MCID: PRG017
MIFTS: 38

Paraganglioma and Gastric Stromal Sarcoma malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases, Gastrointestinal diseases categories

Aliases & Classifications for Paraganglioma and Gastric Stromal Sarcoma

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Paraganglioma and Gastric Stromal Sarcoma:

Name: Paraganglioma and Gastric Stromal Sarcoma 49 11 45 51 24 65 67
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Summaries for Paraganglioma and Gastric Stromal Sarcoma

About this section
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, Integral Membrane Protein), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Carbon metabolism.

Description from OMIM:49 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 44)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal stromal tumor29.8SDHA, SDHB, SDHC, SDHD
2sdhb-related paraganglioma and gastric stromal sarcoma10.6
3sdhc-related paraganglioma and gastric stromal sarcoma10.6
4sdhd-related paraganglioma and gastric stromal sarcoma10.6
5paraganglioma10.5
6sarcoma10.5
7carney triad10.5
8chondroma10.4
9nephrotic syndrome10.3
10cowden syndrome 29.9SDHA, SDHB
11cardiomyopathy, dilated, 1gg9.9SDHA, SDHB
12cataract hutterite type9.9SDHB, SDHD
13paragangliomas 59.9SDHA, SDHB
14paragangliomas 49.9SDHA, SDHB
15anus leiomyoma9.9SDHB, SDHD
16multiple endocrine neoplasia 19.8SDHB, SDHD
17seminoma9.8SDHA, SDHB
18heart conduction disease9.8SDHB, SDHC
19glossitis9.8SDHB, SDHD
20rothmund-thomson syndrome type 29.8SDHA, SDHB, SDHD
21familial streblodactyly9.7SDHB, SDHC, SDHD
22paragangliomas 1, with or without deafness9.7SDHB, SDHC, SDHD
23cervical neuroblastoma9.7SDHB, SDHC, SDHD
24chondromalacia9.7SDHB, SDHC, SDHD
25synostosis - microcephaly - scoliosis9.7SDHB, SDHC, SDHD
26neurofibromatosis, familial spinal9.7SDHB, SDHC, SDHD
27progressive relapsing multiple sclerosis9.7SDHB, SDHC, SDHD
28lymphadenitis9.7SDHB, SDHC, SDHD
29multiple endocrine neoplasia iia9.7SDHB, SDHC, SDHD
30von hippel-lindau syndrome9.7SDHB, SDHC, SDHD
31deep leiomyoma9.7SDHB, SDHC, SDHD
32myopathy with deficiency of iron-sulfur cluster assembly enzyme9.6SDHB, SDHC
33ovarian endometrioid cystadenofibroma9.6SDHB, SDHC, SDHD
34neuroaxonal dystrophy renal tubular acidosis9.5SDHA, SDHB, SDHC, SDHD
35verruciform xanthoma of skin9.5SDHA, SDHB, SDHC, SDHD
36paraganglioma and gastric stromal sarcoma9.5SDHA, SDHB, SDHC, SDHD
37lung abscess9.5SDHA, SDHB, SDHC, SDHD
38carnitine palmitoyltransferase i deficiency , muscle9.5SDHA, SDHB, SDHC, SDHD
39mitochondrial complex ii deficiency9.5SDHA, SDHB, SDHC, SDHD
40heritable pulmonary arterial hypertension9.5SDHA, SDHB, SDHC, SDHD
41primary progressive multiple sclerosis9.5SDHA, SDHB, SDHC, SDHD
42endocrine organ benign neoplasm9.5SDHA, SDHB, SDHC, SDHD
43gastrointestinal system disease9.5SDHA, SDHB, SDHC, SDHD
44pheochromocytoma9.5SDHA, 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

About this section


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

About this section

Interventional clinical trials:

Search ClinicalTrials, 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 Sarcoma24

Anatomical Context for Paraganglioma and Gastric Stromal Sarcoma

About this section

Animal Models for Paraganglioma and Gastric Stromal Sarcoma or affiliated genes

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
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.57delG (p.Leu20Cysfs)deletionPathogenicrs587776649GRCh38Chr 11, 112087861: 112087861
4SDHCNM_003001.3(SDHC): c.405+1G> Asingle nucleotide variantLikely 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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD
2
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD
3
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD
4
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD
5
Show member pathways
8.0SDHA, SDHB, SDHC, SDHD

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:00452739.6SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057498.6SDHA, SDHB, SDHC, SDHD
3mitochondrial inner membraneGO:00057438.0SDHA, SDHB, SDHC, SDHD
4mitochondrionGO:00057398.0SDHA, SDHB, SDHC, SDHD

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00061059.9SDHA, SDHB
2aerobic respirationGO:00090609.6SDHB, SDHC
3tricarboxylic acid cycleGO:00060998.6SDHA, SDHB, SDHC, SDHD
4oxidation-reduction processGO:00551148.5SDHA, SDHB, SDHC
5respiratory electron transport chainGO:00229048.4SDHA, SDHB, SDHC, SDHD
6cellular metabolic processGO:00442378.4SDHA, SDHB, SDHC, SDHD
7small molecule metabolic processGO:00442817.9SDHA, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:00480399.8SDHB, SDHD
2oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.6SDHA, SDHC
3succinate dehydrogenase activityGO:00001049.1SDHA, SDHC, SDHD
4succinate dehydrogenase (ubiquinone) activityGO:00081779.0SDHA, SDHB, SDHC
5heme bindingGO:00200378.8SDHC, SDHD
6electron carrier activityGO:00090558.5SDHB, SDHC, SDHD

Sources for Paraganglioma and Gastric Stromal Sarcoma

About this section
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