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

Summaries for Carney Triad

Sources:
⁴⁶OMIM, ³²MalaCards
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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 ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity, mediastinal anomalies and cortico-adrenal hyperplasia/hypersecretion. 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 Metabolism. The compounds mibg and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are muscle and cardiovascular system.

Description from OMIM:⁴⁶ 604287

Aliases & Classifications for Carney Triad

Sources:
⁴²NIH Rare Diseases, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁴⁶OMIM, ⁶⁰UMLS, ²⁶ICD10 via Orphanet
See all sources

Classifications:

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

ICD10: ²⁶

Neoplasms

Neoplasms of uncertain or unknown behaviour

Neoplasm of uncertain or unknown behaviour of endocrine glands

Neoplasm of uncertain or unknown behaviour: Pluriglandular involvement

Characteristics (Orphanet epidemiological data):

⁴⁸

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

Aliases & Descriptions:

carney triad ⁴² ⁴⁴ ⁴⁸ ⁴⁶ ⁶⁰

gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma ⁴²

External Ids:

OMIM⁴⁶ 604287

ICD10 via Orphanet²⁶ D44.8

Related Diseases for Carney Triad

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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

(show top 50) (show all 93)

id	Related Disease	Score	Top Affiliating Genes
1	paraganglioma	30.8	SDHD, SDHB, SDHA, KIT, SDHC
2	gastrointestinal stromal tumor	30.7	KIT, PDGFRA
3	chondroma	30.6	PDGFRA, SDHD, SDHC, SDHB
4	sarcoma	30.5	DES, KIT, ACTC1, PDGFRA
5	adenoma	30.1	ACTC1
6	pheochromocytoma	30.1	SDHD, SDHB
7	neurofibromatosis	30.1	SDHB, SDHD
8	adrenal adenoma	30.1	SDHB, SDHD, SDHC
9	leiomyoma	30.1	PDGFRA, DES, KIT, ACTC1
10	hepatitis a	10.1
11	hepatitis	10.1
12	image syndrome	10.1
13	paragangliomas 1, with or without deafness	10.1
14	leiomyomatosis	10.0	SDHB
15	acute leukemia	10.0	KIT
16	germ cell tumors	10.0	KIT
17	hepatocellular carcinoma	10.0	PDGFRA
18	oligodendroglioma	10.0	PDGFRA
19	infantile myofibromatosis	10.0	DES
20	liposarcoma	10.0	DES
21	uterine carcinosarcoma	10.0	KIT
22	myoepithelioma	10.0	ACTC1
23	ductal carcinoma in situ	10.0	PDPN
24	sertoli cell tumor	10.0	DES
25	meningioma	10.0	PDPN
26	osteosarcoma	10.0	PDGFRA
27	familial colorectal cancer	10.0	SDHD, SDHB
28	benign mesothelioma	10.0	PDPN
29	seminal vesicle tumor	10.0	SDHA
30	gastrointestinal stromal tumor, somatic	10.0	KIT, PDGFRA
31	mesenchymal cell neoplasm	10.0	PDGFRA, KIT
32	mastocytosis	10.0	KIT, PDGFRA
33	systemic mastocytosis	10.0	KIT, PDGFRA
34	chondrosarcoma	10.0	PDGFRA, DES
35	piebaldism	10.0	KIT, PDGFRA
36	uterine sarcoma	10.0	KIT, DES
37	chordoma	10.0	PDGFRA, DES
38	chronic myelomonocytic leukemia	10.0	PDGFRA, KIT
39	hereditary paraganglioma-pheochromocytoma syndromes	10.0	SDHB, SDHD, SDHC
40	von hippel-lindau disease	10.0	SDHD, SDHC, SDHB
41	paraganglioma and gastric stromal sarcoma	10.0	SDHD, SDHB, SDHC
42	carotid body tumor	10.0	SDHD, SDHC, SDHB
43	dedifferentiated liposarcoma	10.0	DES, KIT
44	multiple endocrine neoplasia type 2a	10.0	SDHD, SDHC, SDHB
45	adenosarcoma	10.0	ACTC1, DES
46	malignant peripheral nerve sheath tumor	10.0	PDGFRA, KIT
47	multiple endocrine neoplasia	10.0	SDHD, SDHB, SDHC
48	wermer syndrome	10.0	SDHD, SDHC, SDHB
49	epithelioid leiomyosarcoma	10.0	ACTC1, DES
50	hyperparathyroidism	10.0	SDHC, SDHB, SDHD

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

Clinical Features for Carney Triad

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

Clinical features from OMIM:

604287

Symptoms:

⁴⁸ (show all 21)

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
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

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Carney Triad

Drug clinical trials:

Search ClinicalTrials for Carney Triad

Search NIH Clinical Center for Carney Triad

Search CenterWatch for Carney Triad

Genetic Tests for Carney Triad

Anatomical Context for Carney Triad

Sources:
³²MalaCards
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MalaCards organs/tissues related to Carney Triad:

³²

Lung

Animal Models for Carney Triad or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Carney Triad:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	9.2	PDGFRA, ACTC1
2	cardiovascular system phenotype	MP:0005385	7.3	SDHD, ACTC1, KIT, DES, PDPN, PDGFRA
3	mortality/aging	MP:0010768	7.1	SDHC, SDHD, ACTC1, KIT, DES, PDPN

Publications for Carney Triad

Genes related to Carney Triad

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
See all sources

Genes related to Carney Triad:

id	Symbol	Description	Score	Implication
1	SDHD	succinate dehydrogenase complex, subunit D, integral membrane protein	21.22	GeneCards inferred : Publications, Disorders (show sections)
2	SDHC	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	19.00	GeneCards inferred : Publications, Disorders (show sections)
3	SDHB	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	16.78	GeneCards inferred : Publications, Disorders (show sections)
4	PDGFRA	platelet-derived growth factor receptor, alpha polypeptide	14.55	GeneCards inferred : Publications, Disorders (show sections)
5	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	12.33	GeneCards inferred : Publications, Disorders (show sections)
6	ACTC1	actin, alpha, cardiac muscle 1	10.05	GeneCards inferred : Publications, Disorders (show sections)
7	SDHA	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	7.83	GeneCards inferred : Publications, Disorders (show sections)
8	DES	desmin	5.61	GeneCards inferred : Publications, Disorders (show sections)
9	PDPN	podoplanin	3.39	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Carney Triad disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	9	9	9
2	LSBio	-	-	9

Genetic Variations for Carney Triad

Expression for genes affiliated with Carney Triad

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

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

Sources:
³⁷NCBI BioSystems Database, ⁵³Reactome, ²⁹KEGG, ¹²EMD Millipore, ⁴Cell Signaling Technology
See all sources

Pathways related to Carney Triad according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Cardiac Progenitor Differentiation³⁷	9.1	ACTC1, KIT, PDGFRA
2	Metabolism⁵³ Hide members Metabolic pathways²⁹	8.8	SDHD, SDHB, SDHC, SDHA
3	Carbon metabolism²⁹	8.8	SDHD, SDHB, SDHC, SDHA
4	Pyruvate metabolism⁵³ Hide members Pyruvate metabolism and Citric Acid (TCA) cycle⁵³	8.8	SDHD, SDHB, SDHC, SDHA
5	Citric acid cycle (TCA cycle)⁵³ Hide members TCA Cycle³⁷ TCA cycle³⁷ Citrate cycle (TCA cycle)²⁹	8.8	SDHA, SDHC, SDHB, SDHD
6	Glycolysis and gluconeogenesis (short map)¹² Hide members Conversion of glucose to acetyl CoA and entry into the TCA cycle³⁷	8.8	SDHA, SDHC, SDHB, SDHD
7	Cytoskeletal Signaling⁴	8.6	ACTC1, DES, PDPN

Compounds for genes affiliated with Carney Triad

Sources:
⁴⁴Novoseek, ¹¹DrugBank, ⁴⁹PharmGKB, ²⁸IUPHAR, ²⁴HMDB, ⁵⁹Tocris Bioscience
See all sources

Compounds related to Carney Triad according to GeneCards/GeneDecks:

(show all 35)

