MCID: CRN055
MIFTS: 45

Carney Triad

Categories: Rare diseases, Gastrointestinal diseases, Endocrine diseases

Aliases & Classifications for Carney Triad

MalaCards integrated aliases for Carney Triad:

Name: Carney Triad 53 49 55 28 51 69
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 53 49

Characteristics:

Orphanet epidemiological data:

55
carney triad
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Carney Triad

NIH Rare Diseases : 49 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 Octrescan® 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. Last updated: 9/17/2008

MalaCards based summary : Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to paragangliomas 1 and pheochromocytoma, and has symptoms including fatigue, headache and abdominal pain. An important gene associated with Carney Triad is PDGFRA (Platelet Derived Growth Factor Receptor Alpha), 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 hematopoietic system and homeostasis/metabolism

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 67)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 31.5 SDHB SDHC SDHD
2 pheochromocytoma 31.1 SDHA SDHB SDHC SDHD
3 chondroma 30.2 SDHB SDHC SDHD
4 paraganglioma and gastric stromal sarcoma 30.0 SDHB SDHC SDHD
5 gastrointestinal stromal tumor 29.9 KIT PDGFRA SDHA SDHB SDHC SDHD
6 paraganglioma 29.6 SDHA SDHB SDHC SDHD
7 neurofibromatosis, type iv, of riccardi 28.5 KIT PDGFRA SDHB SDHC SDHD
8 glomus tumor 10.2 SDHB SDHD
9 multiple endocrine neoplasia, type iia 10.2 SDHB SDHD
10 multiple endocrine neoplasia 10.2 SDHB SDHC
11 renal oncocytoma 10.1 KIT SDHB
12 sarcoma 10.1
13 nonsyndromic paraganglioma 10.1
14 reticular perineurioma 10.1 KIT PDGFRA
15 sm-ahnmd 10.0 KIT PDGFRA
16 mixed type thymoma 10.0 KIT PDPN
17 aggressive digital papillary adenocarcinoma 10.0 KIT PDPN
18 desmoid tumor 10.0 KIT PDGFRA
19 hypereosinophilic syndrome, idiopathic 10.0 KIT PDGFRA
20 sarcomatoid renal cell carcinoma 10.0 KIT PDGFRA
21 conventional fibrosarcoma 10.0 KIT PDGFRA
22 endometrial small cell carcinoma 10.0 KIT PDGFRA
23 pulmonary vein stenosis 10.0 KIT PDGFRA
24 lung adenoid cystic carcinoma 10.0 KIT PDGFRA
25 undifferentiated pleomorphic sarcoma 10.0 KIT PDGFRA
26 heart sarcoma 10.0 KIT PDGFRA
27 chronic eosinophilic leukemia 10.0 KIT PDGFRA
28 mesenchymal cell neoplasm 10.0 KIT PDGFRA
29 adrenal medulla cancer 10.0 SDHB SDHC SDHD
30 extra-adrenal pheochromocytoma 10.0 SDHB SDHC SDHD
31 neurofibromatosis, type i 10.0 KIT PDGFRA
32 sporadic pheochromocytoma 10.0 SDHB SDHC SDHD
33 phaeochromocytoma 10.0 SDHB SDHC SDHD
34 lymphatic system disease 10.0 SDHB SDHC SDHD
35 von hippel-lindau syndrome 10.0 SDHB SDHC SDHD
36 cowden disease 10.0 SDHB SDHC SDHD
37 endocrine gland cancer 10.0 SDHB SDHC SDHD
38 seminal vesicle tumor 10.0 SDHA SDHB
39 fibrosarcoma of bone 10.0 KIT PDGFRA
40 piebald trait 10.0 KIT PDGFRA
41 systemic mastocytosis 10.0 KIT PDGFRA
42 neurilemmoma 9.9 KIT PDGFRA
43 neurofibroma 9.9 KIT PDGFRA
44 mast cell disease 9.9 KIT PDGFRA
45 leukocyte disease 9.9 KIT PDGFRA
46 multiple endocrine neoplasia, type i 9.9 SDHB SDHD
47 quadriplegia 9.9 SDHA SDHD
48 small cell carcinoma 9.9 KIT PDGFRA
49 leiomyosarcoma 9.8 KIT PDGFRA
50 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8

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:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 headache 55 31 occasional (7.5%) Occasional (29-5%) HP:0002315
3 abdominal pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002027
4 diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002014
5 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
6 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
7 ascites 55 31 frequent (33%) Frequent (79-30%) HP:0001541
8 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
9 anorexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002039
10 pheochromocytoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0002666
11 gastrointestinal hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0002239
12 adrenocortical adenoma 55 31 frequent (33%) Frequent (79-30%) HP:0008256
13 mediastinal lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0100721
14 leiomyosarcoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0100243
15 tachycardia 55 31 frequent (33%) Frequent (79-30%) HP:0001649
16 pulmonary infiltrates 55 31 frequent (33%) Frequent (79-30%) HP:0002113
17 gastrointestinal stroma tumor 55 31 hallmark (90%) Very frequent (99-80%) HP:0100723
18 paraganglioma 55 31 frequent (33%) Frequent (79-30%) HP:0002668
19 adrenal overactivity 55 31 frequent (33%) Frequent (79-30%) HP:0002717
20 arrhythmia 55 Occasional (29-5%)
21 lymphadenopathy 55 Occasional (29-5%)

MGI Mouse Phenotypes related to Carney Triad:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 PDPN SDHB SDHC SDHD KIT PDGFRA
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 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 28

Anatomical Context for Carney Triad

MalaCards organs/tissues related to Carney Triad:

38
Lung, Testes, Lymph Node

Publications for Carney Triad

Articles related to Carney Triad:

(show all 44)
# Title Authors Year
1
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
2
Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome. ( 28739378 )
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
13 cm GIST in 19-year-old patient, is it the first manifestation of Carney triad? ( 25603338 )
2015
6
Carney Triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. ( 25808178 )
2015
7
Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. ( 25423347 )
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
Images of a case of Carney triad by combined F-18 FDG PET/CT. ( 21716025 )
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
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. ( 20890271 )
2011
17
Images for diagnosis. An unusual case of Carney triad with high level catecholamine-secreting but no existence of extra-adrenal paraganglioma. ( 20193497 )
2010
18
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. ( 20119652 )
2010
19
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
20
Multicentric paragangliomas associated with Carney triad. ( 20336905 )
2010
21
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. ( 20705254 )
2010
22
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. ( 19935059 )
2010
23
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. ( 19723753 )
2009
24
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
25
Multiple pulmonary chondromas in a young female patient: a component of Carney triad. ( 19461402 )
2009
26
Carney triad in an adult with aggressive behavior: the first case in Korea. ( 19881977 )
2009
27
Incomplete Carney triad--a review of two cases. ( 19561114 )
2009
28
Respiratory symptoms in a boy revealing Carney triad. ( 17039489 )
2008
29
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. ( 18697369 )
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
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
33
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. ( 18043038 )
2007
34
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
35
Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. ( 16638708 )
2006
36
Interventional radiology in Carney triad. ( 15108016 )
2005
37
Carney triad: case report and molecular analysis of gastric tumor. ( 15712189 )
2005
38
Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. ( 15735861 )
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
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. ( 10377927 )
1999
43
The Carney Triad: a lesson in observation, creativity, and perseverance. ( 10377941 )
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
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
2 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
3 SDHC NM_003001.3(SDHC): c.6delT (p.Ala3Argfs) deletion Pathogenic/Likely pathogenic rs786205146 GRCh37 Chromosome 1, 161284201: 161284201
4 SDHC NM_003001.3(SDHC): c.224G> A (p.Gly75Asp) single nucleotide variant Likely pathogenic rs786205147 GRCh37 Chromosome 1, 161310428: 161310428
5 SDHA NM_004168.3(SDHA): c.295C> T (p.His99Tyr) single nucleotide variant Likely pathogenic rs786205145 GRCh38 Chromosome 5, 224504: 224504
6 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631

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 12)
# 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 9.51 KIT PDGFRA
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.49 KIT PDGFRA
5 aerobic respiration GO:0009060 9.48 SDHB SDHC
6 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 KIT PDGFRA
7 respiratory electron transport chain GO:0022904 9.37 SDHA SDHB
8 electron transport chain GO:0022900 9.33 SDHA SDHB SDHC
9 positive regulation of phospholipase C activity GO:0010863 9.32 KIT PDGFRA
10 succinate metabolic process GO:0006105 9.26 SDHA SDHB
11 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHA SDHC SDHD
12 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 electron transfer activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.4 KIT PDGFRA
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.37 KIT PDGFRA
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
5 ubiquinone binding GO:0048039 9.26 SDHB SDHD
6 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
7 succinate dehydrogenase activity GO:0000104 8.8 SDHA SDHC SDHD

Sources for Carney Triad

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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