MCID: PRG017
MIFTS: 39

Paraganglioma and Gastric Stromal Sarcoma malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases, Gastrointestinal 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 49 11 45 51 67 24 65
Carney-Stratakis Syndrome 45 51 67
Carney Dyad 45 51
Carney-Stratakis Dyad of Paraganglioma and Gastric Stromal Sarcoma 45
Paraganglioma and Gastrointestinal Stromal Tumor 45
 
Gist-Paraganglioma Dyad 51
Paraganglioma and Gist 45
Carney-Stratakis Dyad 51
Pggss 67

Characteristics:

Orphanet epidemiological data:

51
paraganglioma and gastric stromal sarcoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

OMIM49 606864
Orphanet51 97286
ICD10 via Orphanet28 D44.8
MedGen34 C1847319
UMLS65 C1847319

Summaries for Paraganglioma and Gastric Stromal Sarcoma

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UniProtKB/Swiss-Prot:67 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 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 Alzheimers disease.

Description from OMIM:49 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 49)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal stromal tumor31.5SDHA, SDHB, SDHC, SDHD
2sdhb-related paraganglioma and gastric stromal sarcoma12.7
3sdhc-related paraganglioma and gastric stromal sarcoma12.7
4sdhd-related paraganglioma and gastric stromal sarcoma12.7
5prostatitis10.6
6mumps10.2
7blepharochalasis10.2
8measles10.2
9rubella10.2
10varicocele10.2
11paracoccidioidomycosis10.2
12acute salpingo-oophoritis10.0SDHA, SDHD
13senile entropion10.0SDHA, SDHD
14cowden syndrome 29.9SDHA, SDHB
15cataract hutterite type9.9SDHB, SDHD
16paragangliomas 59.9SDHA, SDHB
17albinism, oculocutaneous, type iv9.9SDHA, SDHB
18paragangliomas 49.9SDHA, SDHB
19gallbladder adenoma9.9SDHB, SDHD
20cataract 4, multiple types9.8SDHB, SDHD
21male reproductive organ cancer9.8SDHA, SDHB
22epidermal appendage tumor9.8SDHB, SDHD
23myopathy with deficiency of iron-sulfur cluster assembly enzyme9.8SDHC, SDHD
24multiple endocrine neoplasia iib9.7SDHB, SDHD
25peptic ulcer disease9.7SDHB, SDHD
26immunodeficiency, common variable, 59.7SDHB, SDHD
27alcoholic cardiomyopathy9.7SDHA, SDHD
28familial stomach cancer9.6SDHB, SDHC, SDHD
29mononeuritis of upper limb and mononeuritis multiplex9.6SDHB, SDHC, SDHD
30retroperitoneal neuroblastoma9.5SDHB, SDHC, SDHD
31carcinoid tumors, intestinal9.5SDHB, SDHC, SDHD
32adenomyoma9.5SDHB, SDHC, SDHD
33sporadic pheochromocytoma/secreting paraganglioma9.5SDHB, SDHC, SDHD
34neurofibromatosis, familial spinal9.5SDHB, SDHC, SDHD
35von hippel-lindau syndrome9.5SDHB, SDHC, SDHD
36cerebellar liponeurocytoma9.5SDHB, SDHC, SDHD
37steroid inherited metabolic disorder9.5SDHB, SDHC, SDHD
38spastic ataxia 19.5SDHB, SDHC, SDHD
39decubitus ulcer9.5SDHB, SDHC, SDHD
40leigh syndrome9.5SDHA, SDHB, SDHD
41neuroaxonal dystrophy renal tubular acidosis9.2SDHA, SDHB, SDHC, SDHD
42paraganglioma and gastric stromal sarcoma9.2SDHA, SDHB, SDHC, SDHD
43oral hairy leukoplakia9.2SDHA, SDHB, SDHC, SDHD
44carnitine palmitoyltransferase i deficiency , muscle9.2SDHA, SDHB, SDHC, SDHD
45glycogen storage disease ib9.2SDHA, SDHB, SDHC, SDHD
46constant exophthalmos9.2SDHA, SDHB, SDHC, SDHD
47heritable pulmonary arterial hypertension9.2SDHA, SDHB, SDHC, SDHD
48non-syndromic x-linked intellectual disability9.2SDHA, SDHB, SDHC, SDHD
49pheochromocytoma9.2SDHA, 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 for Paraganglioma and Gastric Stromal Sarcoma

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Clinical features from OMIM:

606864

Symptoms:

 51 (show all 12)
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • pheochromocytoma/paraganglioma
  • sarcoma
  • autosomal dominant inheritance
  • tinnitus
  • hearing loss/hypoacusia/deafness
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • acute abdominal pain/colic
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • intestinal perforation
  • cranial nerves palsy

HPO human phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

(show all 10)
id Description Frequency HPO Source Accession
1 neoplasm of the stomach hallmark (90%) HP:0006753
2 sarcoma hallmark (90%) HP:0100242
3 tinnitus typical (50%) HP:0000360
4 hearing impairment typical (50%) HP:0000365
5 abdominal pain typical (50%) HP:0002027
6 gastrointestinal hemorrhage typical (50%) HP:0002239
7 intestinal obstruction typical (50%) HP:0005214
8 cranial nerve paralysis typical (50%) HP:0006824
9 feeding difficulties in infancy typical (50%) HP:0008872
10 paraganglioma HP:0002668

Drugs & Therapeutics for Paraganglioma and Gastric Stromal Sarcoma

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Interventional clinical trials:

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

Genetic Tests for Paraganglioma and Gastric Stromal Sarcoma

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Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

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Animal Models for Paraganglioma and Gastric Stromal Sarcoma or affiliated genes

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MGI Mouse Phenotypes related to Paraganglioma and Gastric Stromal Sarcoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Paraganglioma and Gastric Stromal Sarcoma

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Articles related to Paraganglioma and Gastric Stromal Sarcoma:

idTitleAuthorsYear
1
Cyclophosphamide and cancer: golden anniversary. (19786984)
2009
2
Pitfall in the CT diagnosis of pulmonary arteriovenous malformation. (6863675)
1983

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, +1single nucleotide variantPathogenic
2SDHBSDHB, IVS4DS, G-C, +1single nucleotide variantPathogenic
3SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
4SDHDNM_003002.3(SDHD): c.57delG (p.Leu20Cysfs)deletionPathogenicrs587776649GRCh38Chr 11, 112087861: 112087861
5SDHCNM_003001.3(SDHC): c.405+1G> Asingle nucleotide variantLikely pathogenic, 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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Biological processes related to Paraganglioma and Gastric Stromal Sarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00061059.3SDHA, SDHB

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00081779.8SDHA, SDHB
2oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.5SDHA, SDHC
3oxidoreductase activityGO:00164919.3SDHA, SDHB
4electron carrier activityGO:00090559.2SDHB, SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet