MCID: CRN055
MIFTS: 39

Carney Triad malady

Categories: Rare diseases, Endocrine diseases, Gastrointestinal diseases

Aliases & Classifications for Carney Triad

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Sources:
27GTR, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Carney Triad:

Name: Carney Triad 52 48 54 27 50 68
 
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 48

Characteristics:

Orphanet epidemiological data:

54
carney triad:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

OMIM52 604287
Orphanet54 ORPHA139411
ICD10 via Orphanet31 D44.8

Summaries for Carney Triad

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MalaCards based summary: Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to paraganglioma and gastric stromal sarcoma and pheochromocytoma, and has symptoms including Array, Array and Array. An important gene associated with Carney Triad is PDGFRA (Platelet Derived Growth Factor Receptor Alpha), and among its related pathways are Central carbon metabolism in cancer and Gefitinib Pathway, Pharmacokinetics. Affiliated tissues include lymph node and lung, and related mouse phenotypes are neoplasm and mortality/aging.

Description from OMIM:52 604287

Related Diseases for Carney Triad

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma and gastric stromal sarcoma29.9SDHB, SDHC, SDHD
2pheochromocytoma29.2SDHA, SDHB, SDHC, SDHD
3gastrointestinal stromal tumor29.1KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD
4paragangliomas 1, with or without deafness10.9
5catastrophic antiphospholipid syndrome10.2SDHB, SDHD
6paraganglioma10.2
7acrocapitofemoral dysplasia10.2SDHB, SDHD
8bone ameloblastoma10.2SDHB, SDHD
9glomangioma10.2SDHB, SDHD
10central hypoventilation syndrome, congenital10.1SDHB, SDHD
11aneurysm10.1SDHB, SDHC
12invasive mole10.1KIT, PDGFRA
13ganglioneuroma10.1KIT, PDGFRA
14dfnb110.1KIT, PDGFRA
15uremic neuropathy10.1KIT, PDGFRA
16kahrizi syndrome10.1KIT, PDGFRA
17monkeypox10.1KIT, PDPN
18lumbar spinal canal and spinal cord meningioma10.1SDHB, SDHD
19malignant epithelial mesothelioma10.1KIT, PDGFRA
20olfactory nerve disease10.1KIT, PDGFRA
21precursor t-lymphoblastic lymphoma/leukemia10.1KIT, PDPN
22rectum leiomyoma10.1KIT, PDGFRA
23pustulosis palmaris et plantaris10.1KIT, PDGFRA
24intravenous leiomyomatosis10.1SDHB, SDHC, SDHD
25cerebral arterial disease10.1KIT, PDGFRA
26endocervical adenocarcinoma10.1SDHB, SDHC, SDHD
27glioma susceptibility 210.1SDHB, SDHC, SDHD
28fragile x-associated tremor/ataxia syndrome10.0KIT, PDGFRA
29serous surface papilloma10.0SDHB, SDHC, SDHD
30chondroma10.0
31non-syndromic male infertility due to sperm motility disorder10.0SDHB, SDHC, SDHD
32non-syndromic x-linked intellectual disability10.0SDHB, SDHC, SDHD
33childhood teratocarcinoma of the testis10.0SDHB, SDHC, SDHD
34kidney clear cell sarcoma10.0KIT, PDGFRA
35erythrocytosis, familial, 210.0SDHB, SDHC, SDHD
36benign shuddering attacks10.0SDHB, SDHC, SDHD
37hyperandrogenism due to cortisone reductase deficiency10.0KIT, PDGFRA
38fibrosarcoma10.0KIT, PDGFRA
39medullomyoblastoma10.0SDHA, SDHB
40small intestinal sarcoma10.0KIT, PDGFRA
41may-thurner syndrome10.0KIT, PDGFRA
42acute salpingitis10.0SDHA, SDHD
43dentinogenesis imperfecta, shields type ii10.0KIT, PDGFRA
44multifocal osteogenic sarcoma10.0KIT, PDGFRA
45temporomandibular ankylosis10.0KIT, PDGFRA
46prolapse of female genital organ10.0SDHA, SDHD
47sarcoma10.0
48c-p angle neurinoma10.0KIT, PDGFRA
49oral leukoedema9.9KIT, PDGFRA
50acute dacryoadenitis9.9KIT, PDGFRA

