MCID: CRN055
MIFTS: 43

Carney Triad malady

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

Aliases & Classifications for Carney Triad

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
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Carney Triad, Aliases & Descriptions:

Name: Carney Triad 41 43 47 60
 
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
carney triad:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult


External Ids:

Orphanet47 139411
ICD10 via Orphanet26 D44.8

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 gastrointestinal stromal tumor and paraganglioma and gastric stromal sarcoma, and has symptoms including diarrhea, nausea and vomiting and abdominal pain. An important gene associated with Carney Triad is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways are Sorafenib Pharmacodynamics and Striated Muscle Contraction. The compounds mibg and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and lymph node, and related mouse phenotypes are behavior/neurological and muscle.

Related Diseases for Carney Triad

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Diseases related to Carney Triad via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal stromal tumor31.3KIT, PDGFRA
2paraganglioma and gastric stromal sarcoma30.8SDHC, SDHD, SDHB
3pheochromocytoma30.8SDHD, SDHB
4chondroma30.8SDHB, SDHD, SDHC, PDGFRA
5paragangliomas 1, with or without deafness30.6SDHB, SDHD, SDHC
6adrenal cortical adenoma30.6SDHB, SDHD, SDHC
7paraganglioma30.4SDHB, SDHD, SDHC, SDHA, KIT
8neurofibromatosis30.3SDHB, SDHD, SDHC, PDGFRA
9sarcoma30.3KIT, PDGFRA, ACTC1, DES
10leiomyoma30.0DES, ACTC1, PDGFRA, KIT
11leiomyomatosis10.5SDHB
12infantile myofibromatosis10.4DES
13myelofibrosis10.4PDGFRA
14ductal carcinoma in situ10.4PDPN
15fasciitis10.4ACTC1
16neurofibromatosis, type 210.3SDHD, SDHB
17paragangliomas 510.3SDHA
18liposarcoma10.3DES
19renal cell carcinoma10.3PDPN
20mesenchymal cell neoplasm10.3PDGFRA, KIT
21hypereosinophilic syndrome, idiopathic, resistant to imatinib10.3PDGFRA, KIT
22piebaldism10.3KIT, PDGFRA
23systemic mastocytosis10.3PDGFRA, KIT
24hypereosinophilic syndrome10.2PDGFRA, KIT
25chronic myelomonocytic leukemia10.2PDGFRA, KIT
26hereditary paraganglioma-pheochromocytoma syndromes10.2SDHC, SDHD, SDHB
27dedifferentiated liposarcoma10.2DES, KIT
28mastocytosis10.2KIT, PDGFRA
29phaeochromocytoma10.2SDHC, SDHD, SDHB
30uterine sarcoma10.2KIT, DES
31multiple endocrine neoplasia iia10.2SDHB, SDHD, SDHC
32malignant peripheral nerve sheath tumor10.2PDGFRA, KIT
33von hippel-lindau syndrome10.2SDHB, SDHD, SDHC
34multiple endocrine neoplasia10.2SDHB, SDHD, SDHC
35multiple endocrine neoplasia 110.2SDHB, SDHD, SDHC
36germinoma10.2KIT, PDPN
37hyperparathyroidism10.2SDHB, SDHD, SDHC
38chordoma10.2PDGFRA, DES
39polycythemia vera10.2KIT, PDGFRA
40adenosarcoma10.2ACTC1, DES
41neurofibromatosis, type 110.2
42hepatitis10.2
43adenoma10.2
44harlequin syndrome10.2
45epithelioid leiomyosarcoma10.2DES, ACTC1
46pseudosarcomatous fibromatosis10.2DES, ACTC1
47spindle cell carcinoma10.2ACTC1, DES
48spindle cell sarcoma10.2DES, ACTC1
49cutaneous fibrous histiocytoma10.1ACTC1, DES
50lymphangioma10.1ACTC1, PDPN

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:

 47 (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 17)
id Description Frequency HPO Source Accession
1 diarrhea hallmark (90%) HP:0002014
2 nausea and vomiting hallmark (90%) HP:0002017
3 abdominal pain hallmark (90%) HP:0002027
4 gastrointestinal hemorrhage hallmark (90%) HP:0002239
5 neoplasm of the stomach hallmark (90%) HP:0006753
6 sarcoma hallmark (90%) HP:0100242
7 neoplasm of the lung hallmark (90%) HP:0100526
8 neuroendocrine neoplasm hallmark (90%) HP:0100634
9 abnormality of the liver typical (50%) HP:0001392
10 ascites typical (50%) HP:0001541
11 hypercortisolism typical (50%) HP:0001578
12 mediastinal lymphadenopathy typical (50%) HP:0100721
13 hypertension occasional (7.5%) HP:0000822
14 anemia occasional (7.5%) HP:0001903
15 anorexia occasional (7.5%) HP:0002039
16 migraine occasional (7.5%) HP:0002076
17 arrhythmia occasional (7.5%) HP:0011675

Drugs & Therapeutics for Carney Triad

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Drug clinical trials:

Search ClinicalTrials for Carney Triad

Search 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:

31
Lung, Liver, Lymph node

Animal Models for Carney Triad or affiliated genes

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MGI Mouse Phenotypes related to Carney Triad:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9KIT, PDPN, PDGFRA, SDHD, DES
2MP:00053697.6DES, ACTC1, PDGFRA, PDPN, KIT
3MP:00053857.5KIT, PDPN, PDGFRA, ACTC1, SDHD, DES
4MP:00053767.1DES, SDHD, ACTC1, PDGFRA, PDPN, KIT
5MP:00107687.0DES, SDHD, SDHC, ACTC1, PDGFRA, PDPN

Publications for Carney Triad

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Articles related to Carney Triad:

(show all 40)
idTitleAuthorsYear
1
Carney Triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. (25808178)
2015
2
Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. (25423347)
2015
3
13 cm GIST in 19-year-old patient, is it the first manifestation of Carney triad? (25603338)
2015
4
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. (24859990)
2014
5
Carney triad. (23652673)
2013
6
Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. (23681078)
2013
7
Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad. (23894692)
2013
8
First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge. (22689797)
2012
9
Two out of three required: a case of incomplete Carney triad. (21791484)
2012
10
Multifocal gastric gastrointestinal stromal tumors (GISTs) with lymph node metastases in children and young adults: a comparative clinical and histomorphological study of three cases including a new case of Carney triad. (21663639)
2011
11
Images of a case of Carney triad by combined F-18 FDG PET/CT. (21716025)
2011
12
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. (20890271)
2011
13
Multicentric paragangliomas associated with Carney triad. (20336905)
2010
14
Images for diagnosis. An unusual case of Carney triad with high level catecholamine-secreting but no existence of extra-adrenal paraganglioma. (20193497)
2010
15
Lymphatics and D2-40/podoplanin expression in gastrointestinal stromal tumours of the stomach with and without lymph node metastasis: an immunohistochemical study with special reference to the Carney triad. (20203222)
2010
16
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. (20705254)
2010
17
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. (19935059)
2010
18
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)
2010
19
Incomplete Carney triad--a review of two cases. (19561114)
2009
20
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)
2009
21
Carney triad in an adult with aggressive behavior: the first case in Korea. (19881977)
2009
22
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
23
Multiple pulmonary chondromas in a young female patient: a component of Carney triad. (19461402)
2009
24
Respiratory symptoms in a boy revealing Carney triad. (17039489)
2008
25
Answer to case of the month # 131. Carney triad. (18533398)
2008
26
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. (18697369)
2008
27
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)
2007
28
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. (17535989)
2007
29
Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization. (17549339)
2007
30
Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. (16638708)
2006
31
A new case of Carney triad: gastrointestinal stromal tumours and leiomyoma of the oesophagus do not show activating mutations of KIT and platelet-derived growth factor receptor alpha. (17021135)
2006
32
Interventional radiology in Carney triad. (15108016)
2005
33
Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. (15735861)
2005
34
Carney triad: case report and molecular analysis of gastric tumor. (15712189)
2005
35
Getting the GIST of the Carney Triad: growth factors, rare tumors, and cellular respiration. (15383926)
2004
36
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)
2002
37
A case of the Carney triad. (15251665)
1999
38
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
1999
39
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
40
Neuroectodermal differentiation of the gastrointestinal tumors in the Carney triad. An ultrastructural and immunohistochemical study. (8317611)
1993

Variations for Carney Triad

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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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6KIT, PDGFRA
2
Show member pathways
9.1ACTC1, DES
39.1ACTC1, PDGFRA, KIT
4
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.8SDHB, SDHD, SDHC, SDHA
5
Show member pathways
Alzheimers Disease36
8.8SDHA, SDHC, SDHD, SDHB
6
Show member pathways
8.8SDHA, SDHC, SDHD, SDHB
7
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
8.8SDHA, SDHC, SDHD, SDHB
88.6DES, ACTC1, PDPN

Compounds for genes affiliated with Carney Triad

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

(show all 46)
idCompoundScoreTop Affiliating Genes
1mibg4310.1SDHD, SDHB
2pkc 412439.9PDGFRA, KIT
3ag-1296439.9PDGFRA, KIT
4thenoyltrifluoroacetone43 1210.9SDHB, SDHA
5fumarate43 1210.8SDHC, SDHD, SDHB
6pazopanib49 1210.8PDGFRA, KIT
7Ubiquinol 8249.8SDHB, SDHA
8ponatinib49 1210.8KIT, PDGFRA
9sunitinib43 49 1211.8KIT, PDGFRA
10regorafenib49 1210.8KIT, PDGFRA
11orcein439.5DES, ACTC1
12toluidine439.5KIT, DES
13s 100439.5DES, ACTC1
14reticulin439.4DES, ACTC1
15mucicarmine439.4ACTC1, DES
16Fumaric acid249.3SDHA, SDHC, SDHD, SDHB
17succinic acid28 24 1211.3SDHB, SDHD, SDHC, SDHA
18iron-sulfur439.2SDHB, SDHD, SDHC, SDHA
19ubiquinone439.2SDHB, SDHD, SDHC, SDHA
20Sulfide249.2SDHB, SDHD, SDHC, SDHA
21QH2249.2SDHA, SDHC, SDHD, SDHB
22Ubiquinone Q2249.2SDHB, SDHD, SDHC, SDHA
23Ubiquinone Q1249.2SDHA, SDHC, SDHD, SDHB
24succinate439.2SDHB, SDHD, SDHC, SDHA
25FAD249.2SDHB, SDHD, SDHC, SDHA
26nad+439.0SDHA, SDHB, DES
27gold439.0KIT, PDPN, DES
28formaldehyde43 2410.0KIT, ACTC1, DES
29b 723439.0PDPN, ACTC1, DES
30creatinine438.8ACTC1, SDHB, DES
31lactate438.8KIT, SDHB, DES
32glycogen43 249.7KIT, ACTC1, SDHB, DES
33imatinib43 49 1210.7DES, ACTC1, PDGFRA, KIT
34testosterone43 59 24 1211.6KIT, ACTC1, SDHB, DES
35hematoxylin438.6DES, ACTC1, PDPN, KIT
36steroid438.5DES, SDHC, ACTC1, KIT
37thymidine43 249.5DES, PDGFRA, KIT
38glucose438.4KIT, ACTC1, SDHB, DES
39estrogen438.4DES, ACTC1, PDGFRA, KIT
40retinoic acid43 249.3DES, SDHC, ACTC1, PDGFRA, KIT
41paraffin438.2DES, ACTC1, PDGFRA, PDPN, KIT
42calcium43 49 24 1210.9DES, SDHB, ACTC1, PDGFRA, KIT
43iron43 248.9DES, SDHB, SDHD, SDHC, SDHA, ACTC1
44oxygen43 248.9DES, SDHB, SDHD, SDHC, SDHA, ACTC1
45tyrosine437.8DES, SDHB, ACTC1, PDGFRA, PDPN, KIT
46vegf437.5DES, SDHB, SDHC, ACTC1, PDGFRA, PDPN

GO Terms for genes affiliated with Carney Triad

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Cellular components related to Carney Triad according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00057498.8SDHA, SDHC, SDHD, SDHB
2mitochondrionGO:00057398.8SDHA, SDHC, SDHD, SDHB
3external side of plasma membraneGO:00098978.8KIT, PDPN, PDGFRA
4mitochondrial inner membraneGO:00057438.7SDHB, SDHD, SDHC, SDHA

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:00090609.8SDHC, SDHB
2positive regulation of phospholipase C activityGO:00108639.8KIT, PDGFRA
3succinate metabolic processGO:00061059.7SDHB, SDHA
4cardiac myofibril assemblyGO:00550039.7PDGFRA, ACTC1
5positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.6PDGFRA, KIT
6positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6KIT, PDGFRA
7cell chemotaxisGO:00603269.3KIT, PDGFRA
8positive regulation of cell migrationGO:00303359.2KIT, PDPN, PDGFRA
9tricarboxylic acid cycleGO:00060999.1SDHA, SDHC, SDHD, SDHB
10respiratory electron transport chainGO:00229049.1SDHB, SDHD, SDHC, SDHA
11cellular metabolic processGO:00442379.0SDHA, SDHC, SDHD, SDHB
12muscle filament slidingGO:00300499.0ACTC1, DES

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

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:00480399.7SDHB, SDHD
2transmembrane receptor protein tyrosine kinase activityGO:00047149.6KIT, PDGFRA
3succinate dehydrogenase (ubiquinone) activityGO:00081779.5SDHA, SDHB
4succinate dehydrogenase activityGO:00001049.2SDHA, SDHC, SDHD
5electron carrier activityGO:00090559.1SDHC, SDHD, SDHB

Products for genes affiliated with Carney Triad

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Sources for Carney Triad

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet