MCID: CRN055
MIFTS: 50

Carney Triad malady

Rare diseases, Endocrine diseases, Cancer diseases, Gastrointestinal diseases categories
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Summaries for Carney Triad

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47OMIM, 33MalaCards
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MalaCards: Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to gastrointestinal stromal tumor and paraganglioma, and has symptoms including mediastinal anomalies, cortico-adrenal hyperplasia/hypersecretion and cardiac rhythm disorder/arrhythmia. 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 and lymph node, and related mouse phenotypes are behavior/neurological and muscle.

Description from OMIM:47 604287

Aliases & Classifications for Carney Triad

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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
carney triad:
Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

carney triad 43 45 49 47 62
gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma 43


External Ids:

OMIM47 604287
ICD10 via Orphanet26 D44.8

Related Diseases for Carney Triad

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17GeneCards, 18GeneDecks
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Diseases related to Carney Triad via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal stromal tumor30.9KIT, PDGFRA
2paraganglioma30.8SDHB, SDHD, SDHC, SDHA, KIT
3chondroma30.7SDHB, SDHD, SDHC, PDGFRA
4paraganglioma and gastric stromal sarcoma30.5SDHC, SDHD, SDHB
5sarcoma30.5KIT, PDGFRA, ACTC1, DES
6pheochromocytoma30.4SDHD, SDHB
7neurofibromatosis30.4SDHD, SDHB
8leiomyoma30.2DES, ACTC1, PDGFRA, KIT
9adenoma10.2
10hepatitis10.2
11harlequin syndrome10.2
12paragangliomas 1, with or without deafness10.2
13leiomyomatosis10.1SDHB
14infantile myofibromatosis10.1DES
15myelofibrosis10.1PDGFRA
16ductal carcinoma in situ10.1PDPN
17fasciitis10.1ACTC1
18familial colorectal cancer10.1SDHD, SDHB
19paragangliomas 510.1SDHA
20liposarcoma10.1DES
21kidney cancer10.1PDPN
22mesenchymal cell neoplasm10.1PDGFRA, KIT
23piebaldism10.1KIT, PDGFRA
24systemic mastocytosis10.1PDGFRA, KIT
25hypereosinophilic syndrome10.1PDGFRA, KIT
26chronic myelomonocytic leukemia10.1PDGFRA, KIT
27hereditary paraganglioma-pheochromocytoma syndromes10.1SDHC, SDHD, SDHB
28dedifferentiated liposarcoma10.1DES, KIT
29mastocytosis10.1KIT, PDGFRA
30carotid body tumor10.1SDHB, SDHD, SDHC
31uterine sarcoma10.1KIT, DES
32phaeochromocytoma10.1SDHC, SDHD, SDHB
33multiple endocrine neoplasia type 2a10.1SDHB, SDHD, SDHC
34von hippel-lindau disease10.1SDHB, SDHD, SDHC
35malignant peripheral nerve sheath tumor10.1PDGFRA, KIT
36multiple endocrine neoplasia10.1SDHB, SDHD, SDHC
37germinoma10.1KIT, PDPN
38wermer syndrome10.1SDHB, SDHD, SDHC
39adrenal adenoma10.0SDHB, SDHD, SDHC
40hyperparathyroidism10.0SDHB, SDHD, SDHC
41chordoma10.0PDGFRA, DES
42polycythemia vera10.0KIT, PDGFRA
43adenosarcoma10.0ACTC1, DES
44epithelioid leiomyosarcoma10.0DES, ACTC1
45pseudosarcomatous fibromatosis10.0DES, ACTC1
46spindle cell carcinoma10.0ACTC1, DES
47spindle cell sarcoma10.0DES, ACTC1
48cutaneous fibrous histiocytoma10.0ACTC1, DES
49lymphangioma10.0ACTC1, PDPN
50fibrous histiocytoma10.0DES, ACTC1

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



Diseases related to carney triad

Symptoms for Carney Triad

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47OMIM, 49Orphanet
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Clinical features from OMIM:

604287

Symptoms:

49 (show all 21)
  • mediastinal anomalies
  • cortico-adrenal hyperplasia/hypersecretion
  • cardiac rhythm disorder/arrhythmia
  • chronic arterial hypertension
  • lymphadenopathy/polyadenopathies
  • facial pain/cephalalgia/migraine
  • anorexia
  • anaemia
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • hepatitis/icterus/cholestasis
  • ascitis
  • 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
  • nausea/vomiting/regurgitation/merycism/hyperemesis

Drugs & Therapeutics for Carney Triad

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Carney Triad:

33
Lung, Lymph node

Animal Models for Carney Triad or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Carney Triad:

37
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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52PubMed
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Articles related to Carney Triad:

(show all 36)
idTitleAuthorsYear
1
Carney triad. (23652673)
2013
2
Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. (23681078)
2013
3
Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad. (23894692)
2013
4
First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge. (22689797)
2012
5
Two out of three required: a case of incomplete Carney triad. (21791484)
2012
6
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
7
Images of a case of Carney triad by combined F-18 FDG PET/CT. (21716025)
2011
8
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. (20890271)
2011
9
Multicentric paragangliomas associated with Carney triad. (20336905)
2010
10
Images for diagnosis. An unusual case of Carney triad with high level catecholamine-secreting but no existence of extra-adrenal paraganglioma. (20193497)
2010
11
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
12
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. (20705254)
2010
13
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. (19935059)
2010
14
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)
2010
15
Incomplete Carney triad--a review of two cases. (19561114)
2009
16
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)
2009
17
Carney triad in an adult with aggressive behavior: the first case in Korea. (19881977)
2009
18
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
19
Multiple pulmonary chondromas in a young female patient: a component of Carney triad. (19461402)
2009
20
Respiratory symptoms in a boy revealing Carney triad. (17039489)
2008
21
Answer to case of the month # 131. Carney triad. (18533398)
2008
22
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. (18697369)
2008
23
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)
2007
24
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
25
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
26
Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. (16638708)
2006
27
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
28
Interventional radiology in Carney triad. (15108016)
2005
29
Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. (15735861)
2005
30
Carney triad: case report and molecular analysis of gastric tumor. (15712189)
2005
31
Getting the GIST of the Carney Triad: growth factors, rare tumors, and cellular respiration. (15383926)
2004
32
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)
2002
33
A case of the Carney triad. (15251665)
1999
34
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
1999
35
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
36
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Carney Triad

Search GEO for disease gene expression data for Carney Triad.

Pathways for genes affiliated with Carney Triad

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Sources:
50PathCards, 51PharmGKB, 61Tocris Bioscience, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 5Cell Signaling Technology
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Pathways related to Carney Triad according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6PDGFRA, KIT
2
Show member pathways
9.1ACTC1, DES
39.1ACTC1, PDGFRA, KIT
4
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.8SDHB, SDHD, SDHC, SDHA
5
Show member pathways
Alzheimers Disease38
8.8SDHB, SDHD, SDHC, SDHA
6
Show member pathways
8.8SDHD, SDHC, SDHA, SDHB
7
Show member pathways
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
8.8SDHA, SDHC, SDHD, SDHB
88.6ACTC1, PDPN, DES

Compounds for genes affiliated with Carney Triad

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45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Carney Triad according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1mibg4510.1SDHD, SDHB
2pkc 412459.9PDGFRA, KIT
3ag-1296459.9PDGFRA, KIT
4thenoyltrifluoroacetone45 1110.9SDHB, SDHA
5fumarate45 1110.8SDHC, SDHD, SDHB
6pazopanib51 1110.8PDGFRA, KIT
7Ubiquinol 8249.8SDHB, SDHA
8ponatinib51 1110.8KIT, PDGFRA
9sunitinib45 51 1111.8KIT, PDGFRA
10regorafenib51 1110.8KIT, PDGFRA
11orcein459.5DES, ACTC1
12toluidine459.5KIT, DES
13s 100459.5DES, ACTC1
14reticulin459.4DES, ACTC1
15mucicarmine459.4ACTC1, DES
16Fumaric acid249.3SDHA, SDHC, SDHD, SDHB
17succinic acid29 24 1111.3SDHB, SDHD, SDHC, SDHA
18iron-sulfur459.2SDHB, SDHD, SDHC, SDHA
19ubiquinone459.2SDHB, 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
24succinate459.2SDHB, SDHD, SDHC, SDHA
25FAD249.2SDHB, SDHD, SDHC, SDHA
26nad+459.0SDHA, SDHB, DES
27gold459.0KIT, PDPN, DES
28formaldehyde45 2410.0KIT, ACTC1, DES
29b 723459.0PDPN, ACTC1, DES
30creatinine458.8ACTC1, SDHB, DES
31lactate458.8KIT, SDHB, DES
32glycogen45 249.7KIT, ACTC1, SDHB, DES
33imatinib45 51 1110.7DES, ACTC1, PDGFRA, KIT
34testosterone45 61 24 1111.6KIT, ACTC1, SDHB, DES
35hematoxylin458.6DES, ACTC1, PDPN, KIT
36steroid458.5DES, SDHC, ACTC1, KIT
37thymidine45 249.5DES, PDGFRA, KIT
38glucose458.4KIT, ACTC1, SDHB, DES
39estrogen458.4DES, ACTC1, PDGFRA, KIT
40retinoic acid45 249.3DES, SDHC, ACTC1, PDGFRA, KIT
41paraffin458.2DES, ACTC1, PDGFRA, PDPN, KIT
42calcium45 51 24 1110.9DES, SDHB, ACTC1, PDGFRA, KIT
43iron45 248.9DES, SDHB, SDHD, SDHC, SDHA, ACTC1
44oxygen45 248.9DES, SDHB, SDHD, SDHC, SDHA, ACTC1
45tyrosine457.8DES, SDHB, ACTC1, PDGFRA, PDPN, KIT
46vegf457.5DES, SDHB, SDHC, ACTC1, PDGFRA, PDPN

GO Terms for genes affiliated with Carney Triad

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16Gene Ontology
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Cellular components related to Carney Triad according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:0057498.8SDHC, SDHA, SDHD, SDHB
2mitochondrionGO:0057398.8SDHB, SDHD, SDHC, SDHA
3external side of plasma membraneGO:0098978.8KIT, PDPN, PDGFRA
4mitochondrial inner membraneGO:0057438.7SDHD, SDHC, SDHA, SDHB

Biological processes related to Carney Triad according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:0090609.8SDHC, SDHB
2positive regulation of phospholipase C activityGO:0108639.8KIT, PDGFRA
3succinate metabolic processGO:0061059.7SDHB, SDHA
4cardiac myofibril assemblyGO:0550039.7PDGFRA, ACTC1
5positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.6PDGFRA, KIT
6positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.6KIT, PDGFRA
7cell chemotaxisGO:0603269.3KIT, PDGFRA
8positive regulation of cell migrationGO:0303359.2KIT, PDPN, PDGFRA
9tricarboxylic acid cycleGO:0060999.1SDHA, SDHC, SDHD, SDHB
10respiratory electron transport chainGO:0229049.1SDHB, SDHD, SDHC, SDHA
11cellular metabolic processGO:0442379.0SDHA, SDHC, SDHD, SDHB
12muscle filament slidingGO:0300499.0ACTC1, DES

Molecular functions related to Carney Triad according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:0480399.7SDHD, SDHB
2transmembrane receptor protein tyrosine kinase activityGO:0047149.6PDGFRA, KIT
3succinate dehydrogenase (ubiquinone) activityGO:0081779.5SDHB, SDHA
4succinate dehydrogenase activityGO:0001049.2SDHA, SDHC, SDHD
5electron carrier activityGO:0090559.1SDHC, SDHD, SDHB

Products for genes affiliated with Carney Triad

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Carney Triad

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet