MCID: CRN055
MIFTS: 39

Carney Triad malady

Categories: Rare diseases, Endocrine diseases, Gastrointestinal diseases

Aliases & Classifications for Carney Triad

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Sources:
26GTR, 30ICD10 via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Carney Triad:

Name: Carney Triad 51 47 53 26 49 67
 
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 47

Characteristics:

Orphanet epidemiological data:

53
carney triad:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

OMIM51 604287
Orphanet53 ORPHA139411
ICD10 via Orphanet30 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 diarrhea, nausea and vomiting and abdominal pain. 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, liver and lymph node, and related mouse phenotypes are cardiovascular system and mortality/aging.

Description from OMIM:51 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 78)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma and gastric stromal sarcoma29.3SDHA, SDHB, SDHC, SDHD
2pheochromocytoma29.0SDHA, SDHB, SDHC, SDHD
3gastrointestinal stromal tumor27.8KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD
4paragangliomas 1, with or without deafness10.9
5retinoschisis autosomal dominant10.4SDHB, SDHD
6ameloblastoma10.4SDHB, SDHD
7pancreatitis, pediatric10.3SDHC, SDHD
8cowden syndrome 210.3SDHA, SDHB
9paragangliomas 510.3SDHA, SDHB
10albinism, oculocutaneous, type iv10.3SDHA, SDHB
11paragangliomas 410.3SDHA, SDHB
12large cell medulloblastoma10.3SDHA, SDHB
13transverse colon cancer10.2PDGFRA, SDHB
14pediatric infratentorial ependymoma10.2SDHB, SDHD
15salpingo-oophoritis10.2SDHA, SDHD
16thyroid crisis10.2SDHA, SDHD
17chondroma10.1
18torticollis, familial10.0SDHB, SDHC, SDHD
19carcinoid tumors, intestinal10.0SDHB, SDHC, SDHD
20seminal vesicle cystadenoma10.0SDHB, SDHC, SDHD
21uterine corpus endometrial carcinoma10.0SDHB, SDHC, SDHD
22sporadic secreting paraganglioma10.0SDHB, SDHC, SDHD
23richter's syndrome10.0SDHB, SDHC, SDHD
24lipoma of the rectum10.0SDHB, SDHC, SDHD
25von hippel-lindau syndrome10.0SDHB, SDHC, SDHD
26sarcoma10.0
27immunodeficiency, common variable, 59.9SDHB, SDHD
28breast papillary carcinoma9.9KIT, PDPN
29mental retardation with spastic paraplegia9.9SDHA, SDHD
30relapsing epidemic typhus9.8KIT, PDGFRA
31frontal sinus squamous cell carcinoma9.8KIT, PDPN
32male reproductive system disease9.8KIT, PDGFRA
33congenital disorder of glycosylation, type iq9.8KIT, PDGFRA
34malignant biphasic mesothelioma9.8KIT, PDGFRA
35filamentary keratitis9.8KIT, PDGFRA
36lateral medullary syndrome9.8KIT, PDGFRA
37prostate small cell carcinoma9.8KIT, PDGFRA
38diffuse cutaneous mastocytosis9.8KIT, PDGFRA
39pura syndrome9.8KIT, PDGFRA
40mastroiacovo de rosa satta syndrome9.8KIT, PDGFRA
41epithelioid leiomyosarcoma9.8KIT, PDGFRA
42pancreatic agenesis9.8KIT, PDGFRA
43t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta9.8KIT, PDGFRA
44malignant fibrous histiocytoma of bone9.8KIT, PDGFRA
45multidrug-resistant tuberculosis9.8KIT, PDGFRA
46neurofibromatosis, type 19.8
47hepatitis9.8
48adrenal cortical adenoma9.8
49leiomyoma9.8
50adenoma9.8

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



Diseases related to carney triad

Symptoms for Carney Triad

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Clinical features from OMIM:

604287

Human phenotypes related to Carney Triad:

 63 53 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea63 53 hallmark (90%) Very frequent (99-80%) HP:0002014
2 nausea and vomiting63 53 hallmark (90%) Very frequent (99-80%) HP:0002017
3 abdominal pain63 53 hallmark (90%) Very frequent (99-80%) HP:0002027
4 gastrointestinal hemorrhage63 53 hallmark (90%) Very frequent (99-80%) HP:0002239
5 neoplasm of the stomach63 hallmark (90%) HP:0006753
6 sarcoma63 hallmark (90%) HP:0100242
7 neoplasm of the lung63 hallmark (90%) HP:0100526
8 neuroendocrine neoplasm63 hallmark (90%) HP:0100634
9 abnormality of the liver63 typical (50%) HP:0001392
10 ascites63 53 typical (50%) Frequent (79-30%) HP:0001541
11 hypercortisolism63 typical (50%) HP:0001578
12 abnormality of the mediastinum63 typical (50%) HP:0045026
13 hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0000822
14 anemia63 53 occasional (7.5%) Occasional (29-5%) HP:0001903
15 anorexia63 53 occasional (7.5%) Occasional (29-5%) HP:0002039
16 migraine63 occasional (7.5%) HP:0002076
17 lymphadenopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0002716
18 arrhythmia63 53 occasional (7.5%) Occasional (29-5%) HP:0011675
19 tachycardia53 Frequent (79-30%)
20 pulmonary infiltrates53 Frequent (79-30%)
21 headache53 Occasional (29-5%)
22 pheochromocytoma53 Very frequent (99-80%)
23 paraganglioma53 Frequent (79-30%)
24 adrenal overactivity53 Frequent (79-30%)
25 adrenocortical adenoma53 Frequent (79-30%)
26 fatigue53 Very frequent (99-80%)
27 leiomyosarcoma53 Very frequent (99-80%)
28 mediastinal lymphadenopathy53 Frequent (79-30%)
29 gastrointestinal stroma tumor53 Very frequent (99-80%)

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 Triad26

Anatomical Context for Carney Triad

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MalaCards organs/tissues related to Carney Triad:

35
Lung, Liver, Lymph node

Animal Models for Carney Triad or affiliated genes

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MGI Mouse Phenotypes related to Carney Triad:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4KIT, PDGFRA, PDPN, SDHB, SDHD
2MP:00107686.7KIT, PDGFRA, PDPN, SDHA, SDHB, SDHC

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 can be (rarely) associated with germline succinate dehydrogenase defects. (26173966)
2015
3
Carney Triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. (25808178)
2015
4
Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. (25423347)
2015
5
13 cm GIST in 19-year-old patient, is it the first manifestation of Carney triad? (25603338)
2015
6
Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. (24859990)
2014
7
Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. (23681078)
2013
8
Carney triad. (23652673)
2013
9
Hepatic paraganglioma and multifocal gastrointestinal stromal tumor in a female: Incomplete Carney triad. (23894692)
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
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
13
Images of a case of Carney triad by combined F-18 FDG PET/CT. (21716025)
2011
14
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. (20890271)
2011
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
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. (20705254)
2010
17
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)
2010
18
Multicentric paragangliomas associated with Carney triad. (20336905)
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
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. (19935059)
2010
21
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)
2009
22
Incomplete Carney triad--a review of two cases. (19561114)
2009
23
Carney triad in an adult with aggressive behavior: the first case in Korea. (19881977)
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
Respiratory symptoms in a boy revealing Carney triad. (17039489)
2008
27
Answer to case of the month # 131. Carney triad. (18533398)
2008
28
A calcified lung tumour and microcytic anaemia in a young woman: partial expression of the Carney triad. (18697369)
2008
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
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)
2007
31
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
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
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
Interventional radiology in Carney triad. (15108016)
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
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
40
A case of the Carney triad. (15251665)
1999
41
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
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)SNVLikely pathogenic, Pathogenicrs142441643GRCh37Chr 5, 223624: 223624
2SDHBNM_003000.2(SDHB): c.380T> G (p.Ile127Ser)SNVLikely pathogenic, 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> ASNVLikely 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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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:004527310.3SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057499.0SDHA, 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:000906010.0SDHB, SDHC
3positive regulation of phospholipase C activityGO:00108639.9KIT, PDGFRA
4respiratory electron transport chainGO:00229049.8SDHA, SDHB
5positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.7KIT, PDGFRA
6regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7KIT, PDGFRA
7positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.4KIT, PDGFRA
8cell chemotaxisGO:00603269.3KIT, PDGFRA
9tricarboxylic acid cycleGO:00060998.1SDHA, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:000817710.1SDHA, SDHB
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.7KIT, PDGFRA
3transmembrane receptor protein tyrosine kinase activityGO:00047149.4KIT, PDGFRA
4ubiquinone bindingGO:00480399.3SDHB, SDHD
5succinate dehydrogenase activityGO:00001049.3SDHA, SDHC, SDHD
6electron carrier activityGO:00090558.9SDHB, SDHC, SDHD

Sources for Carney Triad

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet