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MCID: CRN055
MIFTS: 42

Carney Triad malady

Endocrine, Cancer, Gastrointestinal categories
21 symptoms, 9 genes, 3 tissues, 92 related diseases, clinical trials.

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 paraganglioma and gastrointestinal stromal tumor, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, acute abdominal pain/colic and acute diarrhea. An important gene associated with Carney Triad is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways are Cardiac Progenitor Differentiation and Pyruvate metabolism. The compounds mibg and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include lymph node, lung and pancreatic islet, and related mouse phenotypes are muscle and cardiovascular system.

Description from OMIM:47 604287

Aliases & Classifications for Carney Triad

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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Endocrine, Gastrointestinal
ICD10: 26


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

carney triad 43 45 49 47 61
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 92)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma30.8KIT, SDHD, SDHB, SDHC, SDHA
2gastrointestinal stromal tumor30.8PDGFRA, KIT
3adenoma30.2ACTC1
4pheochromocytoma30.2SDHD, SDHB
5neurofibromatosis30.2SDHD, SDHB
6adrenal adenoma30.2SDHD, SDHB, SDHC
7cushing's syndrome10.1
8harlequin syndrome10.1
9paragangliomas 1, with or without deafness10.1
10leiomyomatosis10.0SDHB
11acute leukemia10.0KIT
12germ cell tumors10.0KIT
13hepatocellular carcinoma10.0PDGFRA
14oligodendroglioma10.0PDGFRA
15infantile myofibromatosis10.0DES
16liposarcoma10.0DES
17myoepithelioma10.0ACTC1
18uterine carcinosarcoma10.0KIT
19ductal carcinoma in situ10.0PDPN
20sertoli cell tumor10.0DES
21meningioma10.0PDPN
22osteosarcoma10.0PDGFRA
23familial colorectal cancer10.0SDHD, SDHB
24benign mesothelioma10.0PDPN
25seminal vesicle tumor10.0SDHA
26gastrointestinal stromal tumor, somatic10.0PDGFRA, KIT
27mesenchymal cell neoplasm10.0PDGFRA, KIT
28mastocytosis10.0KIT, PDGFRA
29systemic mastocytosis10.0KIT, PDGFRA
30chondrosarcoma10.0DES, PDGFRA
31piebaldism10.0PDGFRA, KIT
32uterine sarcoma10.0KIT, DES
33chordoma10.0DES, PDGFRA
34chronic myelomonocytic leukemia10.0PDGFRA, KIT
35hereditary paraganglioma-pheochromocytoma syndromes10.0SDHC, SDHB, SDHD
36von hippel-lindau disease10.0SDHD, SDHB, SDHC
37paraganglioma and gastric stromal sarcoma10.0SDHD, SDHB, SDHC
38malignant peripheral nerve sheath tumor10.0PDGFRA, KIT
39carotid body tumor10.0SDHD, SDHB, SDHC
40dedifferentiated liposarcoma10.0KIT, DES
41multiple endocrine neoplasia type 2a10.0SDHD, SDHB, SDHC
42adenosarcoma10.0ACTC1, DES
43multiple endocrine neoplasia10.0SDHD, SDHB, SDHC
44wermer syndrome10.0SDHD, SDHB, SDHC
45epithelioid leiomyosarcoma10.0DES, ACTC1
46hyperparathyroidism10.0SDHC, SDHB, SDHD
47phaeochromocytoma10.0SDHD, SDHB, SDHC
48pseudosarcomatous fibromatosis10.0DES, ACTC1
49spindle cell carcinoma10.0DES, ACTC1
50spindle cell sarcoma10.0DES, ACTC1

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



Diseases related to carney triad

Clinical Features for Carney Triad

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47OMIM, 49Orphanet
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Clinical features from OMIM:

604287

Symptoms:

49 (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

Drugs & Therapeutics for Carney Triad

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch 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
Lymph node, Lung, Pancreatic islet

Animal Models for Carney Triad or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Carney Triad:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
muscle phenotype
MP:00053699.2ACTC1, PDGFRA
2
cardiovascular system phenotype
MP:00053857.3SDHD, ACTC1, KIT, DES, PDPN, PDGFRA
3
mortality/aging
MP:00107687.1ACTC1, KIT, DES, PDPN, PDGFRA, SDHC

