MCID: CRN055
MIFTS: 40

Carney Triad malady

Categories: Rare diseases, Endocrine diseases, Gastrointestinal diseases

Aliases & Classifications for Carney Triad

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Carney Triad:

Name: Carney Triad 50 46 52 25 48 66
 
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 46

Characteristics:

Orphanet epidemiological data:

52
carney triad:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

Classifications:



External Ids:

OMIM50 604287
Orphanet52 ORPHA139411
ICD10 via Orphanet29 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 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), 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:50 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 81)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma30.6SDHB, SDHC, SDHD
2paraganglioma and gastric stromal sarcoma29.4SDHA, SDHB, SDHC, SDHD
3pheochromocytoma29.1SDHA, SDHB, SDHC, SDHD
4gastrointestinal stromal tumor27.8KIT, PDGFRA, SDHA, SDHB, SDHC, SDHD
5pancreatitis, pediatric10.4SDHC, SDHD
6retinoschisis autosomal dominant10.4SDHB, SDHD
7ameloblastoma10.4SDHB, SDHD
8cowden syndrome 210.4SDHA, SDHB
9paragangliomas 510.4SDHA, SDHB
10albinism, oculocutaneous, type iv10.3SDHA, SDHB
11paragangliomas 410.3SDHA, SDHB
12large cell medulloblastoma10.3SDHA, SDHB
13salpingo-oophoritis10.2SDHA, SDHD
14pediatric infratentorial ependymoma10.2SDHB, SDHD
15thyroid crisis10.2SDHA, SDHD
16chondroma10.2
17sarcoma10.1
18breast papillary carcinoma10.1KIT, PDPN
19torticollis, familial10.1SDHB, SDHC, SDHD
20carcinoid tumors, intestinal10.1SDHB, SDHC, SDHD
21seminal vesicle cystadenoma10.1SDHB, SDHC, SDHD
22uterine corpus endometrial carcinoma10.1SDHB, SDHC, SDHD
23sporadic secreting paraganglioma10.1SDHB, SDHC, SDHD
24richter's syndrome10.1SDHB, SDHC, SDHD
25lipoma of the rectum10.1SDHB, SDHC, SDHD
26von hippel-lindau syndrome10.1SDHB, SDHC, SDHD
27paragangliomas 1, with or without deafness10.0
28transverse colon cancer10.0PDGFRA, SDHB
29frontal sinus squamous cell carcinoma10.0KIT, PDPN
30relapsing epidemic typhus9.9KIT, PDGFRA
31male reproductive system disease9.9KIT, PDGFRA
32congenital disorder of glycosylation, type iq9.9KIT, PDGFRA
33malignant biphasic mesothelioma9.9KIT, PDGFRA
34filamentary keratitis9.9KIT, PDGFRA
35lateral medullary syndrome9.9KIT, PDGFRA
36in situ carcinoma9.9KIT, SDHB, SDHD
37prostate small cell carcinoma9.9KIT, PDGFRA
38diffuse cutaneous mastocytosis9.9KIT, PDGFRA
39pura syndrome9.9KIT, PDGFRA
40mastroiacovo de rosa satta syndrome9.9KIT, PDGFRA
41immunodeficiency, common variable, 59.9SDHB, SDHD
42epithelioid leiomyosarcoma9.9KIT, PDGFRA
43pancreatic agenesis9.9KIT, PDGFRA
44mental retardation with spastic paraplegia9.9SDHA, SDHD
45t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta9.9KIT, PDGFRA
46neurofibromatosis, type 19.9
47hepatitis9.9
48adrenal cortical adenoma9.9
49leiomyoma9.9
50adenoma9.9

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

Symptoms:

 52 (show all 21)
  • hypertension
  • ascites
  • tachycardia
  • anemia
  • diarrhea
  • nausea and vomiting
  • abdominal pain
  • anorexia
  • pulmonary infiltrates
  • gastrointestinal hemorrhage
  • headache
  • pheochromocytoma
  • paraganglioma
  • lymphadenopathy
  • adrenal overactivity
  • adrenocortical adenoma
  • arrhythmia
  • fatigue
  • leiomyosarcoma
  • mediastinal lymphadenopathy
  • gastrointestinal stroma tumor

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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Genetic tests related to Carney Triad:

id Genetic test Affiliating Genes
1 Carney Triad25

Anatomical Context for Carney Triad

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MalaCards organs/tissues related to Carney Triad:

34
Lung, Liver, Lymph node

Animal Models for Carney Triad or affiliated genes

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MGI Mouse Phenotypes related to Carney Triad:

39
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
Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. (23681078)
2013
7
Carney triad. (23652673)
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
Images for diagnosis. An unusual case of Carney triad with high level catecholamine-secreting but no existence of extra-adrenal paraganglioma. (20193497)
2010
15
Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. (20705254)
2010
16
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. (20119652)
2010
17
Multicentric paragangliomas associated with Carney triad. (20336905)
2010
18
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
19
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. (19935059)
2010
20
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. (19723753)
2009
21
Incomplete Carney triad--a review of two cases. (19561114)
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
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
29
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. (18043038)
2007
30
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
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
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
Interventional radiology in Carney triad. (15108016)
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
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. (10377927)
1999
39
A case of the Carney triad. (15251665)
1999
40
The Carney Triad: a lesson in observation, creativity, and perseverance. (10377941)
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
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 pathwaysScoreTop Affiliating Genes
19.3KIT, PDGFRA
29.3KIT, PDGFRA
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
7
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:004527310.3SDHB, 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
2respiratory electron transport chainGO:002290410.1SDHA, SDHB
3aerobic respirationGO:000906010.0SDHB, SDHC
4positive regulation of phospholipase C activityGO:00108639.9KIT, PDGFRA
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:00140689.3KIT, 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:000817710.0SDHA, SDHB
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.6KIT, PDGFRA
3transmembrane receptor protein tyrosine kinase activityGO:00047149.4KIT, PDGFRA
4succinate dehydrogenase activityGO:00001049.2SDHA, SDHC, SDHD
5ubiquinone bindingGO:00480398.9SDHB, SDHD
6electron carrier activityGO:00090558.9SDHB, SDHC, SDHD

Sources for Carney Triad

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet