and Gist 53
Carney-Stratakis Dyad 59
Pggss 75
Gist 57

Characteristics:

Orphanet epidemiological data:

59
carney-stratakis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Paraganglioma and Gastric Stromal Sarcoma

NIH Rare Diseases : 53 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.

MalaCards based summary : Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to gastrointestinal stromal tumor and pheochromocytoma. 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 tinnitus and hearing impairment

UniProtKB/Swiss-Prot : 75 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

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0000360
2 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
3 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
6 gastrointestinal hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002239
7 paraganglioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002668
8 intestinal obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0005214
9 cranial nerve paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0006824
10 gastrointestinal stroma tumor 59 32 hallmark (90%) Very frequent (99-80%) HP:0100723
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
# 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 73 / NDF-RT 51 :


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 29 SDHB SDHC SDHD

Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

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

41
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
(show top 50) (show all 240)
# 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.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
3 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
4 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
5 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
6 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh38 Chromosome 11, 112089002: 112089002
7 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
8 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh38 Chromosome 11, 112087868: 112087868
9 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh37 Chromosome 11, 111959612: 111959613
10 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh38 Chromosome 11, 112088888: 112088889
11 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
12 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh38 Chromosome 11, 112087933: 112087933
13 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
14 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585
15 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
16 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh38 Chromosome 1, 161356841: 161356841
17 SDHB NM_003000.2(SDHB): c.423+1G> C single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
18 SDHB NM_003000.2(SDHB): c.423+1G> C single nucleotide variant Pathogenic rs398122805 GRCh38 Chromosome 1, 17028599: 17028599
19 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
20 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh38 Chromosome 1, 17053947: 17053947
21 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh37 Chromosome 11, 111965693: 111965693
22 SDHD NM_003002.3(SDHD): c.479G> T (p.Ter160Leu) single nucleotide variant Uncertain significance rs201372601 GRCh38 Chromosome 11, 112094969: 112094969
23 SDHD NM_003002.3(SDHD): c.158C> T (p.Pro53Leu) single nucleotide variant Uncertain significance rs149516118 GRCh37 Chromosome 11, 111958686: 111958686
24 SDHD NM_003002.3(SDHD): c.158C> T (p.Pro53Leu) single nucleotide variant Uncertain significance rs149516118 GRCh38 Chromosome 11, 112087962: 112087962
25 SDHB NM_003000.2(SDHB): c.300T> C (p.Ser100=) single nucleotide variant Benign/Likely benign rs11541235 GRCh37 Chromosome 1, 17355218: 17355218
26 SDHB NM_003000.2(SDHB): c.300T> C (p.Ser100=) single nucleotide variant Benign/Likely benign rs11541235 GRCh38 Chromosome 1, 17028723: 17028723
27 SDHB NM_003000.2(SDHB): c.158G> A (p.Gly53Glu) single nucleotide variant Benign/Likely benign rs34916635 GRCh37 Chromosome 1, 17371298: 17371298
