Carney Triad disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

MalaCards based summary: Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to paraganglioma and gastric stromal sarcoma and pheochromocytoma, 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, prostate and thyroid, and related mouse phenotypes are cardiovascular system and mortality/aging.

Related Diseases for Carney Triad

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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Diseases related to Carney Triad via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)

id	Related Disease	Score	Top Affiliating Genes
1	paraganglioma and gastric stromal sarcoma	29.5	SDHA, SDHB, SDHC, SDHD
2	pheochromocytoma	29.2	SDHA, SDHB, SDHC, SDHD
3	gastrointestinal stromal tumor	27.9	KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD
4	cowden syndrome 2	10.4	SDHA, SDHB
5	paragangliomas 5	10.4	SDHA, SDHB
6	albinism, oculocutaneous, type iv	10.4	SDHA, SDHB
7	paragangliomas 4	10.4	SDHA, SDHB
8	male reproductive organ cancer	10.4	SDHA, SDHB
9	cataract hutterite type	10.4	SDHB, SDHD
10	gallbladder adenoma	10.4	SDHB, SDHD
11	cataract 4, multiple types	10.4	SDHB, SDHD
12	epidermal appendage tumor	10.3	SDHB, SDHD
13	paraganglioma	10.3
14	renal tubular acidosis	10.3	KIT, SDHB
15	multiple endocrine neoplasia iib	10.3	SDHB, SDHD
16	myopathy with deficiency of iron-sulfur cluster assembly enzyme	10.3	SDHC, SDHD
17	acute salpingo-oophoritis	10.3	SDHA, SDHD
18	senile entropion	10.3	SDHA, SDHD
19	peptic ulcer disease	10.3	SDHB, SDHD
20	chondroma	10.2
21	eccrine papillary adenocarcinoma	10.1	KIT, PDPN
22	dermis tumor	10.1	KIT, PDPN
23	sarcoma	10.1
24	alcoholic cardiomyopathy	10.1	SDHA, SDHD
25	geroderma osteodysplastica	10.1	KIT, PDPN
26	paragangliomas 1, with or without deafness	10.1
27	familial stomach cancer	10.0	SDHB, SDHC, SDHD
28	mononeuritis of upper limb and mononeuritis multiplex	10.0	SDHB, SDHC, SDHD
29	retroperitoneal neuroblastoma	10.0	SDHB, SDHC, SDHD
30	carcinoid tumors, intestinal	10.0	SDHB, SDHC, SDHD
31	sporadic pheochromocytoma/secreting paraganglioma	10.0	SDHB, SDHC, SDHD
32	neurofibromatosis, familial spinal	10.0	SDHB, SDHC, SDHD
33	von hippel-lindau syndrome	10.0	SDHB, SDHC, SDHD
34	cerebellar liponeurocytoma	10.0	SDHB, SDHC, SDHD
35	steroid inherited metabolic disorder	10.0	SDHB, SDHC, SDHD
36	spastic ataxia 1	10.0	SDHB, SDHC, SDHD
37	extraneural perineurioma	10.0	KIT, PDGFRA
38	aggressive systemic mastocytosis	10.0	KIT, PDGFRA
39	multiple chemical sensitivity	10.0	KIT, PDGFRA
40	rhinitis	10.0	KIT, PDGFRA
41	bartholin's gland small cell carcinoma	10.0	KIT, PDGFRA
42	mast cell neoplasm	10.0	KIT, PDGFRA
43	pediatric fibrosarcoma	9.9	KIT, PDGFRA
44	ovary leiomyosarcoma	9.9	KIT, PDGFRA
45	caroli disease	9.9	KIT, PDGFRA
46	comedo carcinoma	9.9	KIT, PDGFRA
47	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	9.9	KIT, PDGFRA
48	bone angioendothelial sarcoma	9.9	KIT, PDGFRA
49	mastocytosis cutaneous with short stature conductive hearing loss and microtia	9.9	KIT, PDGFRA
50	small cell neuroendocrine carcinoma	9.9	KIT, PDGFRA

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

Symptoms for Carney Triad

Sources:
⁶¹The Human Phenotype Ontology, ⁵¹Orphanet
See all MalaCards sources

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

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ⁶⁵UMLS, ⁴³NDF-RT
See all MalaCards sources

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Carney Triad

Genetic Tests for Carney Triad

Anatomical Context for Carney Triad

Sources:
³³MalaCards
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MalaCards organs/tissues related to Carney Triad:

³³

Lung, Prostate, Thyroid, Liver, Bone, Neutrophil, Tongue

Animal Models for Carney Triad or affiliated genes

Sources:
³⁸MGI
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MGI Mouse Phenotypes related to Carney Triad:

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	7.6	KIT, PDGFRA, PDPN, SDHB, SDHD
2	mortality/aging	MP:0010768	6.4	KIT, PDGFRA, PDPN, SDHA, SDHB, SDHC

Publications for Carney Triad

Sources:
⁵⁴PubMed
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Articles related to Carney Triad:

(show all 41)

id	Title	Authors	Year
1	Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. (26173966)	Boikos S.A.... Stratakis C.A.	2015
2	Carney Triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. (25808178)	Szarek E.... Stratakis C.A.	2015
3	Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. (25423347)	Papadakis G.Z.... Stratakis C.A.	2015
4	13 cm GIST in 19-year-old patient, is it the first manifestation of Carney triad? (25603338)	Herranz-Bachiller M.T.... HernA!ndez-HernA!ndez J.M.	2015
5	Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. (24859990)	Haller F.... Agaimy A.	2014
6	Carney triad. (23652673)	Carney J.A.	2013
7	Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. (23681078)	Carney J.A.... Young W.F.	2013
8	Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad. (23894692)	Hong S.W.... Lee H.K.	2013
9	First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge. (22689797)	TaA^eb D.... Mundler O.	2012
10	Two out of three required: a case of incomplete Carney triad. (21791484)	Slevin F.... Sherlock D.	2012
11	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)	Otto C.... Haller F.	2011
12	Images of a case of Carney triad by combined F-18 FDG PET/CT. (21716025)	Kato K.... Naganawa S.	2011
13	SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. (20890271)	Gaal J.... de Krijger R.R.	2011
14	Multicentric paragangliomas associated with Carney triad. (20336905)	Kiser M.... von Allmen D.	2010
15	Images for diagnosis. An unusual case of Carney triad with high level catecholamine-secreting but no existence of extra-adrenal paraganglioma. (20193497)	Qiao G.B.... Huang W.J.	2010
16	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)	Agaimy A.... Carney J.A.	2010
17	Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. (20705254)	Chen C.F.... Hsieh J.S.	2010
18	Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. (19935059)	Zhang L.... Carney J.A.	2010
19	Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)	Alrashdi I.... Hodgson S.V.	2010
20	Incomplete Carney triad--a review of two cases. (19561114)	Sawhney S.A.... Dempsey O.J.	2009
21	Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)	Carney J.A.	2009
22	Carney triad in an adult with aggressive behavior: the first case in Korea. (19881977)	Song H.J.... Park C.K.	2009
23	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)	Stratakis C.A.... Carney J.A.	2009
24	Multiple pulmonary chondromas in a young female patient: a component of Carney triad. (19461402)	Qiao G.B.... Wu Y.L.	2009
25	Respiratory symptoms in a boy revealing Carney triad. (17039489)	Delemarre L.... Verschuur A.	2008
26	Answer to case of the month # 131. Carney triad. (18533398)	Colapinto M.N.... Weiser W.J.	2008
27	A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. (18697369)	Alberto V.O.... Carney J.A.	2008
28	Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)	Rodriguez F.J.... Carney J.A.	2007
29	Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. (17535989)	Matyakhina L.... Stratakis C.A.	2007
30	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)	Agaimy A.... Schneider-Stock R.	2007
31	Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. (16638708)	BA1mming P.... Ahlman H.	2006
32	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)	Knop S.... Kroeber S.M.	2006
33	Interventional radiology in Carney triad. (15108016)	Vogl T.J.... Wurster M.G.	2005
34	Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. (15735861)	Horenstein M.G.... Tucker J.A.	2005
35	Carney triad: case report and molecular analysis of gastric tumor. (15712189)	Diment J.... Colecchia M.	2005
36	Getting the GIST of the Carney Triad: growth factors, rare tumors, and cellular respiration. (15383926)	Amieux P.S.	2004
37	Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)	Carney J.A.... Stratakis C.A.	2002
38	A case of the Carney triad. (15251665)	Jabbour S.A.... Miller J.L.	1999
39	The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)	Appelman H.D.	1999
40	Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)	Carney J.A.	1999
41	Neuroectodermal differentiation of the gastrointestinal tumors in the Carney triad. An ultrastructural and immunohistochemical study. (8317611)	Perez-Atayde A.R.... Kozakewich H.W.	1993

Genes related to Carney Triad

Sources:
²⁰GeneCards, ⁷Cosmic, ⁵Clinvar, ⁴⁷Novoseek
See all MalaCards sources

Genes related to Carney Triad:

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	SDHC	Succinate Dehydrogenase Complex Subunit C	52.59	Pathogenic ⁵ Novoseek inferred ⁴⁷ GeneCards inferred via : Publications (show sections)	19522821
2	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	52.11	Pathogenic ⁵ Novoseek inferred ⁴⁷ GeneCards inferred via : Publications (show sections)	19522821
3	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	42.91	Pathogenic ⁵ GeneCards inferred via : Publications (show sections)
4	SDHD	Succinate Dehydrogenase Complex Subunit D	26.95	Novoseek inferred ⁴⁷ GeneCards inferred via : Publications (show sections)	19522821
5	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	20.28	Novoseek inferred ⁴⁷	17193822, 17549339, 18312355 more 17021135
6	KIT	KIT Proto-Oncogene Receptor Tyrosine Kinase	19.90	Novoseek inferred ⁴⁷	17549339, 18312355, 17021135
7	PDPN	Podoplanin	7.91	GeneCards inferred via : Publications (show sections)

Variations for Carney Triad

Sources:
⁵Clinvar
See all MalaCards sources

Clinvar genetic disease variations for Carney Triad:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SDHA	NM_004168.3(SDHA): c.91C> T (p.Arg31Ter)	single nucleotide variant	Likely pathogenic, Pathogenic	rs142441643	GRCh38	Chr 5, 223509: 223509
2	SDHB	NM_003000.2(SDHB): c.380T> G (p.Ile127Ser)	single nucleotide variant	Likely pathogenic, Pathogenic	rs786201095	GRCh37	Chr 1, 17355138: 17355138
3	SDHC	NM_003001.3(SDHC): c.405+1G> A	single nucleotide variant	Likely pathogenic, Pathogenic	rs587776653	GRCh37	Chr 1, 161326631: 161326631

Expression for genes affiliated with Carney Triad

Sources:
¹⁷Gene Expression Omnibus DataSets
See all MalaCards sources

Search GEO for disease gene expression data for Carney Triad.

Pathways for genes affiliated with Carney Triad

Sources:
⁵²PathCards, ³⁹NCBI BioSystems Database, ³¹KEGG, ⁵⁷Reactome, ⁵³PharmGKB
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Cardiac Progenitor Differentiation³⁹	9.0	KIT, PDGFRA
2	Central carbon metabolism in cancer³¹	9.0	KIT, PDGFRA
3	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.⁵⁷ Show member pathways Huntingtons disease³¹ Parkinsons disease³¹ The citric acid (TCA) cycle and respiratory electron transport⁵⁷ Respiratory electron transport⁵⁷ Complex I biogenesis⁵⁷ Oxidative phosphorylation³¹ Oxidative phosphorylation³⁹ Electron Transport Chain³⁹ Formation of ATP by chemiosmotic coupling⁵⁷	8.7	SDHA, SDHB, SDHC, SDHD
4	Alzheimers disease³¹ ³⁹ Show member pathways Non-alcoholic fatty liver disease (NAFLD)³¹ Alzheimers Disease³⁹	8.7	SDHA, SDHB, SDHC, SDHD
5	Pyruvate metabolism and Citric Acid (TCA) cycle⁵⁷ Show member pathways Interconversion of 2-oxoglutarate and 2-hydroxyglutarate⁵⁷ Pyruvate metabolism⁵⁷ TCA Cycle³⁹ Citric acid cycle (TCA cycle)⁵⁷ Regulation of pyruvate dehydrogenase (PDH) complex⁵⁷ NAD phosphorylation and dephosphorylation³⁹	8.7	SDHA, SDHB, SDHC, SDHD
6	Carbon metabolism³¹ Show member pathways Biosynthesis of amino acids³¹ 2-Oxocarboxylic acid metabolism³¹ Pentose Phosphate Pathway (Erythrocyte)⁵³ formaldehyde oxidation³⁹ pentose phosphate pathway (oxidative branch)³⁹	8.7	SDHA, SDHB, SDHC, SDHD
7	Citrate cycle (TCA cycle)³¹ Show member pathways superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle³⁹ TCA cycle³⁹ pyruvate decarboxylation to acetyl CoA³⁹	8.7	SDHA, SDHB, SDHC, SDHD

GO Terms for genes affiliated with Carney Triad

Sources:
¹⁸Gene Ontology
See all MalaCards sources

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

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	succinate metabolic process	GO:0006105	10.1	SDHA, SDHB
2	positive regulation of phospholipase C activity	GO:0010863	9.4	KIT, PDGFRA
3	phosphatidylinositol-mediated signaling	GO:0048015	9.3	KIT, PDGFRA
4	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.2	KIT, PDGFRA
5	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	9.1	KIT, PDGFRA
6	cell chemotaxis	GO:0060326	9.0	KIT, PDGFRA
7	positive regulation of phosphatidylinositol 3-kinase activity	GO:0043552	8.9	KIT, PDGFRA

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

id	Name	GO ID	Score	Top Affiliating Genes
1	succinate dehydrogenase (ubiquinone) activity	GO:0008177	9.8	SDHA, SDHB
2	electron carrier activity	GO:0009055	9.5	SDHB, SDHD
3	oxidoreductase activity, acting on the CH-CH group of donors	GO:0016627	9.3	SDHA, SDHC