MCID: CRN055
MIFTS: 45

Carney Triad

Categories: Rare diseases, Endocrine diseases, Gastrointestinal diseases

Aliases & Classifications for Carney Triad

MalaCards integrated aliases for Carney Triad:

Name: Carney Triad 57 53 59 29 55 6 73
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 57 53

Characteristics:

Orphanet epidemiological data:

59
carney triad
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Carney Triad

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139411Disease definitionCarney's triad is 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.EpidemiologyLess than 100 cases have been reported worldwide. Carney's triad primarily affects young women (mean age of onset 20 years).Clinical descriptionMost 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.EtiologyThe 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 methodsGastroscopy, 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 OctrescanĀ® may help to detect paragangliomas.Differential diagnosisThe differential diagnosis should include Carney-Stratakis dyad.Management and treatmentThe 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to paragangliomas 1 and pheochromocytoma. An important gene associated with Carney Triad is SDHC (Succinate Dehydrogenase Complex Subunit C), and among its related pathways/superpathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Affiliated tissues include lung, testes and lymph node, and related phenotypes are hypertension and ascites

Wikipedia : 76 Carney triad (CT) is characterized by the coexistence of three types of neoplasms, mainly in young... more...

Description 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 66)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 31.4 SDHB SDHC SDHD
2 pheochromocytoma 31.0 SDHA SDHB SDHC SDHD
3 hereditary paraganglioma-pheochromocytoma syndromes 30.6 SDHA SDHB SDHC SDHD
4 chondroma 30.1 SDHB SDHC SDHD
5 paraganglioma and gastric stromal sarcoma 29.8 SDHB SDHC SDHD
6 paraganglioma 29.5 SDHA SDHB SDHC SDHD
7 neurofibromatosis, type i 29.2 KIT PDGFRA
8 gastrointestinal stromal tumor 28.6 KIT PDGFRA SDHA SDHB SDHC SDHD
9 neurofibromatosis, type iv, of riccardi 27.1 KIT PDGFRA SDHB SDHC SDHD
10 seminal vesicle tumor 10.4 SDHA SDHB
11 multiple endocrine neoplasia 10.3 SDHB SDHC
12 glomus tumor 10.3 SDHB SDHD
13 multiple endocrine neoplasia, type iia 10.2 SDHB SDHD
14 sarcoma 10.1
15 nonsyndromic paraganglioma 10.1
16 adrenal medulla cancer 9.9 SDHB SDHC SDHD
17 extra-adrenal pheochromocytoma 9.9 SDHB SDHC SDHD
18 sporadic pheochromocytoma 9.9 SDHB SDHC SDHD
19 phaeochromocytoma 9.9 SDHB SDHC SDHD
20 lymphatic system disease 9.9 SDHB SDHC SDHD
21 von hippel-lindau syndrome 9.9 SDHB SDHC SDHD
22 cowden disease 9.9 SDHB SDHC SDHD
23 endocrine gland cancer 9.9 SDHB SDHC SDHD
24 renal oncocytoma 9.9 KIT SDHB
25 mixed type thymoma 9.8 KIT PDPN
26 hepatitis 9.8
27 adrenal cortical adenoma 9.8
28 leiomyoma 9.8
29 adrenal gland hyperfunction 9.8
30 adenoma 9.8
31 harlequin syndrome 9.8
32 aggressive digital papillary adenocarcinoma 9.8 KIT PDPN
33 reticular perineurioma 9.7 KIT PDGFRA
34 sm-ahnmd 9.7 KIT PDGFRA
35 desmoid tumor 9.7 KIT PDGFRA
36 sarcomatoid renal cell carcinoma 9.7 KIT PDGFRA
37 conventional fibrosarcoma 9.7 KIT PDGFRA
38 endometrial small cell carcinoma 9.7 KIT PDGFRA
39 pulmonary vein stenosis 9.7 KIT PDGFRA
40 hypereosinophilic syndrome, idiopathic 9.7 KIT PDGFRA
41 undifferentiated pleomorphic sarcoma 9.7 KIT PDGFRA
42 lung adenoid cystic carcinoma 9.7 KIT PDGFRA
43 heart sarcoma 9.7 KIT PDGFRA
44 chronic eosinophilic leukemia 9.7 KIT PDGFRA
45 mesenchymal cell neoplasm 9.6 KIT PDGFRA
46 fibrosarcoma of bone 9.6 KIT PDGFRA
47 piebald trait 9.6 KIT PDGFRA
48 systemic mastocytosis 9.6 KIT PDGFRA
49 neurilemmoma 9.6 KIT PDGFRA
50 neurofibroma 9.6 KIT PDGFRA

