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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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 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 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:46 604287

Aliases & Classifications for Carney Triad

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet
See all sources

Carney Triad, Aliases & Descriptions:

Name: Carney Triad 42 44 48 46 62
 
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
carney triad:
Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 604287
ICD10 via Orphanet26 D44.8

Related Diseases for Carney Triad

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1gastrointestinal stromal tumor31.3KIT, PDGFRA
2paraganglioma and gastric stromal sarcoma30.8SDHD, SDHB, SDHC
3pheochromocytoma30.8SDHD, SDHB
4chondroma30.8SDHD, SDHC, PDGFRA, SDHB
5paraganglioma30.8DES, SDHB, ACTC1, SDHD
6neurofibromatosis30.8SDHD, SDHB
7adrenal cortical adenoma30.6SDHD, SDHB, SDHC
8sarcoma30.3DES, KIT, PDGFRA, ACTC1
9leiomyoma30.0PDGFRA, KIT, DES, ACTC1
10leiomyomatosis10.5SDHB
11infantile myofibromatosis10.4DES
12myelofibrosis10.4PDGFRA
13ductal carcinoma in situ10.4PDPN
14fasciitis10.4ACTC1
15familial colorectal cancer10.3SDHB, SDHD
16paragangliomas 510.3SDHA
17liposarcoma10.3DES
18mesenchymal cell neoplasm10.3KIT, PDGFRA
19piebaldism10.3PDGFRA, KIT
20kidney cancer10.3PDPN
21systemic mastocytosis10.3KIT, PDGFRA
22hypereosinophilic syndrome10.2PDGFRA, KIT
23pdgfrb-associated chronic eosinophilic leukemia10.2PDGFRA, KIT
24hereditary paraganglioma-pheochromocytoma syndromes10.2SDHD, SDHC, SDHB
25dedifferentiated liposarcoma10.2KIT, DES
26mastocytosis10.2PDGFRA, KIT
27carotid body tumor10.2SDHD, SDHC, SDHB
28malignant peripheral nerve sheath tumor10.2PDGFRA, KIT
29uterine sarcoma10.2DES, KIT
30phaeochromocytoma10.2SDHB, SDHC, SDHD
31multiple endocrine neoplasia type 2a10.2SDHD, SDHC, SDHB
32von hippel-lindau disease10.2SDHC, SDHB, SDHD
33multiple endocrine neoplasia10.2SDHB, SDHD, SDHC
34wermer syndrome10.2SDHB, SDHD, SDHC
35germinoma10.2KIT, PDPN
36hyperparathyroidism10.2SDHC, SDHD, SDHB
37chordoma10.2PDGFRA, DES
38polycythemia vera10.2PDGFRA, KIT
39adenosarcoma10.2DES, ACTC1
40hepatitis10.2
41adenoma10.2
42harlequin syndrome10.2
43paragangliomas 1, with or without deafness10.2
44epithelioid leiomyosarcoma10.2DES, ACTC1
45pseudosarcomatous fibromatosis10.2DES, ACTC1
46spindle cell carcinoma10.2DES, ACTC1
47spindle cell sarcoma10.2ACTC1, DES
48cutaneous fibrous histiocytoma10.2DES, ACTC1
49lymphangioma10.1ACTC1, PDPN
50fibrous histiocytoma10.1ACTC1, DES

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



Diseases related to carney triad

Symptoms for Carney Triad

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Clinical features from OMIM:

604287

Symptoms:

48 (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:

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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:

32
Lung, Lymph node

Animal Models for Carney Triad or affiliated genes

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MGI Mouse Phenotypes related to Carney Triad:

36
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 37)
idTitleAuthorsYear
1
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. (24859990)
2014
2
Carney triad. (23652673)
2013
3
Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. (23681078)
2013
4
Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad. (23894692)
2013
5
First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge. (22689797)
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
A case of the Carney triad. (15251665)
1999
35
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
1999
36
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
37
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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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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Pathways related to Carney Triad according to GeneCards/GeneDecks:

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 degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.8SDHB, SDHD, SDHC, SDHA
5
Show member pathways
Alzheimers Disease37
8.8SDHA, SDHC, SDHD, SDHB
6
Show member pathways
8.8SDHA, SDHC, SDHD, SDHB
7
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
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/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1mibg4410.1SDHD, SDHB
2pkc 412449.9PDGFRA, KIT
3ag-1296449.9PDGFRA, KIT
4thenoyltrifluoroacetone44 1110.9SDHB, SDHA
5fumarate44 1110.8SDHC, SDHD, SDHB
6pazopanib50 1110.8PDGFRA, KIT
7Ubiquinol 8249.8SDHB, SDHA
8ponatinib50 1110.8KIT, PDGFRA
9sunitinib44 50 1111.8KIT, PDGFRA
10regorafenib50 1110.8KIT, PDGFRA
11orcein449.5DES, ACTC1
12toluidine449.5KIT, DES
13s 100449.5DES, ACTC1
14reticulin449.4DES, ACTC1
15mucicarmine449.4ACTC1, DES
16Fumaric acid249.3SDHA, SDHC, SDHD, SDHB
17succinic acid28 24 1111.3SDHB, SDHD, SDHC, SDHA
18iron-sulfur449.2SDHB, SDHD, SDHC, SDHA
19ubiquinone449.2SDHB, 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
24succinate449.2SDHB, SDHD, SDHC, SDHA
25FAD249.2SDHB, SDHD, SDHC, SDHA
26nad+449.0SDHA, SDHB, DES
27gold449.0KIT, PDPN, DES
28formaldehyde44 2410.0KIT, ACTC1, DES
29b 723449.0PDPN, ACTC1, DES
30creatinine448.8ACTC1, SDHB, DES
31lactate448.8KIT, SDHB, DES
32glycogen44 249.7KIT, ACTC1, SDHB, DES
33imatinib44 50 1110.7DES, ACTC1, PDGFRA, KIT
34testosterone44 61 24 1111.6KIT, ACTC1, SDHB, DES
35hematoxylin448.6DES, ACTC1, PDPN, KIT
36steroid448.5DES, SDHC, ACTC1, KIT
37thymidine44 249.5DES, PDGFRA, KIT
38glucose448.4KIT, ACTC1, SDHB, DES
39estrogen448.4DES, ACTC1, PDGFRA, KIT
40retinoic acid44 249.3DES, SDHC, ACTC1, PDGFRA, KIT
41paraffin448.2DES, ACTC1, PDGFRA, PDPN, KIT
42calcium44 50 24 1110.9DES, SDHB, ACTC1, PDGFRA, KIT
43iron44 248.9DES, SDHB, SDHD, SDHC, SDHA, ACTC1
44oxygen44 248.9DES, SDHB, SDHD, SDHC, SDHA, ACTC1
45tyrosine447.8DES, SDHB, ACTC1, PDGFRA, PDPN, KIT
46vegf447.5DES, 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/GeneDecks:

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

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:0480399.7SDHB, SDHD
2transmembrane receptor protein tyrosine kinase activityGO:0047149.6KIT, PDGFRA
3succinate dehydrogenase (ubiquinone) activityGO:0081779.5SDHA, SDHB
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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Sources for Carney Triad

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet