MCID: CRN055
MIFTS: 41

Carney Triad malady

Endocrine diseases, Cancer diseases, Gastrointestinal diseases categories

Summaries for Carney Triad

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to paraganglioma and gastrointestinal stromal tumor, and has symptoms including neoplasms/tumors, pheochromocytoma/paraganglioma and sarcoma. An important gene associated with Carney Triad is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways are Cardiac Progenitor Differentiation and Metabolism. The compounds mibg and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are muscle and cardiovascular system.

Description from OMIM:46 604287

Aliases & Classifications for Carney Triad

About this section
Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Endocrine diseases, Gastrointestinal diseases


Characteristics (Orphanet epidemiological data):

48
carney triad:
Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

carney triad 42 44 48 46 60
gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma 42


External Ids:

OMIM46 604287
ICD10 via Orphanet26 D44.8

Related Diseases for Carney Triad

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma30.8SDHD, SDHB, SDHA, KIT, SDHC
2gastrointestinal stromal tumor30.7KIT, PDGFRA
3chondroma30.6PDGFRA, SDHD, SDHC, SDHB
4sarcoma30.5DES, KIT, ACTC1, PDGFRA
5adenoma30.1ACTC1
6pheochromocytoma30.1SDHD, SDHB
7neurofibromatosis30.1SDHB, SDHD
8adrenal adenoma30.1SDHB, SDHD, SDHC
9leiomyoma30.1PDGFRA, DES, KIT, ACTC1
10hepatitis a10.1
11hepatitis10.1
12image syndrome10.1
13paragangliomas 1, with or without deafness10.1
14leiomyomatosis10.0SDHB
15acute leukemia10.0KIT
16germ cell tumors10.0KIT
17hepatocellular carcinoma10.0PDGFRA
18oligodendroglioma10.0PDGFRA
19infantile myofibromatosis10.0DES
20liposarcoma10.0DES
21uterine carcinosarcoma10.0KIT
22myoepithelioma10.0ACTC1
23ductal carcinoma in situ10.0PDPN
24sertoli cell tumor10.0DES
25meningioma10.0PDPN
26osteosarcoma10.0PDGFRA
27familial colorectal cancer10.0SDHD, SDHB
28benign mesothelioma10.0PDPN
29seminal vesicle tumor10.0SDHA
30gastrointestinal stromal tumor, somatic10.0KIT, PDGFRA
31mesenchymal cell neoplasm10.0PDGFRA, KIT
32mastocytosis10.0KIT, PDGFRA
33systemic mastocytosis10.0KIT, PDGFRA
34chondrosarcoma10.0PDGFRA, DES
35piebaldism10.0KIT, PDGFRA
36uterine sarcoma10.0KIT, DES
37chordoma10.0PDGFRA, DES
38chronic myelomonocytic leukemia10.0PDGFRA, KIT
39hereditary paraganglioma-pheochromocytoma syndromes10.0SDHB, SDHD, SDHC
40von hippel-lindau disease10.0SDHD, SDHC, SDHB
41paraganglioma and gastric stromal sarcoma10.0SDHD, SDHB, SDHC
42carotid body tumor10.0SDHD, SDHC, SDHB
43dedifferentiated liposarcoma10.0DES, KIT
44multiple endocrine neoplasia type 2a10.0SDHD, SDHC, SDHB
45adenosarcoma10.0ACTC1, DES
46malignant peripheral nerve sheath tumor10.0PDGFRA, KIT
47multiple endocrine neoplasia10.0SDHD, SDHB, SDHC
48wermer syndrome10.0SDHD, SDHC, SDHB
49epithelioid leiomyosarcoma10.0ACTC1, DES
50hyperparathyroidism10.0SDHC, SDHB, SDHD

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



Diseases related to carney triad

Clinical Features for Carney Triad

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

604287

Symptoms:

48 (show all 21)
  • neoplasms/tumors
  • pheochromocytoma/paraganglioma
  • sarcoma
  • cortico-adrenal hyperplasia/hypersecretion
  • lymphadenopathy/polyadenopathies
  • acute diarrhea
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • mediastinal anomalies
  • anorexia
  • facial pain/cephalalgia/migraine
  • chronic arterial hypertension
  • asthenia/fatigue/weakness
  • cardiac rhythm disorder/arrhythmia
  • ascitis
  • hepatitis/icterus/cholestasis
  • anaemia
  • acute abdominal pain/colic
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • nausea/vomiting/regurgitation/merycism/hyperemesis

Drugs & Therapeutics for Carney Triad

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Carney Triad

Drug clinical trials:

Search ClinicalTrials for Carney Triad

Search NIH Clinical Center for Carney Triad

Search CenterWatch for Carney Triad

Genetic Tests for Carney Triad

About this section

Anatomical Context for Carney Triad

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Carney Triad:

32
Lung

Animal Models for Carney Triad or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Carney Triad:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2PDGFRA, ACTC1
2MP:00053857.3SDHD, ACTC1, KIT, DES, PDPN, PDGFRA
3MP:00107687.1SDHC, SDHD, ACTC1, KIT, DES, PDPN

Publications for Carney Triad

About this section

Genetic Variations for Carney Triad

About this section

Expression for genes affiliated with Carney Triad

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Carney Triad

Search GEO for disease gene expression data for Carney Triad.

Pathways for genes affiliated with Carney Triad

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Carney Triad

About this section
Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
See all sources

Compounds related to Carney Triad according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1mibg449.9SDHD, SDHB
2pkc 412449.9KIT, PDGFRA
3ag-1296449.9KIT, PDGFRA
4thenoyltrifluoroacetone44 1110.8SDHB, SDHA
5fumarate44 1110.8SDHC, SDHB, SDHD
6Pazopanib119.8KIT, PDGFRA
7Ponatinib 119.7KIT, PDGFRA
8sunitinib44 49 1111.6KIT, PDGFRA
9Regorafenib119.5PDGFRA, KIT
10orcein449.5DES, ACTC1
11toluidine449.4KIT, DES
12s 100449.4ACTC1, DES
13reticulin449.3ACTC1, DES
14mucicarmine449.3DES, ACTC1
15UBIQUINONE-1119.2SDHA, SDHC, SDHB, SDHD
162-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol119.2SDHD, SDHB, SDHC, SDHA
17succinic acid28 11 2411.2SDHD, SDHB, SDHC, SDHA
18iron-sulfur449.2SDHD, SDHB, SDHC, SDHA
19ubiquinone449.2SDHD, SDHB, SDHC, SDHA
20succinate449.2SDHD, SDHB, SDHC, SDHA
21nad+449.0SDHA, SDHB, DES
22b 723449.0PDPN, DES, ACTC1
23gold448.9PDPN, DES, KIT
24formaldehyde44 249.9DES, KIT, ACTC1
25glycogen44 249.6SDHB, ACTC1, KIT, DES
26imatinib44 49 1110.6ACTC1, KIT, DES, PDGFRA
27hematoxylin448.5ACTC1, KIT, DES, PDPN
28testosterone44 59 11 2411.3SDHB, ACTC1, KIT, DES
29retinoic acid44 249.2PDGFRA, DES, KIT, ACTC1, SDHC
30paraffin448.1PDGFRA, PDPN, DES, KIT, ACTC1
31steroid448.0SDHC, ACTC1, KIT, DES
32iron44 248.9DES, ACTC1, SDHD, SDHB, SDHC, SDHA
33oxygen44 248.8DES, ACTC1, SDHD, SDHB, SDHC, SDHA
34tyrosine447.7PDGFRA, PDPN, DES, KIT, ACTC1, SDHB
35vegf447.4PDGFRA, PDPN, DES, KIT, ACTC1, SDHB

GO Terms for genes affiliated with Carney Triad

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Carney Triad according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.8SDHA, SDHC, SDHB, SDHD
2mitochondrial respiratory chain complex IIGO:0057498.5SDHA, SDHC, SDHB, SDHD

Biological processes related to Carney Triad according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:0090609.8SDHC, SDHB
2positive regulation of phospholipase C activityGO:0108639.8KIT, PDGFRA
3cardiac myofibril assemblyGO:0550039.7ACTC1, PDGFRA
4succinate metabolic processGO:0061059.6SDHB, SDHA
5cell chemotaxisGO:0603269.6PDGFRA, KIT
6positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.6KIT, PDGFRA
7positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.5KIT, PDGFRA
8tricarboxylic acid cycleGO:0060999.1SDHA, SDHC, SDHB, SDHD
9respiratory electron transport chainGO:0229049.0SDHD, SDHB, SDHC, SDHA
10cellular metabolic processGO:0442379.0SDHA, SDHC, SDHB, SDHD
11muscle filament slidingGO:0300498.8ACTC1, DES

Molecular functions related to Carney Triad according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:0480399.7SDHD, SDHB
2transmembrane receptor protein tyrosine kinase activityGO:0047149.6KIT, PDGFRA
3succinate dehydrogenase (ubiquinone) activityGO:0081779.5SDHA, SDHB
4succinate dehydrogenase activityGO:0001049.3SDHA, SDHC, SDHD
5electron carrier activityGO:0090559.1SDHC, SDHB, SDHD

Products for genes affiliated with Carney Triad

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carney Triad

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet