MCID: CRN055
MIFTS: 44

Carney Triad

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Carney Triad

MalaCards integrated aliases for Carney Triad:

Name: Carney Triad 57 20 58 54 6 70
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 57 20

Characteristics:

Orphanet epidemiological data:

58
carney triad
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Carney Triad

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139411 Definition A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. Epidemiology Less than 100 cases have been reported worldwide. Carney's triad primarily affects young women (mean age of onset 20 years). Clinical description Most patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Additional features include headaches, fatigue, anorexia, hypertension and tachycardia. Pulmonary chondromas (well-differentiated benign cartilaginous tumors) occur in approximately 80% of cases. They are often asymptomatic and may be unilateral (83%) or bilateral (32%). Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. Etiology The etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations ) has been detected in some patients with Carney's triad, while SDHD, SDHB or SDHC germline mutations have been found in some patients with Carney-Stratakis dyad (see this term). Diagnostic methods Gastroscopy, radiography and computing tomography are the main diagnostic methods. SDH genetic testing is available. The absence of a paraganglioma, which usually completes the triad after several years (median: 6 years), does not allow exclusion of the diagnosis of Carney's triad. Iodine 131-metoiodobenzylguanidine scintigraphy and OctrescanR may help to detect paragangliomas. Differential diagnosis The differential diagnosis should include Carney-Stratakis dyad. Management and treatment The treatment of choice for GIST and its metastases (overall rate: 50%) is surgical resection. GIST associated with Carney's triad are mostly indolent. Recurrence after surgery is found in approximately 50% of patients, with a mean interval after the initial presentation of 12 years. Imatinib mesylate, an effective agent in the treatment of GIST, is under investigation as an adjuvant treatment. Paragangliomas require surgical resection; chemotherapy and metabolic radiotherapy may be used in malignant cases (overall rate: 10%). Surgery for pulmonary chondromas is indicated only in case of impaired lung function. Approaches targeting SDH function may potentially be useful in treating patients with Carney's triad who show SDH deficiencies. However, at present, there is no drug that restores SDH function. Life-long follow-up should be offered to all patients with Carney's triad.

MalaCards based summary : Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to hereditary paraganglioma-pheochromocytoma syndromes and paragangliomas 1. An important gene associated with Carney Triad is SDHC (Succinate Dehydrogenase Complex Subunit C), and among its related pathways/superpathways are Prion disease and Carbon metabolism. Affiliated tissues include lymph node, bone and heart, and related phenotypes are nausea and vomiting and fatigue

More information from OMIM: 604287

Related Diseases for Carney Triad

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

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 31.2 SDHD SDHC SDHB SDHA
2 paragangliomas 1 31.1 SDHD SDHC SDHB SDHA
3 pheochromocytoma 30.6 SDHD SDHC SDHB SDHA KIT
4 gastrointestinal stromal tumor 30.2 SDHD SDHC SDHB SDHA PDGFRA KIT
5 paraganglioma and gastric stromal sarcoma 30.1 SDHD SDHC SDHB SDHA PDGFRA KIT
6 neurofibromatosis 30.0 SDHD SDHB PDGFRA
7 paraganglioma 29.9 SDHD SDHC SDHB SDHA KIT
8 mesenchymal cell neoplasm 29.8 PDGFRA KIT
9 multiple endocrine neoplasia 29.8 SDHD SDHC SDHB
10 von hippel-lindau syndrome 29.8 SDHD SDHC SDHB
11 mitochondrial complex ii deficiency, nuclear type 1 29.4 SDHD SDHC SDHB SDHA
12 chondroma 29.3 SDHD SDHC SDHB SDHA PDGFRA KIT
13 neurofibromatosis, type i 28.9 SDHD SDHC SDHB PDGFRA KIT
14 gastric leiomyosarcoma 28.7 SDHD SDHC SDHB SDHA PDGFRA KIT
15 nonsyndromic paraganglioma 10.6
16 leiomyosarcoma 10.3
17 tumor predisposition syndrome 10.2
18 cutaneous telangiectasia and cancer syndrome, familial 10.2
19 leiomyoma 10.2
20 adenoma 10.2
21 inherited cancer-predisposing syndrome 10.2
22 spastic paraplegia 38, autosomal dominant 10.1 SDHB SDHA
23 hereditary renal cell carcinoma 10.1 SDHB SDHA
24 sporadic pheochromocytoma/secreting paraganglioma 10.1 SDHD SDHB
25 plethora of newborn 10.1 SDHD SDHB
26 cranial nerve palsy 10.1 SDHD SDHB
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
28 paragangliomas 3 10.1
29 adrenal cortical adenoma 10.1
30 adrenal gland pheochromocytoma 10.1
31 sarcoma 10.1
32 spindle cell sarcoma 10.1
33 47,xyy 10.1
34 autonomic nervous system benign neoplasm 10.1 SDHD SDHB
35 peripheral nervous system benign neoplasm 10.1 SDHD SDHB
36 multiple endocrine neoplasia, type iib 10.1 SDHD SDHB
37 dermis tumor 10.1 SDHD SDHA
38 glomus tumor 10.1 SDHD SDHB
39 neurofibromatosis, type ii 10.0 SDHD SDHB
40 quadriplegia 10.0 SDHD SDHA
41 spastic quadriplegia 10.0 SDHD SDHA
42 carney complex variant 10.0 SDHD SDHB
43 nail disorder, nonsyndromic congenital, 1 10.0 PDPN PDGFRA
44 paragangliomas 4 9.9
45 gastric cancer, hereditary diffuse 9.9
46 carney complex, type 1 9.9
47 paragangliomas 2 9.9
48 paragangliomas 5 9.9
49 deficiency anemia 9.9
50 fibroma 9.9

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



Diseases related to Carney Triad

Symptoms & Phenotypes for Carney Triad

Human phenotypes related to Carney Triad:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
4 leiomyosarcoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100243
5 gastrointestinal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002239
6 pheochromocytoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002666
7 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
8 gastrointestinal stroma tumor 58 31 hallmark (90%) Very frequent (99-80%) HP:0100723
9 ascites 58 31 frequent (33%) Frequent (79-30%) HP:0001541
10 mediastinal lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0100721
11 tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0001649
12 pulmonary infiltrates 58 31 frequent (33%) Frequent (79-30%) HP:0002113
13 paraganglioma 58 31 frequent (33%) Frequent (79-30%) HP:0002668
14 adrenal overactivity 58 31 frequent (33%) Frequent (79-30%) HP:0002717
15 adrenocortical adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0008256
16 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
17 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
18 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
19 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
20 arrhythmia 58 Occasional (29-5%)
21 lymphadenopathy 58 Occasional (29-5%)

Clinical features from OMIM®:

604287 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Carney Triad:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 KIT PDGFRA PDPN SDHB SDHC SDHD
2 homeostasis/metabolism MP:0005376 9.7 KIT PDGFRA PDPN SDHA SDHB SDHC
3 mortality/aging MP:0010768 9.5 KIT PDGFRA PDPN SDHA SDHB SDHC
4 neoplasm MP:0002006 9.02 KIT PDGFRA SDHB SDHC SDHD

Drugs & Therapeutics for Carney Triad

Search Clinical Trials , NIH Clinical Center for Carney Triad

Genetic Tests for Carney Triad

Anatomical Context for Carney Triad

MalaCards organs/tissues related to Carney Triad:

40
Lymph Node, Bone, Heart, Small Intestine, Colon, Liver, Thyroid

Publications for Carney Triad

Articles related to Carney Triad:

(show top 50) (show all 122)
# Title Authors PMID Year
1
The Carney Triad: a lesson in observation, creativity, and perseverance. 57 61
10377941 1999
2
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. 57 61
10377927 1999
3
Carney's triad: guidelines for management. 57
3361958 1988
4
The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review. 57
6843355 1983
5
The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma. 57
865533 1977
6
Multiple endocrine neoplasias: advances and challenges for the future. 61 54
19522821 2009
7
Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. 61 54
18312355 2008
8
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. 54 61
17549339 2007
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. 54 61
17021135 2006
10
KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). 54 61
17193822 2006
11
18F-FDG PET/CT Monitoring of Tumor Response to Tyrosine Kinase Inhibitors and Alkylating Drugs in an SDH-Deficient GIST. 61
33782316 2021
12
Incomplete Carney Triad, a surgical case of a rare syndrome. 61
33757739 2021
13
SDHC Methylation Pattern in Patients With Carney Triad. 61
33624983 2021
14
Carney triad: A case report, characteristics and literature review of this rare entity. 61
33422846 2021
15
Succinate dehydrogenase-deficient gastrointestinal stromal tumor of stomach diagnosed by endoscopic ultrasound-guided fine-needle biopsy: Report of a distinct subtype in cytology. 61
32870601 2020
16
Carney-Stratakis Syndrome presenting as occult mediastinal paraganglioma. 61
32670454 2020
17
Carney Triad. 61
33778605 2020
18
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors. 61
31169996 2020
19
[Wild-type gastroinestinal stromal tumors]. 61
32063345 2020
20
Multiple gastrointestinal stromal tumors with exon 11 mutation of the c-KIT gene in a young male without family history. 61
32782703 2020
21
Loss of succinate dehydrogenase B immunohistochemical expression distinguishes pulmonary chondromas from hamartomas. 61
31236950 2019
22
Paragangliomas in Carney-Stratakis Syndrome. 61
31174229 2019
23
Multiple gastrointestinal stromal tumors: analysis of clinicopathologic characteristics and prognosis of 20 patients. 61
31413638 2019
24
Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome. 61
28739378 2018
25
The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms. 61
29339836 2018
26
Succinate dehydrogenase (SDH)-deficient neoplasia. 61
29239034 2018
27
68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Extra-adrenal Paraganglioma in a Case of Complete Carney Triad. 61
29076898 2017
28
[Carney triad: Report of one case]. 61
28749001 2017
29
Hamartomas from head to toe: an imaging overview. 61
27936889 2017
30
[Gastrointestinal stromal tumors of the stomach and precursor lesions]. 61
28243730 2017
31
Gastric gastrointestinal stromal tumor with osseous differentiation and stromal calcification: A case report and review of literature. 61
29318014 2017
32
[Carney triad]. 61
28931294 2017
33
Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases. 61
27340750 2016
34
An unusual case of incomplete Carney triad: an 18-year-old girl suffering from multiple benign tumors. 61
27867588 2016
35
"Wild type" GIST: Clinicopathological features and clinical practice. 61
27427238 2016
36
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 61
26173966 2016
37
Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas. 61
26652933 2016
38
Somatic and germline mutations in NETs: Implications for their diagnosis and management. 61
26971848 2016
39
Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. 61
25808178 2015
40
Succinate dehydrogenase-deficient gastrointestinal stromal tumors. 61
25741136 2015
41
Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications. 61
25622899 2015
42
Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. 61
25423347 2015
43
13 cm GIST in 19-year-old patient, is it the first manifestation of Carney triad? 61
25603338 2015
44
Thymic neuroendocrine tumors (paraganglioma and carcinoid tumors): a comparative immunohistochemical study of 46 cases. 61
25294372 2014
45
Endobronchial chondromas. 61
25233382 2014
46
Recurrent epimutation of SDHC in gastrointestinal stromal tumors. 61
25540324 2014
47
Synchronous adrenocortical neoplasms, paragangliomas, and pheochromocytomas: syndromic considerations regarding an unusual constellation of endocrine tumors. 61
25288237 2014
48
MDCT features of succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumours. 61
25189191 2014
49
A bittersweet symphony. 61
24964863 2014
50
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. 61
24859990 2014

Variations for Carney Triad

ClinVar genetic disease variations for Carney Triad:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHA NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) SNV Likely pathogenic 142601 rs142441643 GRCh37: 5:223624-223624
GRCh38: 5:223509-223509
2 SDHC NM_003001.3(SDHC):c.405+1G>A SNV Likely pathogenic 7244 rs587776653 GRCh37: 1:161326631-161326631
GRCh38: 1:161356841-161356841
3 SDHC NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) SNV Likely pathogenic 189841 rs786205147 GRCh37: 1:161310428-161310428
GRCh38: 1:161340638-161340638
4 SDHC NM_003001.5(SDHC):c.6del (p.Ala3fs) Deletion Likely pathogenic 189840 rs786205146 GRCh37: 1:161284201-161284201
GRCh38: 1:161314411-161314411
5 SDHB NM_003000.3(SDHB):c.380T>G SNV Likely pathogenic 183814 rs786201095 GRCh37: 1:17355138-17355138
GRCh38: 1:17028643-17028643
6 SDHA NM_004168.4(SDHA):c.295C>T (p.His99Tyr) SNV Likely pathogenic 189839 rs786205145 GRCh37: 5:224619-224619
GRCh38: 5:224504-224504

Expression for Carney Triad

Search GEO for disease gene expression data for Carney Triad.

Pathways for Carney Triad

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 SDHD SDHC SDHB SDHA
2
Show member pathways
11.78 SDHD SDHC SDHB SDHA
3
Show member pathways
11.37 SDHD SDHC SDHB SDHA
4 11.28 PDGFRA KIT
5 11.13 PDGFRA KIT
6
Show member pathways
11.08 PDGFRA KIT
7
Show member pathways
10.94 SDHD SDHC SDHB SDHA
8
Show member pathways
10.85 PDGFRA KIT

GO Terms for Carney Triad

Cellular components related to Carney Triad according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 SDHD SDHC SDHB SDHA PDPN
2 mitochondrial inner membrane GO:0005743 9.46 SDHD SDHC SDHB SDHA
3 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.71 SDHD SDHC SDHB SDHA
2 positive regulation of cell migration GO:0030335 9.65 PDPN PDGFRA KIT
3 positive regulation of kinase activity GO:0033674 9.51 PDGFRA KIT
4 hematopoietic progenitor cell differentiation GO:0002244 9.49 PDGFRA KIT
5 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 PDGFRA KIT
6 aerobic respiration GO:0009060 9.43 SDHC SDHB
7 electron transport chain GO:0022900 9.43 SDHC SDHB SDHA
8 respiratory electron transport chain GO:0022904 9.37 SDHB SDHA
9 positive regulation of phospholipase C activity GO:0010863 9.32 PDGFRA KIT
10 succinate metabolic process GO:0006105 9.16 SDHB SDHA
11 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHD SDHC SDHA
12 tricarboxylic acid cycle GO:0006099 8.92 SDHD SDHC SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.37 PDGFRA KIT
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHC SDHA
3 ubiquinone binding GO:0048039 9.26 SDHD SDHB
4 electron transfer activity GO:0009055 9.26 SDHD SDHC SDHB SDHA
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHA
6 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA

Sources for Carney Triad

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....