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



Diseases related to carney triad

Symptoms & Phenotypes for Carney Triad

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Clinical features from OMIM:

604287

Human phenotypes related to Carney Triad:

 54 64 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension64 54 Occasional (29-5%) HP:0000822
2 ascites64 54 Frequent (79-30%) HP:0001541
3 tachycardia64 54 Frequent (79-30%) HP:0001649
4 anemia64 54 Occasional (29-5%) HP:0001903
5 diarrhea64 54 Very frequent (99-80%) HP:0002014
6 nausea and vomiting64 54 Very frequent (99-80%) HP:0002017
7 abdominal pain64 54 Very frequent (99-80%) HP:0002027
8 anorexia64 54 Occasional (29-5%) HP:0002039
9 pulmonary infiltrates64 54 Frequent (79-30%) HP:0002113
10 gastrointestinal hemorrhage64 54 Very frequent (99-80%) HP:0002239
11 headache64 54 Occasional (29-5%) HP:0002315
12 pheochromocytoma64 54 Very frequent (99-80%) HP:0002666
13 paraganglioma64 54 Frequent (79-30%) HP:0002668
14 lymphadenopathy54 Occasional (29-5%)
15 adrenal overactivity64 54 Frequent (79-30%) HP:0002717
16 adrenocortical adenoma64 54 Frequent (79-30%) HP:0008256
17 arrhythmia54 Occasional (29-5%)
18 fatigue64 54 Very frequent (99-80%) HP:0012378
19 leiomyosarcoma64 54 Very frequent (99-80%) HP:0100243
20 mediastinal lymphadenopathy64 54 Frequent (79-30%) HP:0100721
21 gastrointestinal stroma tumor64 54 Very frequent (99-80%) HP:0100723

MGI Mouse Phenotypes related to Carney Triad according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5KIT, PDGFRA, SDHB, SDHD
2MP:00107687.4KIT, PDGFRA, PDPN, SDHA, SDHB, SDHC

Drugs & Therapeutics for Carney Triad

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Carney Triad

Genetic Tests for Carney Triad

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Genetic tests related to Carney Triad:

id Genetic test Affiliating Genes
1 Carney Triad27

Anatomical Context for Carney Triad

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MalaCards organs/tissues related to Carney Triad:

36
Lymph node, Lung

Publications for Carney Triad

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Articles related to Carney Triad:

(show all 42)
idTitleAuthorsYear
1
An unusual case of incomplete Carney triad: an 18-year-old girl suffering from multiple benign tumors. (27867588)
2016
2
Carney Triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. (25808178)
2015
3
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. (26173966)
2015
4
13 cm GIST in 19-year-old patient, is it the first manifestation of Carney triad? (25603338)
2015
5
Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. (25423347)
2015
6
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. (24859990)
2014
7
Carney triad. (23652673)
2013
8
Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad. (23894692)
2013
9
Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. (23681078)
2013
10
First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge. (22689797)
2012
11
Two out of three required: a case of incomplete Carney triad. (21791484)
2012
12
Images of a case of Carney triad by combined F-18 FDG PET/CT. (21716025)
2011
13
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
14
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. (20890271)
2011
15
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. (19935059)
2010
16
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
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
Multicentric paragangliomas associated with Carney triad. (20336905)
2010
19
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)
2010
20
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. (20705254)
2010
21
Multiple pulmonary chondromas in a young female patient: a component of Carney triad. (19461402)
2009
22
Carney triad in an adult with aggressive behavior: the first case in Korea. (19881977)
2009
23
Incomplete Carney triad--a review of two cases. (19561114)
2009
24
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)
2009
25
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
26
Respiratory symptoms in a boy revealing Carney triad. (17039489)
2008
27
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. (18697369)
2008
28
Answer to case of the month # 131. Carney triad. (18533398)
2008
29
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
30
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
31
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)
2007
32
Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. (16638708)
2006
33
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
34
Interventional radiology in Carney triad. (15108016)
2005
35
Carney triad: case report and molecular analysis of gastric tumor. (15712189)
2005
36
Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. (15735861)
2005
37
Getting the GIST of the Carney Triad: growth factors, rare tumors, and cellular respiration. (15383926)
2004
38
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)
2002
39
A case of the Carney triad. (15251665)
1999
40
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
1999
41
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
42
Neuroectodermal differentiation of the gastrointestinal tumors in the Carney triad. An ultrastructural and immunohistochemical study. (8317611)
1993

Variations for Carney Triad

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Clinvar genetic disease variations for Carney Triad:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SDHANM_ 004168.3(SDHA): c.91C> T (p.Arg31Ter)SNVPathogenic/ Likely pathogenicrs142441643GRCh37Chr 5, 223624: 223624
2SDHBNM_ 003000.2(SDHB): c.380T> G (p.Ile127Ser)SNVPathogenic/ Likely pathogenicrs786201095GRCh37Chr 1, 17355138: 17355138
3SDHANM_ 004168.3(SDHA): c.295C> T (p.His99Tyr)SNVLikely pathogenicrs786205145GRCh38Chr 5, 224504: 224504
4SDHCNM_ 003001.3(SDHC): c.6delT (p.Ala3Argfs)deletionLikely pathogenicrs786205146GRCh37Chr 1, 161284201: 161284201
5SDHCNM_ 003001.3(SDHC): c.224G> A (p.Gly75Asp)SNVLikely pathogenicrs786205147GRCh37Chr 1, 161310428: 161310428
6SDHCNM_ 003001.3(SDHC): c.405+1G> ASNVPathogenic/ Likely pathogenicrs587776653GRCh37Chr 1, 161326631: 161326631

Expression for genes affiliated with Carney Triad

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Search GEO for disease gene expression data for Carney Triad.

Pathways for genes affiliated with Carney Triad

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GO Terms for genes affiliated with Carney Triad

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.8KIT, PDGFRA, PDPN
2respiratory chain complex IIGO:00452739.5SDHB, SDHC
3mitochondrial inner membraneGO:00057438.2SDHA, SDHB, SDHC, SDHD
4mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057498.0SDHA, SDHB, SDHC, SDHD

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell chemotaxisGO:006032610.4KIT, PDGFRA
2positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.2KIT, PDGFRA
3aerobic respirationGO:000906010.2SDHB, SDHC
4positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.2KIT, PDGFRA
5positive regulation of phospholipase C activityGO:001086310.2KIT, PDGFRA
6mitochondrial electron transport, succinate to ubiquinoneGO:00061219.7SDHA, SDHD
7respiratory electron transport chainGO:00229049.6SDHA, SDHB
8succinate metabolic processGO:00061059.5SDHA, SDHB
9oxidation-reduction processGO:00551148.6SDHA, SDHB, SDHC, SDHD
10tricarboxylic acid cycleGO:00060998.1SDHA, SDHB, SDHC, SDHD

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.2KIT, PDGFRA
2transmembrane receptor protein tyrosine kinase activityGO:00047149.8KIT, PDGFRA
3oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.7SDHA, SDHC
4ubiquinone bindingGO:00480399.3SDHB, SDHD
5succinate dehydrogenase activityGO:00001049.0SDHA, SDHC, SDHD
6succinate dehydrogenase (ubiquinone) activityGO:00081779.0SDHA, SDHB, SDHD
7electron carrier activityGO:00090558.6SDHA, SDHB, SDHC, SDHD

Sources for Carney Triad

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet