MCID: CRN055
MIFTS: 40

Carney Triad malady

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

Aliases & Classifications for Carney Triad

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Carney Triad:

Name: Carney Triad 45 47 51 65
 
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 45

Characteristics:

Orphanet epidemiological data:

51
carney triad:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

Orphanet51 139411
ICD10 via Orphanet28 D44.8
UMLS65 C1858592

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 neuroendocrine neoplasm, neoplasm of the lung and sarcoma. An important gene associated with Carney Triad is SDHC (Succinate Dehydrogenase Complex Subunit C), and among its related pathways are Cardiac Progenitor Differentiation and Central carbon metabolism in cancer. Affiliated tissues include lung, prostate and thyroid, and related mouse phenotypes are cardiovascular system and mortality/aging.

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 88)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma and gastric stromal sarcoma29.5SDHA, SDHB, SDHC, SDHD
2pheochromocytoma29.2SDHA, SDHB, SDHC, SDHD
3gastrointestinal stromal tumor27.9KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD
4cowden syndrome 210.4SDHA, SDHB
5paragangliomas 510.4SDHA, SDHB
6albinism, oculocutaneous, type iv10.4SDHA, SDHB
7paragangliomas 410.4SDHA, SDHB
8male reproductive organ cancer10.4SDHA, SDHB
9cataract hutterite type10.4SDHB, SDHD
10gallbladder adenoma10.4SDHB, SDHD
11cataract 4, multiple types10.4SDHB, SDHD
12epidermal appendage tumor10.3SDHB, SDHD
13paraganglioma10.3
14renal tubular acidosis10.3KIT, SDHB
15multiple endocrine neoplasia iib10.3SDHB, SDHD
16myopathy with deficiency of iron-sulfur cluster assembly enzyme10.3SDHC, SDHD
17acute salpingo-oophoritis10.3SDHA, SDHD
18senile entropion10.3SDHA, SDHD
19peptic ulcer disease10.3SDHB, SDHD
20chondroma10.2
21eccrine papillary adenocarcinoma10.1KIT, PDPN
22dermis tumor10.1KIT, PDPN
23sarcoma10.1
24alcoholic cardiomyopathy10.1SDHA, SDHD
25geroderma osteodysplastica10.1KIT, PDPN
26paragangliomas 1, with or without deafness10.1
27familial stomach cancer10.0SDHB, SDHC, SDHD
28mononeuritis of upper limb and mononeuritis multiplex10.0SDHB, SDHC, SDHD
29retroperitoneal neuroblastoma10.0SDHB, SDHC, SDHD
30carcinoid tumors, intestinal10.0SDHB, SDHC, SDHD
31sporadic pheochromocytoma/secreting paraganglioma10.0SDHB, SDHC, SDHD
32neurofibromatosis, familial spinal10.0SDHB, SDHC, SDHD
33von hippel-lindau syndrome10.0SDHB, SDHC, SDHD
34cerebellar liponeurocytoma10.0SDHB, SDHC, SDHD
35steroid inherited metabolic disorder10.0SDHB, SDHC, SDHD
36spastic ataxia 110.0SDHB, SDHC, SDHD
37extraneural perineurioma10.0KIT, PDGFRA
38aggressive systemic mastocytosis10.0KIT, PDGFRA
39multiple chemical sensitivity10.0KIT, PDGFRA
40rhinitis10.0KIT, PDGFRA
41bartholin's gland small cell carcinoma10.0KIT, PDGFRA
42mast cell neoplasm10.0KIT, PDGFRA
43pediatric fibrosarcoma9.9KIT, PDGFRA
44ovary leiomyosarcoma9.9KIT, PDGFRA
45caroli disease9.9KIT, PDGFRA
46comedo carcinoma9.9KIT, PDGFRA
47osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome9.9KIT, PDGFRA
48bone angioendothelial sarcoma9.9KIT, PDGFRA
49mastocytosis cutaneous with short stature conductive hearing loss and microtia9.9KIT, PDGFRA
50small cell neuroendocrine carcinoma9.9KIT, PDGFRA

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



Diseases related to carney triad

Symptoms for Carney Triad

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Symptoms:

 51 (show all 21)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • 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
  • ascitis
  • hepatitis/icterus/cholestasis
  • 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

HPO human phenotypes related to Carney Triad:

(show all 18)
id Description Frequency HPO Source Accession
1 neuroendocrine neoplasm hallmark (90%) HP:0100634
2 neoplasm of the lung hallmark (90%) HP:0100526
3 sarcoma hallmark (90%) HP:0100242
4 neoplasm of the stomach hallmark (90%) HP:0006753
5 gastrointestinal hemorrhage hallmark (90%) HP:0002239
6 abdominal pain hallmark (90%) HP:0002027
7 nausea and vomiting hallmark (90%) HP:0002017
8 diarrhea hallmark (90%) HP:0002014
9 abnormality of the mediastinum typical (50%) HP:0045026
10 hypercortisolism typical (50%) HP:0001578
11 ascites typical (50%) HP:0001541
12 abnormality of the liver typical (50%) HP:0001392
13 arrhythmia occasional (7.5%) HP:0011675
14 lymphadenopathy occasional (7.5%) HP:0002716
15 migraine occasional (7.5%) HP:0002076
16 anorexia occasional (7.5%) HP:0002039
17 anemia occasional (7.5%) HP:0001903
18 hypertension occasional (7.5%) HP:0000822

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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Anatomical Context for Carney Triad

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MalaCards organs/tissues related to Carney Triad:

33
Lung, Prostate, Thyroid, Liver, Bone, Neutrophil, Tongue

Animal Models for Carney Triad or affiliated genes

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MGI Mouse Phenotypes related to Carney Triad:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6KIT, PDGFRA, PDPN, SDHB, SDHD
2MP:00107686.4KIT, PDGFRA, PDPN, SDHA, SDHB, SDHC

Publications for Carney Triad

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Articles related to Carney Triad:

(show all 41)
idTitleAuthorsYear
1
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. (26173966)
2015
2
Carney Triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. (25808178)
2015
3
Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. (25423347)
2015
4
13 cm GIST in 19-year-old patient, is it the first manifestation of Carney triad? (25603338)
2015
5
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. (24859990)
2014
6
Carney triad. (23652673)
2013
7
Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. (23681078)
2013
8
Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad. (23894692)
2013
9
First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge. (22689797)
2012
10
Two out of three required: a case of incomplete Carney triad. (21791484)
2012
11
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
12
Images of a case of Carney triad by combined F-18 FDG PET/CT. (21716025)
2011
13
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. (20890271)
2011
14
Multicentric paragangliomas associated with Carney triad. (20336905)
2010
15
Images for diagnosis. An unusual case of Carney triad with high level catecholamine-secreting but no existence of extra-adrenal paraganglioma. (20193497)
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
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. (20705254)
2010
18
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. (19935059)
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
Incomplete Carney triad--a review of two cases. (19561114)
2009
21
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)
2009
22
Carney triad in an adult with aggressive behavior: the first case in Korea. (19881977)
2009
23
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
24
Multiple pulmonary chondromas in a young female patient: a component of Carney triad. (19461402)
2009
25
Respiratory symptoms in a boy revealing Carney triad. (17039489)
2008
26
Answer to case of the month # 131. Carney triad. (18533398)
2008
27
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. (18697369)
2008
28
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)
2007
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
Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. (16638708)
2006
32
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
33
Interventional radiology in Carney triad. (15108016)
2005
34
Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. (15735861)
2005
35
Carney triad: case report and molecular analysis of gastric tumor. (15712189)
2005
36
Getting the GIST of the Carney Triad: growth factors, rare tumors, and cellular respiration. (15383926)
2004
37
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)
2002
38
A case of the Carney triad. (15251665)
1999
39
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
1999
40
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
41
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)single nucleotide variantLikely pathogenic, Pathogenicrs142441643GRCh38Chr 5, 223509: 223509
2SDHBNM_003000.2(SDHB): c.380T> G (p.Ile127Ser)single nucleotide variantLikely pathogenic, Pathogenicrs786201095GRCh37Chr 1, 17355138: 17355138
3SDHCNM_003001.3(SDHC): c.405+1G> Asingle nucleotide variantLikely pathogenic, 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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Pathways related to Carney Triad according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0KIT, PDGFRA
29.0KIT, PDGFRA
3
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD
4
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD
5
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD
6
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD
7
Show member pathways
8.7SDHA, SDHB, SDHC, SDHD

GO Terms for genes affiliated with Carney Triad

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:000610510.1SDHA, SDHB
2positive regulation of phospholipase C activityGO:00108639.4KIT, PDGFRA
3phosphatidylinositol-mediated signalingGO:00480159.3KIT, PDGFRA
4transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.2KIT, PDGFRA
5positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.1KIT, PDGFRA
6cell chemotaxisGO:00603269.0KIT, PDGFRA
7positive regulation of phosphatidylinositol 3-kinase activityGO:00435528.9KIT, PDGFRA

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00081779.8SDHA, SDHB
2electron carrier activityGO:00090559.5SDHB, SDHD
3oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.3SDHA, SDHC

Sources for Carney Triad

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet