MCID: CRN055
MIFTS: 35

Carney Triad malady

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

Aliases & Classifications for Carney Triad

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Carney Triad:

Name: Carney Triad 45 47 51 65
 
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 45

Characteristics:

Orphanet epidemiological data:

51
carney triad:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

Orphanet51 139411
ICD10 via Orphanet28 D44.8
UMLS65 C1858592

Summaries for Carney Triad

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MalaCards based summary: Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to paragangliomas 1, with or without deafness and colorectal cancer, and has symptoms including neuroendocrine neoplasm, neoplasm of the lung and sarcoma. An important gene associated with Carney Triad is SDHC (Succinate Dehydrogenase Complex Subunit C), and among its related pathways are Cardiac Progenitor Differentiation and Central carbon metabolism in cancer. Affiliated tissues include lung, liver and heart, and related mouse phenotypes are cardiovascular system and mortality/aging.

Related Diseases for Carney Triad

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Graphical network of the top 20 diseases related to Carney Triad:



Diseases related to carney triad

Symptoms for Carney Triad

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Symptoms:

 51 (show all 21)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • acute diarrhea
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • neoplasms/tumors
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • pheochromocytoma/paraganglioma
  • sarcoma
  • asthenia/fatigue/weakness
  • ascitis
  • hepatitis/icterus/cholestasis
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • mediastinal anomalies
  • cortico-adrenal hyperplasia/hypersecretion
  • cardiac rhythm disorder/arrhythmia
  • chronic arterial hypertension
  • lymphadenopathy/polyadenopathies
  • facial pain/cephalalgia/migraine
  • anorexia
  • anaemia

HPO human phenotypes related to Carney Triad:

(show all 18)
id Description Frequency HPO Source Accession
1 neuroendocrine neoplasm hallmark (90%) HP:0100634
2 neoplasm of the lung hallmark (90%) HP:0100526
3 sarcoma hallmark (90%) HP:0100242
4 neoplasm of the stomach hallmark (90%) HP:0006753
5 gastrointestinal hemorrhage hallmark (90%) HP:0002239
6 abdominal pain hallmark (90%) HP:0002027
7 nausea and vomiting hallmark (90%) HP:0002017
8 diarrhea hallmark (90%) HP:0002014
9 abnormality of the mediastinum typical (50%) HP:0045026
10 hypercortisolism typical (50%) HP:0001578
11 ascites typical (50%) HP:0001541
12 abnormality of the liver typical (50%) HP:0001392
13 arrhythmia occasional (7.5%) HP:0011675
14 lymphadenopathy occasional (7.5%) HP:0002716
15 migraine occasional (7.5%) HP:0002076
16 anorexia occasional (7.5%) HP:0002039
17 anemia occasional (7.5%) HP:0001903
18 hypertension occasional (7.5%) HP:0000822

Drugs & Therapeutics for Carney Triad

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Carney Triad

Genetic Tests for Carney Triad

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Anatomical Context for Carney Triad

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MalaCards organs/tissues related to Carney Triad:

33
Lung, Liver, Heart, Bone, Testes, Tongue, Neutrophil

Animal Models for Carney Triad or affiliated genes

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MGI Mouse Phenotypes related to Carney Triad:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6KIT, PDGFRA, PDPN, SDHB, SDHD
2MP:00107686.4KIT, PDGFRA, PDPN, SDHA, SDHB, SDHC

Publications for Carney Triad

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Articles related to Carney Triad:

(show all 41)
idTitleAuthorsYear
1
Introducing rapid diagnostic tests for malaria into registered drug shops in Uganda: lessons learned and policy implications. (26573910)
2015
2
Chronic neutrophilic leukemia: novel mutations and their impact on clinical practice. (25575036)
2015
3
Examination of structural changes in the transforming growth factor I^ receptor 1 (TGFI^R1) gene in patients with chronic heart failure]. (25715477)
2014
4
Asthma control: how it can be best assessed? (24285181)
2014
5
Characterization of the mTOR pathway in human normal adrenal and adrenocortical tumors. (24891456)
2014
6
Gilles de la Tourette Syndrome and Disruptive Behavior Disorders: Prevalence, Associations, and Explanation of the Relationships. (25162416)
2014
7
Differential roles of the C and N termini of Orai1 protein in interacting with stromal interaction molecule 1 (STIM1) for Ca2+ release-activated Ca2+ (CRAC) channel activation. (23447534)
2013
8
Dihydrotestosterone may contribute to the development of migraine headaches. (23971241)
2013
9
Connexin40 regulates platelet function. (24096827)
2013
10
Polycomb group protein EZH2-mediated E-cadherin repression promotes metastasis of oral tongue squamous cell carcinoma. (22161744)
2013
11
Multidrug resistant miliary tuberculosis during infliximab therapy despite tuberculosis screening. (23713793)
2013
12
The Wilms' tumor suppressor Wt1 regulates Coronin 1B expression in the epicardium. (23562652)
2013
13
Swine influenza test results from animal health laboratories in Canada. (24155436)
2013
14
Prenatal management of diaphragmatic rhabdomyosarcoma presenting with fetal hydrops. (21997954)
2012
15
MiR-9, -31, and -182 deregulation promote proliferation and tumor cell survival in colon cancer. (23019418)
2012
16
Aquaporin 5 gene promoter--1364A/C polymorphism associated with 30-day survival in severe sepsis. (21427539)
2011
17
Oncostatin M-enhanced vascular endothelial growth factor expression in human vascular smooth muscle cells involves PI3K-, p38 MAPK-, Erk1/2- and STAT1/STAT3-dependent pathways and is attenuated by interferon-I^. (21174212)
2011
18
New insights into the role of cAMP in the production and function of the incretin hormone glucagon-like peptide-1 (GLP-1). (19772917)
2010
19
Localization and origin of cardiac CD117-positive cells: identification of a population of epicardially-derived cells in adult human heart. (21072993)
2010
20
Acute cor pulmonale. (19186411)
2009
21
Sudden infant death syndrome. (19496386)
2009
22
Cyclophosphamide and cancer: golden anniversary. (19786984)
2009
23
Normalization of bone markers is associated with improved survival in patients with bone metastases from solid tumors and elevated bone resorption receiving zoledronic acid. (18459173)
2008
24
Montelukast exerts no acute direct effect on NO synthases. (16815057)
2007
25
Synthesis and function of hepatic very-low-density lipoprotein. (14748713)
2004
26
Combination of CC16, GSTM1, and GSTT1 genetic polymorphisms is associated with asthma. (15148962)
2004
27
Plant sterol-fortified orange juice effectively lowers cholesterol levels in mildly hypercholesterolemic healthy individuals. (14764424)
2004
28
Correlation between omeprazole hydroxylase and CYP2C19 genotype in North Indians. (11791894)
2001
29
Observations on time course changes of the cherry red spot in a patient with Tay-Sachs disease. (11203170)
2000
30
Proteolytic cleavage of ras GTPase-activating protein during apoptosis. (10200531)
1998
31
The significance of deletion polymorphism in the ACE gene for progression of diabetic nephropathies treated with ACE inhibitors]. (9741257)
1998
32
Combined analysis of inherited polymorphisms in arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1, microsomal epoxide hydrolase, and cytochrome P450 enzymes as modulators of bladder cancer risk. (8752158)
1996
33
Transcripts from a novel human KRAB zinc finger gene contain spliced Alu and endogenous retroviral segments. (8661005)
1996
34
Intracytoplasmic sperm injection: a treatment for extreme oligospermia. (8709295)
1996
35
The G-protein-gated atrial K+ channel IKACh is a heteromultimer of two inwardly rectifying K(+)-channel proteins. (7877685)
1995
36
Comparative evaluation of the clinical utility of three markers of ethanol intake: the effect of gender. (8098186)
1993
37
Human centrosomal epitope is shared specifically with human lactate dehydrogenase-B isozyme. (1371976)
1992
38
Radiocolloid scintigraphy in Felty's syndrome. (3487213)
1986
39
Frozen shoulder. (4062393)
1985
40
Pitfall in the CT diagnosis of pulmonary arteriovenous malformation. (6863675)
1983
41
Unusual metastatic pattern in testicular malignant teratoma. (6835174)
1983

Variations for Carney Triad

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Clinvar genetic disease variations for Carney Triad:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SDHANM_004168.3(SDHA): c.91C> T (p.Arg31Ter)single nucleotide variantLikely pathogenic, Pathogenicrs142441643GRCh38Chr 5, 223509: 223509
2SDHBNM_003000.2(SDHB): c.380T> G (p.Ile127Ser)single nucleotide variantLikely pathogenic, Pathogenicrs786201095GRCh37Chr 1, 17355138: 17355138
3SDHCNM_003001.3(SDHC): c.405+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587776653GRCh37Chr 1, 161326631: 161326631

Expression for genes affiliated with Carney Triad

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Search GEO for disease gene expression data for Carney Triad.

Pathways for genes affiliated with Carney Triad

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Pathways related to Carney Triad according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0KIT, PDGFRA
29.0KIT, PDGFRA
3
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD
4
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD
5
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD
6
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD
7
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD

GO Terms for genes affiliated with Carney Triad

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Biological processes related to Carney Triad according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:000610510.1SDHA, SDHB
2positive regulation of phospholipase C activityGO:00108639.4KIT, PDGFRA
3phosphatidylinositol-mediated signalingGO:00480159.3KIT, PDGFRA
4transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.2KIT, PDGFRA
5positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.1KIT, PDGFRA
6cell chemotaxisGO:00603269.0KIT, PDGFRA
7positive regulation of phosphatidylinositol 3-kinase activityGO:00435528.9KIT, PDGFRA

Molecular functions related to Carney Triad according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00081779.8SDHA, SDHB
2electron carrier activityGO:00090559.5SDHB, SDHD
3oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.3SDHA, SDHC

Sources for Carney Triad

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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