MCID: CRN055
MIFTS: 34

Carney Triad malady

Rare diseases, Endocrine diseases, Cancer diseases, Gastrointestinal diseases categories

Aliases & Classifications for Carney Triad

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

Aliases & Descriptions for Carney Triad:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 139411
ICD10 via Orphanet28 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 paragangliomas 1, with or without deafness and paraganglioma and gastric stromal sarcoma, and has symptoms including diarrhea, nausea and vomiting and abdominal pain. An important gene associated with Carney Triad is SDHC (Succinate Dehydrogenase Complex, Subunit C, Integral Membrane Protein, 15kDa), and among its related pathways are Cardiac Progenitor Differentiation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include lung, liver and lymph node.

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 84)
idRelated DiseaseScoreTop Affiliating Genes
1paragangliomas 1, with or without deafness30.3SDHB, SDHC, SDHD
2paraganglioma and gastric stromal sarcoma30.2SDHA, SDHB, SDHC, SDHD
3pheochromocytoma30.0SDHA, SDHB, SDHC, SDHD
4gastrointestinal stromal tumor29.7KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD
5paraganglioma10.6
6chondroma10.5
7sarcoma10.4
8heart conduction disease10.2SDHB, SDHC
9cataract hutterite type10.2SDHB, SDHD
10anus leiomyoma10.2SDHB, SDHD
11neurofibromatosis, type 110.2
12hepatitis10.2
13neurofibromatosis10.2
14adrenal cortical adenoma10.2
15adenoma10.2
16leiomyoma10.2
17harlequin syndrome10.2
18cowden syndrome 210.2SDHA, SDHB
19cardiomyopathy, dilated, 1gg10.2SDHA, SDHB
20paragangliomas 510.2SDHA, SDHB
21paragangliomas 410.1SDHA, SDHB
22glossitis10.1SDHB, SDHD
23myopathy with deficiency of iron-sulfur cluster assembly enzyme10.1SDHB, SDHC
24seminoma10.1SDHA, SDHB
25renal tubular acidosis10.1KIT, SDHB
26scrotum basal cell carcinoma10.0KIT, PDPN
27familial streblodactyly10.0SDHB, SDHC, SDHD
28cervical neuroblastoma10.0SDHB, SDHC, SDHD
29chondromalacia10.0SDHB, SDHC, SDHD
30synostosis - microcephaly - scoliosis10.0SDHB, SDHC, SDHD
31progressive relapsing multiple sclerosis10.0SDHB, SDHC, SDHD
32lymphadenitis10.0SDHB, SDHC, SDHD
33multiple endocrine neoplasia iia10.0SDHB, SDHC, SDHD
34von hippel-lindau syndrome10.0SDHB, SDHC, SDHD
35deep leiomyoma10.0SDHB, SDHC, SDHD
36glomerulosclerosis10.0KIT, PDPN
37multiple endocrine neoplasia 110.0SDHB, SDHD
38extraneural perineurioma10.0KIT, PDGFRA
39rothmund-thomson syndrome type 210.0SDHA, SDHB, SDHD
40medulloepithelioma10.0KIT, PDGFRA
41hypereosinophilic syndrome, idiopathic, resistant to imatinib10.0KIT, PDGFRA
42urinary bladder small cell neuroendocrine carcinoma10.0KIT, PDGFRA
43partial sensory epilepsy10.0KIT, PDGFRA
44cutaneous t cell lymphoma10.0KIT, PDGFRA
45pulmonary venous return anomaly10.0KIT, PDGFRA
46cryptococcosis10.0KIT, PDGFRA
47heart septal defect10.0KIT, PDGFRA
48desmoplastic infantile astrocytoma10.0KIT, PDGFRA
49periosteal osteogenic sarcoma10.0KIT, PDGFRA
50mesenchymal chondrosarcoma10.0KIT, 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 diarrhea hallmark (90%) HP:0002014
2 nausea and vomiting hallmark (90%) HP:0002017
3 abdominal pain hallmark (90%) HP:0002027
4 gastrointestinal hemorrhage hallmark (90%) HP:0002239
5 neoplasm of the stomach hallmark (90%) HP:0006753
6 sarcoma hallmark (90%) HP:0100242
7 neoplasm of the lung hallmark (90%) HP:0100526
8 neuroendocrine neoplasm hallmark (90%) HP:0100634
9 abnormality of the liver typical (50%) HP:0001392
10 ascites typical (50%) HP:0001541
11 hypercortisolism typical (50%) HP:0001578
12 abnormality of the mediastinum typical (50%) HP:0045026
13 hypertension occasional (7.5%) HP:0000822
14 anemia occasional (7.5%) HP:0001903
15 anorexia occasional (7.5%) HP:0002039
16 migraine occasional (7.5%) HP:0002076
17 lymphadenopathy occasional (7.5%) HP:0002716
18 arrhythmia occasional (7.5%) HP:0011675

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, Liver, Lymph node

Animal Models for Carney Triad or affiliated genes

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Publications for Carney Triad

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Articles related to Carney Triad:

(show all 40)
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
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)
2010
19
Incomplete Carney triad--a review of two cases. (19561114)
2009
20
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)
2009
21
Carney triad in an adult with aggressive behavior: the first case in Korea. (19881977)
2009
22
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
23
Multiple pulmonary chondromas in a young female patient: a component of Carney triad. (19461402)
2009
24
Respiratory symptoms in a boy revealing Carney triad. (17039489)
2008
25
Answer to case of the month # 131. Carney triad. (18533398)
2008
26
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. (18697369)
2008
27
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)
2007
28
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
29
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
30
Use of 2-tracer PET to diagnose gastrointestinal stromal tumour and pheochromocytoma in patients with Carney triad and neurofibromatosis type 1. (16638708)
2006
31
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
32
Interventional radiology in Carney triad. (15108016)
2005
33
Dual CD117 expression in gastrointestinal stromal tumor (GIST) and paraganglioma of Carney triad: a case report. (15735861)
2005
34
Carney triad: case report and molecular analysis of gastric tumor. (15712189)
2005
35
Getting the GIST of the Carney Triad: growth factors, rare tumors, and cellular respiration. (15383926)
2004
36
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. (11857563)
2002
37
A case of the Carney triad. (15251665)
1999
38
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
1999
39
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
40
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
3SDHANM_004168.3(SDHA): c.295C> T (p.His99Tyr)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenicrs786205147GRCh37Chr 1, 161310428: 161310428
6SDHCNM_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 pathways (with members indented)ScoreTop Affiliating Genes
19.3KIT, PDGFRA
2
Show member pathways
8.4SDHA, SDHB, SDHC, SDHD
3
Show member pathways
8.4SDHA, SDHB, SDHC, SDHD
4
Show member pathways
8.4SDHA, SDHB, SDHC, SDHD
5
Show member pathways
8.4SDHA, SDHB, SDHC, SDHD
6
Show member pathways
8.4SDHA, SDHB, SDHC, SDHD

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
1respiratory chain complex IIGO:004527310.2SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057498.9SDHA, SDHB, SDHC, SDHD
3mitochondrial inner membraneGO:00057438.4SDHA, SDHB, SDHC, SDHD

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:000610510.1SDHA, SDHB
2aerobic respirationGO:00090609.9SDHB, SDHC
3positive regulation of phospholipase C activityGO:00108639.8KIT, PDGFRA
4positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.7KIT, PDGFRA
5positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.5KIT, PDGFRA
6cell chemotaxisGO:00603269.3KIT, PDGFRA
7tricarboxylic acid cycleGO:00060998.9SDHA, SDHB, SDHC, SDHD
8respiratory electron transport chainGO:00229048.3SDHA, SDHB, SDHC, SDHD
9cellular metabolic processGO:00442378.1SDHA, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.9SDHA, SDHC
2succinate dehydrogenase (ubiquinone) activityGO:00081779.6SDHA, SDHB, SDHC
3ubiquinone bindingGO:00480399.6SDHB, SDHD
4transmembrane receptor protein tyrosine kinase activityGO:00047149.3KIT, PDGFRA
5succinate dehydrogenase activityGO:00001049.2SDHA, SDHC, SDHD
6electron carrier activityGO:00090558.9SDHB, SDHC, SDHD

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