28 SDHB NM_003000.2(SDHB): c.158G> A (p.Gly53Glu) single nucleotide variant Benign/Likely benign rs34916635 GRCh38 Chromosome 1, 17044803: 17044803
29 SDHB NM_003000.2(SDHB): c.24C> T (p.Ser8=) single nucleotide variant Benign/Likely benign rs148738139 GRCh37 Chromosome 1, 17380491: 17380491
30 SDHB NM_003000.2(SDHB): c.24C> T (p.Ser8=) single nucleotide variant Benign/Likely benign rs148738139 GRCh38 Chromosome 1, 17053996: 17053996
31 SDHB NM_003000.2(SDHB): c.21C> T (p.Leu7=) single nucleotide variant Likely benign rs147815442 GRCh37 Chromosome 1, 17380494: 17380494
32 SDHB NM_003000.2(SDHB): c.21C> T (p.Leu7=) single nucleotide variant Likely benign rs147815442 GRCh38 Chromosome 1, 17053999: 17053999
33 SDHD NM_003002.3(SDHD): c.282C> G (p.Ser94=) single nucleotide variant Likely benign rs781182616 GRCh37 Chromosome 11, 111959703: 111959703
34 SDHD NM_003002.3(SDHD): c.282C> G (p.Ser94=) single nucleotide variant Likely benign rs781182616 GRCh38 Chromosome 11, 112088979: 112088979
35 SDHD NM_003002.3(SDHD): c.312C> T (p.His104=) single nucleotide variant Benign/Likely benign rs61734352 GRCh37 Chromosome 11, 111959733: 111959733
36 SDHD NM_003002.3(SDHD): c.312C> T (p.His104=) single nucleotide variant Benign/Likely benign rs61734352 GRCh38 Chromosome 11, 112089009: 112089009
37 SDHD NM_001276506.1(SDHD): c.118A> C (p.Ile40Leu) single nucleotide variant Uncertain significance rs146276662 GRCh38 Chromosome 11, 112087922: 112087922
38 SDHD NM_001276506.1(SDHD): c.118A> C (p.Ile40Leu) single nucleotide variant Uncertain significance rs146276662 GRCh37 Chromosome 11, 111958646: 111958646
39 SDHD NM_003002.3(SDHD): c.320T> G (p.Leu107Arg) single nucleotide variant Uncertain significance rs876658477 GRCh37 Chromosome 11, 111965534: 111965534
40 SDHD NM_003002.3(SDHD): c.320T> G (p.Leu107Arg) single nucleotide variant Uncertain significance rs876658477 GRCh38 Chromosome 11, 112094810: 112094810
41 SDHB NM_003000.2(SDHB): c.113G> A (p.Arg38His) single nucleotide variant Likely benign rs143058777 GRCh37 Chromosome 1, 17371343: 17371343
42 SDHB NM_003000.2(SDHB): c.113G> A (p.Arg38His) single nucleotide variant Likely benign rs143058777 GRCh38 Chromosome 1, 17044848: 17044848
43 SDHD NM_003002.3(SDHD): c.10dupC (p.Leu4Profs) duplication Pathogenic rs878854589 GRCh37 Chromosome 11, 111957641: 111957641
44 SDHD NM_003002.3(SDHD): c.10dupC (p.Leu4Profs) duplication Pathogenic rs878854589 GRCh38 Chromosome 11, 112086917: 112086917
45 SDHD NM_003002.3(SDHD): c.18G> A (p.Arg6=) single nucleotide variant Likely benign rs200895313 GRCh38 Chromosome 11, 112086925: 112086925
46 SDHD NM_003002.3(SDHD): c.18G> A (p.Arg6=) single nucleotide variant Likely benign rs200895313 GRCh37 Chromosome 11, 111957649: 111957649
47 SDHD NM_003002.3(SDHD): c.42A> G (p.Leu14=) single nucleotide variant Likely benign rs878854593 GRCh38 Chromosome 11, 112086949: 112086949
48 SDHD NM_003002.3(SDHD): c.42A> G (p.Leu14=) single nucleotide variant Likely benign rs878854593 GRCh37 Chromosome 11, 111957673: 111957673
49 SDHD NM_003002.3(SDHD): c.51A> C (p.Arg17=) single nucleotide variant Uncertain significance rs199890548 GRCh38 Chromosome 11, 112086958: 112086958
50 SDHD NM_003002.3(SDHD): c.51A> C (p.Arg17=) single nucleotide variant Uncertain significance rs199890548 GRCh37 Chromosome 11, 111957682: 111957682

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 9.56 SDHB SDHC SDHD TIMM8B
2 mitochondrial inner membrane GO:0005743 9.46 SDHB SDHC SDHD TIMM8B
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:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 SDHB SDHC SDHD
2 electron transport chain GO:0022900 9.26 SDHB SDHC
3 aerobic respiration GO:0009060 9.16 SDHB SDHC
4 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.96 SDHC SDHD
5 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:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.67 SDHB SDHC SDHD TIMM8B
2 electron transfer activity GO:0009055 9.33 SDHB SDHC SDHD
3 heme binding GO:0020037 9.32 SDHC SDHD
4 ubiquinone binding GO:0048039 9.26 SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 8.96 SDHC SDHD
6 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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