id	Compound	Score	Top Affiliating Genes
1	mibg⁴⁴	9.9	SDHD, SDHB
2	pkc 412⁴⁴	9.9	KIT, PDGFRA
3	ag-1296⁴⁴	9.9	KIT, PDGFRA
4	thenoyltrifluoroacetone⁴⁴ ¹¹	10.8	SDHB, SDHA
5	fumarate⁴⁴ ¹¹	10.8	SDHC, SDHB, SDHD
6	Pazopanib¹¹	9.8	KIT, PDGFRA
7	Ponatinib ¹¹	9.7	KIT, PDGFRA
8	sunitinib⁴⁴ ⁴⁹ ¹¹	11.6	KIT, PDGFRA
9	Regorafenib¹¹	9.5	PDGFRA, KIT
10	orcein⁴⁴	9.5	DES, ACTC1
11	toluidine⁴⁴	9.4	KIT, DES
12	s 100⁴⁴	9.4	ACTC1, DES
13	reticulin⁴⁴	9.3	ACTC1, DES
14	mucicarmine⁴⁴	9.3	DES, ACTC1
15	UBIQUINONE-1¹¹	9.2	SDHA, SDHC, SDHB, SDHD
16	2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol¹¹	9.2	SDHD, SDHB, SDHC, SDHA
17	succinic acid²⁸ ¹¹ ²⁴	11.2	SDHD, SDHB, SDHC, SDHA
18	iron-sulfur⁴⁴	9.2	SDHD, SDHB, SDHC, SDHA
19	ubiquinone⁴⁴	9.2	SDHD, SDHB, SDHC, SDHA
20	succinate⁴⁴	9.2	SDHD, SDHB, SDHC, SDHA
21	nad+⁴⁴	9.0	SDHA, SDHB, DES
22	b 723⁴⁴	9.0	PDPN, DES, ACTC1
23	gold⁴⁴	8.9	PDPN, DES, KIT
24	formaldehyde⁴⁴ ²⁴	9.9	DES, KIT, ACTC1
25	glycogen⁴⁴ ²⁴	9.6	SDHB, ACTC1, KIT, DES
26	imatinib⁴⁴ ⁴⁹ ¹¹	10.6	ACTC1, KIT, DES, PDGFRA
27	hematoxylin⁴⁴	8.5	ACTC1, KIT, DES, PDPN
28	testosterone⁴⁴ ⁵⁹ ¹¹ ²⁴	11.3	SDHB, ACTC1, KIT, DES
29	retinoic acid⁴⁴ ²⁴	9.2	PDGFRA, DES, KIT, ACTC1, SDHC
30	paraffin⁴⁴	8.1	PDGFRA, PDPN, DES, KIT, ACTC1
31	steroid⁴⁴	8.0	SDHC, ACTC1, KIT, DES
32	iron⁴⁴ ²⁴	8.9	DES, ACTC1, SDHD, SDHB, SDHC, SDHA
33	oxygen⁴⁴ ²⁴	8.8	DES, ACTC1, SDHD, SDHB, SDHC, SDHA
34	tyrosine⁴⁴	7.7	PDGFRA, PDPN, DES, KIT, ACTC1, SDHB
35	vegf⁴⁴	7.4	PDGFRA, PDPN, DES, KIT, ACTC1, SDHB

GO Terms for genes affiliated with Carney Triad

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to Carney Triad according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial inner membrane	GO:005743	8.8	SDHA, SDHC, SDHB, SDHD
2	mitochondrial respiratory chain complex II	GO:005749	8.5	SDHA, SDHC, SDHB, SDHD

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

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	aerobic respiration	GO:009060	9.8	SDHC, SDHB
2	positive regulation of phospholipase C activity	GO:010863	9.8	KIT, PDGFRA
3	cardiac myofibril assembly	GO:055003	9.7	ACTC1, PDGFRA
4	succinate metabolic process	GO:006105	9.6	SDHB, SDHA
5	cell chemotaxis	GO:060326	9.6	PDGFRA, KIT
6	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	9.6	KIT, PDGFRA
7	positive regulation of phosphatidylinositol 3-kinase activity	GO:043552	9.5	KIT, PDGFRA
8	tricarboxylic acid cycle	GO:006099	9.1	SDHA, SDHC, SDHB, SDHD
9	respiratory electron transport chain	GO:022904	9.0	SDHD, SDHB, SDHC, SDHA
10	cellular metabolic process	GO:044237	9.0	SDHA, SDHC, SDHB, SDHD
11	muscle filament sliding	GO:030049	8.8	ACTC1, DES

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

id	Name	GO ID	Score	Top Affiliating Genes
1	ubiquinone binding	GO:048039	9.7	SDHD, SDHB
2	transmembrane receptor protein tyrosine kinase activity	GO:004714	9.6	KIT, PDGFRA
3	succinate dehydrogenase (ubiquinone) activity	GO:008177	9.5	SDHA, SDHB
4	succinate dehydrogenase activity	GO:000104	9.3	SDHA, SDHC, SDHD
5	electron carrier activity	GO:009055	9.1	SDHC, SDHB, SDHD