Publications for Carney Triad

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51PubMed
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Articles related to Carney Triad:

(show all 47)
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
A case of bilateral multiple pulmonary chondroma: necessity of follow-up for Carney's triad. (22664948)
2012
6
Two out of three required: a case of incomplete Carney triad. (21791484)
2012
7
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
8
Images of a case of Carney triad by combined F-18 FDG PET/CT. (21716025)
2011
9
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. (20890271)
2011
10
Multicentric paragangliomas associated with Carney triad. (20336905)
2010
11
Images for diagnosis. An unusual case of Carney triad with high level catecholamine-secreting but no existence of extra-adrenal paraganglioma. (20193497)
2010
12
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
13
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. (20705254)
2010
14
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. (19935059)
2010
15
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)
2010
16
Incomplete Carney triad--a review of two cases. (19561114)
2009
17
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)
2009
18
Carney triad in an adult with aggressive behavior: the first case in Korea. (19881977)
2009
19
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
20
Multiple pulmonary chondromas in a young female patient: a component of Carney triad. (19461402)
2009
21
Respiratory symptoms in a boy revealing Carney triad. (17039489)
2008
22
Answer to case of the month # 131. Carney triad. (18533398)
2008
23
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. (18697369)
2008
24
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)
2007
25
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
26
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
27
Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. (16638708)
2006
28
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
29
Interventional radiology in Carney triad. (15108016)
2005
30
Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. (15735861)
2005
31
Carney triad: case report and molecular analysis of gastric tumor. (15712189)
2005
32
Getting the GIST of the Carney Triad: growth factors, rare tumors, and cellular respiration. (15383926)
2004
33
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)
2002
34
Typical and atypical Carney's triad presenting with malignant hypertension and papilledema. (11878780)
2001
35
A new variant of Carney's triad: phaeochromocytoma and chondrosarcoma. (11470935)
2001
36
A case of the Carney triad. (15251665)
1999
37
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
1999
38
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
39
Gastric stump carcinoma occurring in a patient with Carney's triad 38 years after partial gastrectomy for epithelioid leiomyosarcoma. (7864713)
1995
40
The concurrence of duodenal epithelioid stromal sarcoma, pulmonary chondromatous hamartoma, and nonfunctioning pancreatic islet cell tumor. A possible analogue of Carney's triad? (8060238)
1994
41
Neuroectodermal differentiation of the gastrointestinal tumors in the Carney triad. An ultrastructural and immunohistochemical study. (8317611)
1993
42
Gastric leiomyoblastoma associated with extraadrenal paraganglioma and pulmonary chondroma: a new case of Carney's triad. (8301486)
1993
43
Indolent gastric epithelioid leiomyosarcoma in Carney's Triad. (2261725)
1990
44
Carney's triad: gastric leiomyosarcoma, pulmonary chondroma and extra-adrenal paraganglioma in young females. (3028925)
1986
45
Gastric epitheloid leiomyomas, pulmonary chondroma, non-functioning metastasizing extra-adrenal paraganglioma and myxoma: a variant of Carney's triad. Report of a patient. (3990171)
1985
46
Pulmonary metastatic leiomyosarcoma coexisting with pulmonary chondroma in Carney's triad. (6307197)
1983
47
Pulmonary chondroma, extra-adrenal paraganglioma, and gastric leiomyosarcoma: Carney's triad. (6287121)
1982

Genetic Variations for Carney Triad

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Expression for genes affiliated with Carney Triad

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Sources:
1BioGPS, 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:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Carney Triad according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cardiac Progenitor Differentiation38
9.1PDGFRA, KIT, ACTC1
2
Pyruvate metabolism54
Hide members
8.8SDHC, SDHA, SDHB, SDHD
3
Citric acid cycle (TCA cycle)54
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8.8SDHC, SDHD, SDHA, SDHB
4
Metabolism54
Hide members
8.8SDHA, SDHD, SDHB, SDHC
5
Carbon metabolism30
8.8SDHA, SDHC, SDHB, SDHD
6
Glycolysis and gluconeogenesis (short map)12
Hide members
8.8SDHA, SDHD, SDHB, SDHC
7
Cytoskeletal Signaling4
8.6ACTC1, DES, PDPN

Compounds for genes affiliated with Carney Triad

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45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB, 60Tocris Bioscience
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Compounds related to Carney Triad according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1mibg459.9SDHD, SDHB
2pkc 412459.9KIT, PDGFRA
3ag-1296459.9KIT, PDGFRA
4thenoyltrifluoroacetone45 1110.8SDHB, SDHA
5fumarate45 1110.8SDHC, SDHB, SDHD
6Pazopanib119.8KIT, PDGFRA
7Ponatinib 119.7KIT, PDGFRA
8sunitinib45 50 1111.6KIT, PDGFRA
9Regorafenib119.5PDGFRA, KIT
10orcein459.5DES, ACTC1
11toluidine459.4KIT, DES
12s 100459.4ACTC1, DES
13reticulin459.3ACTC1, DES
14mucicarmine459.3DES, ACTC1
15UBIQUINONE-1119.2SDHA, SDHC, SDHB, SDHD
162-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol119.2SDHD, SDHB, SDHC, SDHA
17succinic acid29 11 2411.2SDHD, SDHB, SDHC, SDHA
18iron-sulfur459.2SDHD, SDHB, SDHC, SDHA
19ubiquinone459.2SDHD, SDHB, SDHC, SDHA
20succinate459.2SDHD, SDHB, SDHC, SDHA
21nad+459.0SDHA, SDHB, DES
22b 723459.0PDPN, DES, ACTC1
23gold458.9PDPN, DES, KIT
24formaldehyde45 249.9DES, KIT, ACTC1
25glycogen45 249.6SDHB, ACTC1, KIT, DES
26imatinib45 50 1110.6ACTC1, KIT, DES, PDGFRA
27hematoxylin458.5ACTC1, KIT, DES, PDPN
28testosterone45 60 11 2411.3SDHB, ACTC1, KIT, DES
29retinoic acid45 249.2PDGFRA, DES, KIT, ACTC1, SDHC
30paraffin458.1PDGFRA, PDPN, DES, KIT, ACTC1
31steroid458.0SDHC, ACTC1, KIT, DES
32iron45 248.9DES, ACTC1, SDHD, SDHB, SDHC, SDHA
33oxygen45 248.8DES, ACTC1, SDHD, SDHB, SDHC, SDHA
34tyrosine457.7PDGFRA, PDPN, DES, KIT, ACTC1, SDHB
35vegf457.4PDGFRA, PDPN, DES, KIT, ACTC1, SDHB

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 inner membraneGO:0057438.8SDHA, SDHC, SDHB, SDHD
2mitochondrial respiratory chain complex IIGO:0057498.5SDHA, SDHC, SDHB, SDHD

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:0090609.8SDHC, SDHB
2positive regulation of phospholipase C activityGO:0108639.8KIT, PDGFRA
3cardiac myofibril assemblyGO:0550039.7ACTC1, PDGFRA
4succinate metabolic processGO:0061059.6SDHA, SDHB
5cell chemotaxisGO:0603269.6KIT, PDGFRA
6positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.6PDGFRA, KIT
7positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.5PDGFRA, KIT
8tricarboxylic acid cycleGO:0060999.1SDHA, SDHC, SDHB, SDHD
9respiratory electron transport chainGO:0229049.0SDHD, SDHB, SDHC, SDHA
10cellular metabolic processGO:0442379.0SDHA, SDHC, SDHB, SDHD
11muscle filament slidingGO:0300498.8DES, ACTC1

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:0047149.6KIT, PDGFRA
3succinate dehydrogenase (ubiquinone) activityGO:0081779.5SDHA, SDHB
4succinate dehydrogenase activityGO:0001049.3SDHA, SDHC, SDHD
5electron carrier activityGO:0090559.1SDHC, SDHB, SDHD

Products for genes affiliated with Carney Triad

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carney Triad

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3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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