MCID: CRN055
MIFTS: 39

Carney Triad malady

Categories: Rare diseases, Endocrine diseases, Gastrointestinal diseases

Aliases & Classifications for Carney Triad

Aliases & Descriptions for Carney Triad:

Name: Carney Triad 54 50 56 29 52 69
Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma 50

Characteristics:

Orphanet epidemiological data:

56
carney triad
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 604287
Orphanet 56 ORPHA139411
ICD10 via Orphanet 34 D44.8

Summaries for Carney Triad

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 fatigue, headache and abdominal pain. An important gene associated with Carney Triad is PDGFRA (Platelet Derived Growth Factor Receptor Alpha), and among its related pathways/superpathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Affiliated tissues include lymph node and lung, and related phenotypes are mortality/aging and neoplasm

Description from OMIM: 604287

Related Diseases for Carney Triad

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

(show top 50) (show all 71)
id Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 29.9 SDHB SDHC SDHD
2 pheochromocytoma 29.2 SDHA SDHB SDHC SDHD
3 gastrointestinal stromal tumor 29.1 KIT PDGFRA SDHA SDHB SDHC SDHD
4 paragangliomas 1, with or without deafness 10.9
5 catastrophic antiphospholipid syndrome 10.2 SDHB SDHD
6 paraganglioma 10.2
7 acrocapitofemoral dysplasia 10.2 SDHB SDHD
8 bone ameloblastoma 10.2 SDHB SDHD
9 glomangioma 10.2 SDHB SDHD
10 central hypoventilation syndrome, congenital 10.1 SDHB SDHD
11 aneurysm 10.1 SDHB SDHC
12 invasive mole 10.1 KIT PDGFRA
13 ganglioneuroma 10.1 KIT PDGFRA
14 dfnb1 10.1 KIT PDGFRA
15 uremic neuropathy 10.1 KIT PDGFRA
16 kahrizi syndrome 10.1 KIT PDGFRA
17 monkeypox 10.1 KIT PDPN
18 lumbar spinal canal and spinal cord meningioma 10.1 SDHB SDHD
19 malignant epithelial mesothelioma 10.1 KIT PDGFRA
20 olfactory nerve disease 10.1 KIT PDGFRA
21 precursor t-lymphoblastic lymphoma/leukemia 10.1 KIT PDPN
22 rectum leiomyoma 10.1 KIT PDGFRA
23 pustulosis palmaris et plantaris 10.1 KIT PDGFRA
24 intravenous leiomyomatosis 10.1 SDHB SDHC SDHD
25 cerebral arterial disease 10.1 KIT PDGFRA
26 endocervical adenocarcinoma 10.1 SDHB SDHC SDHD
27 glioma susceptibility 2 10.1 SDHB SDHC SDHD
28 fragile x-associated tremor/ataxia syndrome 10.0 KIT PDGFRA
29 serous surface papilloma 10.0 SDHB SDHC SDHD
30 chondroma 10.0
31 non-syndromic male infertility due to sperm motility disorder 10.0 SDHB SDHC SDHD
32 non-syndromic x-linked intellectual disability 10.0 SDHB SDHC SDHD
33 childhood teratocarcinoma of the testis 10.0 SDHB SDHC SDHD
34 kidney clear cell sarcoma 10.0 KIT PDGFRA
35 erythrocytosis, familial, 2 10.0 SDHB SDHC SDHD
36 benign shuddering attacks 10.0 SDHB SDHC SDHD
37 hyperandrogenism due to cortisone reductase deficiency 10.0 KIT PDGFRA
38 fibrosarcoma 10.0 KIT PDGFRA
39 medullomyoblastoma 10.0 SDHA SDHB
40 small intestinal sarcoma 10.0 KIT PDGFRA
41 may-thurner syndrome 10.0 KIT PDGFRA
42 acute salpingitis 10.0 SDHA SDHD
43 dentinogenesis imperfecta, shields type ii 10.0 KIT PDGFRA
44 multifocal osteogenic sarcoma 10.0 KIT PDGFRA
45 temporomandibular ankylosis 10.0 KIT PDGFRA
46 prolapse of female genital organ 10.0 SDHA SDHD
47 sarcoma 10.0
48 c-p angle neurinoma 10.0 KIT PDGFRA
49 oral leukoedema 9.9 KIT PDGFRA
50 acute dacryoadenitis 9.9 KIT PDGFRA

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



Diseases related to Carney Triad

Symptoms & Phenotypes for Carney Triad

Clinical features from OMIM:

604287

Human phenotypes related to Carney Triad:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 headache 56 32 Occasional (29-5%) HP:0002315
3 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
4 diarrhea 56 32 Very frequent (99-80%) HP:0002014
5 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
6 hypertension 56 32 Occasional (29-5%) HP:0000822
7 ascites 56 32 Frequent (79-30%) HP:0001541
8 anemia 56 32 Occasional (29-5%) HP:0001903
9 anorexia 56 32 Occasional (29-5%) HP:0002039
10 pheochromocytoma 56 32 Very frequent (99-80%) HP:0002666
11 gastrointestinal hemorrhage 56 32 Very frequent (99-80%) HP:0002239
12 adrenocortical adenoma 56 32 Frequent (79-30%) HP:0008256
13 mediastinal lymphadenopathy 56 32 Frequent (79-30%) HP:0100721
14 leiomyosarcoma 56 32 Very frequent (99-80%) HP:0100243
15 tachycardia 56 32 Frequent (79-30%) HP:0001649
16 pulmonary infiltrates 56 32 Frequent (79-30%) HP:0002113
17 gastrointestinal stroma tumor 56 32 Very frequent (99-80%) HP:0100723
18 paraganglioma 56 32 Frequent (79-30%) HP:0002668
19 adrenal overactivity 56 32 Frequent (79-30%) HP:0002717
20 arrhythmia 56 Occasional (29-5%)
21 lymphadenopathy 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Carney Triad:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 KIT PDGFRA PDPN SDHA SDHB SDHC
2 neoplasm MP:0002006 8.92 KIT PDGFRA SDHB SDHD

Drugs & Therapeutics for Carney Triad

Search Clinical Trials , NIH Clinical Center for Carney Triad

Genetic Tests for Carney Triad

Genetic tests related to Carney Triad:

id Genetic test Affiliating Genes
1 Carney Triad 29

Anatomical Context for Carney Triad

MalaCards organs/tissues related to Carney Triad:

39
Lymph Node, Lung

Publications for Carney Triad

Articles related to Carney Triad:

(show all 42)
id Title Authors Year
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

ClinVar genetic disease variations for Carney Triad:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
2 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
3 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
4 SDHC NM_003001.3(SDHC): c.6delT (p.Ala3Argfs) deletion Likely pathogenic rs786205146 GRCh37 Chromosome 1, 161284201: 161284201
5 SDHC NM_003001.3(SDHC): c.224G> A (p.Gly75Asp) single nucleotide variant Likely pathogenic rs786205147 GRCh37 Chromosome 1, 161310428: 161310428
6 SDHA NM_004168.3(SDHA): c.295C> T (p.His99Tyr) single nucleotide variant Likely pathogenic rs786205145 GRCh38 Chromosome 5, 224504: 224504

Expression for Carney Triad

Search GEO for disease gene expression data for Carney Triad.

Pathways for Carney Triad

GO Terms for Carney Triad

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.46 SDHA SDHB SDHC SDHD
2 external side of plasma membrane GO:0009897 9.43 KIT PDGFRA PDPN
3 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 SDHA SDHB SDHC SDHD
2 cell chemotaxis GO:0060326 9.48 KIT PDGFRA
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 KIT PDGFRA
4 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.43 KIT PDGFRA
5 aerobic respiration GO:0009060 9.4 SDHB SDHC
6 respiratory electron transport chain GO:0022904 9.32 SDHA SDHB
7 positive regulation of phospholipase C activity GO:0010863 9.26 KIT PDGFRA
8 succinate metabolic process GO:0006105 9.16 SDHA SDHB
9 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.96 SDHA SDHD
10 tricarboxylic acid cycle GO:0006099 8.92 SDHA SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.4 KIT PDGFRA
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.37 KIT PDGFRA
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
5 ubiquinone binding GO:0048039 9.26 SDHB SDHD
6 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
7 succinate dehydrogenase activity GO:0000104 8.8 SDHA SDHC SDHD

Sources for Carney Triad

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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