Carney Triad malady

MalaCards: Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to neurofibromatosis and paraganglioma. An important gene associated with Carney Triad is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways are Citric acid cycle (TCA cycle) and Citrate cycle (TCA cycle). The compounds thenoyltrifluoroacetone and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include lymph node, and related mouse phenotypes are muscle and cardiovascular system.

carney triad 30 32 43 gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma 30

Diseases related to carney triad by text searches and GeneDecks gene sharing:

(show top 50)    (show all 165)

id	Related Disease	Score	Top Affiliating Genes
1	neurofibromatosis	29.9	SDHB, SDHD
2	paraganglioma	28.6	ACTC1, SDHD, SDHC, SDHB, SDHA, KIT
3	leiomyoma	28.1	KIT, PDGFRA, ACTC1, DES
4	chondroma	27.5	PDGFRA, KIT, SDHA, SDHB, SDHC, SDHD
5	gastrointestinal stromal tumor	27.1	DES, ACTC1, PDGFRA, SDHD, SDHC, SDHB
6	pheochromocytoma	27.1	DES, SDHD, SDHC, SDHB, SDHA, KIT
7	sarcoma	24.5	DES, ACTC1, PDPN, PDGFRA, SDHD, SDHC
8	cowden-like syndrome	13.3	SDHB, SDHD
9	cranial nerve palsy	13.2	SDHD, SDHC
10	gastrointestinal stromal tumor, somatic	13.2	PDGFRA, KIT
11	fibrosarcoma of bone	13.2	PDGFRA, KIT
12	piebaldism	13.1	PDGFRA, KIT
13	seminal vesicle tumor	13.1	SDHB, SDHA
14	chronic myelomonocytic leukemia	13.1	PDGFRA, KIT
15	gastric leiomyosarcoma	13.0	DES, PDGFRA
16	lipomatosis	13.0	SDHB, ACTC1
17	malignant peripheral nerve sheath tumor	13.0	KIT, PDGFRA
18	polymorphous low-grade adenocarcinoma	12.9	ACTC1, KIT
19	paraganglioma and gastric stromal sarcoma	12.9	SDHD, SDHC, SDHB
20	hereditary paraganglioma-pheochromocytoma syndromes	12.9	SDHD, SDHC, SDHB
21	carotid body tumor	12.9	SDHD, SDHC, SDHB
22	familial medullary thyroid carcinoma	12.9	SDHB, SDHC, SDHD
23	familial renal cell carcinoma	12.9	SDHD, SDHC, SDHB
24	multiple endocrine neoplasia type 2a	12.9	SDHD, SDHC, SDHB
25	retroperitoneal leiomyosarcoma	12.9	DES, KIT
26	wermer syndrome	12.9	SDHD, SDHC, SDHB
27	adrenal adenoma	12.9	SDHB, SDHC, SDHD
28	malignant giant cell tumor of soft parts	12.9	DES, ACTC1
29	infantile myofibromatosis	12.9	DES, ACTC1
30	glomangiomyoma	12.9	DES, ACTC1
31	embryonal sarcoma	12.9	DES, KIT
32	myofibroma	12.9	ACTC1, DES
33	merkel cell carcinoma	12.9	KIT, SDHD, PDGFRA
34	intravenous leiomyomatosis	12.9	DES, ACTC1
35	pseudosarcomatous fibromatosis	12.9	DES, ACTC1
36	ocular melanoma	12.9	KIT, PDGFRA
37	leigh disease	12.8	SDHA, SDHB
38	glomangioma	12.8	ACTC1, DES
39	cystic teratoma	12.8	ACTC1, KIT
40	epithelioid leiomyosarcoma	12.8	DES, ACTC1
41	adrenal cortical carcinoma	12.8	DES, ACTC1
42	spindle cell sarcoma	12.8	DES, ACTC1
43	spindle cell lipoma	12.8	DES, ACTC1
44	ossifying fibromyxoid tumor	12.8	DES, ACTC1
45	myoma	12.8	DES, ACTC1
46	botryoid rhabdomyosarcoma	12.8	DES, ACTC1
47	benign metastasizing leiomyoma	12.8	DES, ACTC1
48	cutaneous fibrous histiocytoma	12.8	DES, ACTC1
49	cystic nephroma	12.8	ACTC1, DES
50	mesenchymal chondrosarcoma	12.8	DES, ACTC1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to carney triad:

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MGI Mouse Phenotypes related to carney triad:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	7.6	KIT, PDGFRA, PDPN, ACTC1, DES
2	cardiovascular system phenotype	MP:0005385	7.0	KIT, DES, ACTC1, PDPN, PDGFRA, SDHD

Articles related to carney triad:

id	Title	Authors	Year	Affiliating Genes
1	SDHB immunohistochemistry: a useful tool in the diagn osis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. (20890271)	Gaal J.... de Krijger R.R.	2011	SDHB
2	Carney triad versus Carney Stratakis syndrome: two ca ses which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)	Alrashdi I.... Hodgson S.V.	2010	SDHB
3	Lymphatics and D2-40/podoplanin expression in gastroi ntestinal 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	PDPN
4	Carney triad in an adult with aggressive behavior: th e first case in Korea. (19881977)	Song H.J.... Park C.K.	2009	PDGFRA, SDHB, SDHC
5	The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gas tric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clini cal implications. (19522824)	Stratakis C.A.... Carney J.A.	2009	SDHA, SDHC, SDHD
6	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	PDGFRA, KIT
7	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	SDHB, SDHC, SDHD
8	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	KIT
9	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	PDGFRA, KIT, DES
10	Carney triad: case report and molecular analysis of gastric tumor. (15712189)	Diment J.... Colecchia M.	2005	PDGFRA, KIT

Genes related to carney triad according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SDHD	succinate dehydrogenase complex, subunit D, integral membrane protein	11.0	Publications
2	SDHC	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	11.0	Publications
3	SDHB	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	11.0	Publications
4	PDGFRA	platelet-derived growth factor receptor, alpha polypeptide	11.0	Publications
5	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	11.0	Publications
6	SDHA	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	11.0	Publications
7	PDPN	podoplanin	11.0	Publications
8	DES	desmin	11.0	Publications
9	ACTC1	actin, alpha, cardiac muscle 1	11.0	Publications

Pathways related to carney triad according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Citric acid cycle (TCA cycle)38	9.0	SDHD, SDHC, SDHB, SDHA
2	Citrate cycle (TCA cycle)20	9.0	SDHD, SDHC, SDHB, SDHA
3	Parkinsons disease20	8.9	SDHA, SDHB, SDHC, SDHD
4	Huntingtons disease20	8.9	SDHD, SDHC, SDHB, SDHA
5	Oxidative phosphorylation20	8.8	SDHD, SDHC, SDHB, SDHA
6	Alzheimers disease20	8.6	SDHA, SDHB, SDHC, SDHD

Compounds related to carney triad according to GeneDecks:

(show all 32)

id	Compound	Score	Top Affiliating Genes
1	thenoyltrifluoroacetone32 9 9	11.9	SDHA, SDHB
2	pkc 41232	9.9	PDGFRA, KIT
3	mibg32	9.8	SDHB, SDHD
4	ag-129632	9.8	KIT, PDGFRA
5	fumarate32 9 9	11.8	SDHD, SDHC, SDHB
6	sunitinib32 9 9	11.5	PDGFRA, KIT
7	orcein32	9.5	DES, ACTC1
8	s 10032	9.4	DES, ACTC1
9	toluidine32	9.4	DES, KIT
10	UBIQUINONE-19 9	10.3	SDHD, SDHC, SDHB, SDHA
11	2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol9 9	10.3	SDHD, SDHA, SDHB, SDHC
12	iron-sulfur32	9.3	SDHB, SDHA, SDHD, SDHC
13	Succinic acid9 18 9	11.3	SDHA, SDHB, SDHD, SDHC
14	ubiquinone32	9.3	SDHA, SDHC, SDHB, SDHD
15	reticulin32	9.3	DES, ACTC1
16	succinate32	9.3	SDHA, SDHB, SDHC, SDHD
17	mucicarmine32	9.2	ACTC1, DES
18	nad+32	9.1	SDHB, SDHA, DES
19	b 72332	8.8	PDPN, ACTC1, DES
20	gold32	8.8	KIT, PDPN, DES
21	formaldehyde32 18	9.7	KIT, ACTC1, DES
22	imatinib32 34 9 9	11.6	ACTC1, PDGFRA, KIT, DES
23	glycogen32 18	9.6	ACTC1, KIT, SDHB, DES
24	hematoxylin32	8.4	KIT, DES, PDPN, ACTC1
25	steroid32	8.3	ACTC1, DES, KIT, SDHC
26	retinoic acid32 42 18	10.2	PDGFRA, SDHC, KIT, ACTC1, DES
27	testosterone32 9 18 9	11.0	SDHB, ACTC1, DES, KIT
28	paraffin32	8.0	DES, PDPN, PDGFRA, KIT, ACTC1
29	iron32 18	8.9	SDHB, SDHC, SDHD, ACTC1, DES, SDHA
30	oxygen32 18	8.9	SDHA, SDHB, SDHC, SDHD, DES, ACTC1
31	tyrosine32	7.5	DES, KIT, PDGFRA, PDPN, SDHB, ACTC1
32	vegf32	7.3	DES, ACTC1, PDPN, PDGFRA, KIT, SDHB

Cellular components related to carney triad according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial inner membrane	GO:005743	8.9	SDHA, SDHB, SDHC, SDHD
2	mitochondrial respiratory chain complex II	GO:005749	8.6	SDHA, SDHB, SDHC, SDHD

Biological processes related to carney triad according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of phospholipase C activity	GO:010863	9.8	KIT, PDGFRA
2	aerobic respiration	GO:009060	9.8	SDHC, SDHB
3	succinate metabolic process	GO:006105	9.7	SDHB, SDHA
4	cardiac myofibril assembly	GO:055003	9.6	ACTC1, PDGFRA
5	cell chemotaxis	GO:060326	9.5	KIT, PDGFRA
6	positive regulation of phosphatidylinositol 3-kinase activity	GO:043552	9.3	PDGFRA, KIT
7	muscle filament sliding	GO:030049	9.1	ACTC1, DES
8	tricarboxylic acid cycle	GO:006099	9.1	SDHA, SDHB, SDHC, SDHD
9	respiratory electron transport chain	GO:022904	9.1	SDHD, SDHC, SDHB, SDHA

Molecular functions related to carney triad according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ubiquinone binding	GO:048039	9.7	SDHB, SDHD
2	transmembrane receptor protein tyrosine kinase activity	GO:004714	9.6	PDGFRA, KIT
3	succinate dehydrogenase (ubiquinone) activity	GO:008177	9.6	SDHB, SDHA
4	succinate dehydrogenase activity	GO:000104	9.4	SDHA, SDHC, SDHD
5	electron carrier activity	GO:009055	9.1	SDHB, SDHC, SDHD