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



Diseases related to Carney Triad

Symptoms & Phenotypes for Carney Triad

Clinical features from OMIM:

604287

Human phenotypes related to Carney Triad:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 ascites 59 32 frequent (33%) Frequent (79-30%) HP:0001541
3 tachycardia 59 32 frequent (33%) Frequent (79-30%) HP:0001649
4 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
5 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
6 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
7 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
8 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
9 pulmonary infiltrates 59 32 frequent (33%) Frequent (79-30%) HP:0002113
10 gastrointestinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002239
11 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
12 pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002666
13 paraganglioma 59 32 frequent (33%) Frequent (79-30%) HP:0002668
14 adrenal overactivity 59 32 frequent (33%) Frequent (79-30%) HP:0002717
15 adrenocortical adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0008256
16 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
17 leiomyosarcoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100243
18 mediastinal lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0100721
19 gastrointestinal stroma tumor 59 32 hallmark (90%) Very frequent (99-80%) HP:0100723
20 lymphadenopathy 59 Occasional (29-5%)
21 arrhythmia 59 Occasional (29-5%)

GenomeRNAi Phenotypes related to Carney Triad according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.44 PDGFRA
2 Decreased viability GR00221-A-1 9.44 SDHD KIT PDGFRA
3 Decreased viability GR00221-A-2 9.44 SDHD
4 Decreased viability GR00221-A-3 9.44 PDGFRA
5 Decreased viability GR00221-A-4 9.44 SDHD PDGFRA
6 Decreased viability GR00301-A 9.44 KIT
7 Decreased viability GR00381-A-1 9.44 SDHD
8 Decreased viability GR00402-S-2 9.44 KIT PDGFRA SDHD

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 cardiovascular system MP:0005385 9.72 KIT PDGFRA PDPN SDHB SDHD
3 homeostasis/metabolism MP:0005376 9.7 KIT PDGFRA PDPN SDHA SDHB SDHC
4 mortality/aging MP:0010768 9.5 SDHA SDHB SDHC SDHD KIT PDGFRA
5 neoplasm MP:0002006 8.92 KIT PDGFRA SDHB SDHD

Drugs & Therapeutics for Carney Triad

Search Clinical Trials , NIH Clinical Center for Carney Triad

Genetic Tests for Carney Triad

Genetic tests related to Carney Triad:

# Genetic test Affiliating Genes
1 Carney Triad 29

Anatomical Context for Carney Triad

MalaCards organs/tissues related to Carney Triad:

41
Lung, Testes, Lymph Node

Publications for Carney Triad

Articles related to Carney Triad:

(show all 44)
# Title Authors Year
1
Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome. ( 28739378 )
2017
2
68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Extra-adrenal Paraganglioma in a Case of Complete Carney Triad. ( 29076898 )
2017
3
An unusual case of incomplete Carney triad: an 18-year-old girl suffering from multiple benign tumors. ( 27867588 )
2016
4
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. ( 26173966 )
2015
5
Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. ( 25423347 )
2015
6
Carney Triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. ( 25808178 )
2015
7
13 cm GIST in 19-year-old patient, is it the first manifestation of Carney triad? ( 25603338 )
2015
8
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. ( 24859990 )
2014
9
Carney triad. ( 23652673 )
2013
10
Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. ( 23681078 )
2013
11
Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad. ( 23894692 )
2013
12
Two out of three required: a case of incomplete Carney triad. ( 21791484 )
2012
13
First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge. ( 22689797 )
2012
14
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. ( 20890271 )
2011
15
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
16
Images of a case of Carney triad by combined F-18 FDG PET/CT. ( 21716025 )
2011
17
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. ( 20705254 )
2010
18
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
19
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. ( 19935059 )
2010
20
Images for diagnosis. An unusual case of Carney triad with high level catecholamine-secreting but no existence of extra-adrenal paraganglioma. ( 20193497 )
2010
21
Multicentric paragangliomas associated with Carney triad. ( 20336905 )
2010
22
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. ( 20119652 )
2010
23
Incomplete Carney triad--a review of two cases. ( 19561114 )
2009
24
Carney triad in an adult with aggressive behavior: the first case in Korea. ( 19881977 )
2009
25
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. ( 19723753 )
2009
26
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
27
Multiple pulmonary chondromas in a young female patient: a component of Carney triad. ( 19461402 )
2009
28
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. ( 18697369 )
2008
29
Respiratory symptoms in a boy revealing Carney triad. ( 17039489 )
2008
30
Answer to case of the month # 131. Carney triad. ( 18533398 )
2008
31
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
32
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. ( 18043038 )
2007
33
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
34
Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. ( 16638708 )
2006
35
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
36
Interventional radiology in Carney triad. ( 15108016 )
2005
37
Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. ( 15735861 )
2005
38
Carney triad: case report and molecular analysis of gastric tumor. ( 15712189 )
2005
39
Getting the GIST of the Carney Triad: growth factors, rare tumors, and cellular respiration. ( 15383926 )
2004
40
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. ( 11857563 )
2002
41
A case of the Carney triad. ( 15251665 )
1999
42
The Carney Triad: a lesson in observation, creativity, and perseverance. ( 10377941 )
1999
43
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. ( 10377927 )
1999
44
Neuroectodermal differentiation of the gastrointestinal tumors in the Carney triad. An ultrastructural and immunohistochemical study. ( 8317611 )
1993

Variations for Carney Triad

ClinVar genetic disease variations for Carney Triad:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
2 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh38 Chromosome 1, 161356841: 161356841
3 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
4 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh38 Chromosome 5, 223509: 223509
5 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
6 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic rs786201095 GRCh38 Chromosome 1, 17028643: 17028643
7 SDHC NM_003001.3(SDHC): c.6delT (p.Ala3Argfs) deletion Pathogenic rs786205146 GRCh37 Chromosome 1, 161284201: 161284201
8 SDHC NM_003001.3(SDHC): c.6delT (p.Ala3Argfs) deletion Pathogenic rs786205146 GRCh38 Chromosome 1, 161314411: 161314411
9 SDHC NM_003001.3(SDHC): c.224G> A (p.Gly75Asp) single nucleotide variant Likely pathogenic rs786205147 GRCh37 Chromosome 1, 161310428: 161310428
10 SDHC NM_003001.3(SDHC): c.224G> A (p.Gly75Asp) single nucleotide variant Likely pathogenic rs786205147 GRCh38 Chromosome 1, 161340638: 161340638
11 SDHA NM_004168.3(SDHA): c.295C> T (p.His99Tyr) single nucleotide variant Likely pathogenic rs786205145 GRCh38 Chromosome 5, 224504: 224504
12 SDHA NM_004168.3(SDHA): c.295C> T (p.His99Tyr) single nucleotide variant Likely pathogenic rs786205145 GRCh37 Chromosome 5, 224619: 224619

Expression for Carney Triad

Search GEO for disease gene expression data for Carney Triad.

Pathways for Carney Triad

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 mitochondrial inner membrane GO:0005743 9.46 SDHA SDHB SDHC SDHD
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 SDHA SDHB SDHC SDHD
2 positive regulation of cell migration GO:0030335 9.58 KIT PDGFRA PDPN
3 cell chemotaxis GO:0060326 9.52 KIT PDGFRA
4 positive regulation of kinase activity GO:0033674 9.51 KIT PDGFRA
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.49 KIT PDGFRA
6 aerobic respiration GO:0009060 9.48 SDHB SDHC
7 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 KIT PDGFRA
8 respiratory electron transport chain GO:0022904 9.37 SDHA SDHB
9 electron transport chain GO:0022900 9.33 SDHA SDHB SDHC
10 succinate metabolic process GO:0006105 9.32 SDHA SDHB
11 positive regulation of phospholipase C activity GO:0010863 9.26 KIT PDGFRA
12 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHA SDHC SDHD
13 tricarboxylic acid cycle GO:0006099 8.92 SDHA SDHB SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 MAP kinase kinase kinase activity GO:0004709 9.48 KIT PDGFRA
2 mitogen-activated protein kinase kinase binding GO:0031434 9.46 KIT PDGFRA
3 electron transfer activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 KIT PDGFRA
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.4 KIT PDGFRA
6 growth factor binding GO:0019838 9.37 KIT PDGFRA
7 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
8 ubiquinone binding GO:0048039 9.26 SDHB SDHD
9 succinate dehydrogenase activity GO:0000104 9.13 SDHA SDHC SDHD
10 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD

Sources for Carney Triad

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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