Carney Triad

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OMIM 53 604287 Orphanet 55 ORPHA139411 UMLS via Orphanet 70 C1858592 ICD10 via Orphanet 33 D44.8

MedGen 39 C1858592 SNOMED-CT via HPO 65 24184005 38341003 389026000 3424008 86651002 165397008 271737000 267060006 62315008 16932000 21522001 79890006 74474003 25064002 302835009 399343007 85583005 127027008 253029009 302833002 72787006 803009 18365006 255036008 302826002 248274002 84229001 443719001 51549004 52324001 128755003 420120006 more UMLS 69 C1858592

NIH Rare Diseases : ⁴⁹ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139411Disease definitionCarney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.EpidemiologyLess than 100 cases have been reported worldwide. Carney's triad primarily affects young women (mean age of onset 20 years).Clinical descriptionMost patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Additional features include headaches, fatigue, anorexia, hypertension and tachycardia. Pulmonary chondromas (well-differentiated benign cartilaginous tumors) occur in approximately 80% of cases. They are often asymptomatic and may be unilateral (83%) or bilateral (32%). Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients.EtiologyThe etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad, while SDHD, SDHB or SDHC germline mutations have been found in some patients with Carney-Stratakis dyad (see this term).Diagnostic methodsGastroscopy, radiography and computing tomography are the main diagnostic methods. SDH genetic testing is available. The absence of a paraganglioma, which usually completes the triad after several years (median: 6 years), does not allow exclusion of the diagnosis of Carney's triad. Iodine 131-metoiodobenzylguanidine scintigraphy and Octrescan® may help to detect paragangliomas.Differential diagnosisThe differential diagnosis should include Carney-Stratakis dyad.Management and treatmentThe treatment of choice for GIST and its metastases (overall rate: 50%) is surgical resection. GIST associated with Carney's triad are mostly indolent. Recurrence after surgery is found in approximately 50% of patients, with a mean interval after the initial presentation of 12 years. Imatinib mesylate, an effective agent in the treatment of GIST, is under investigation as an adjuvant treatment. Paragangliomas require surgical resection; chemotherapy and metabolic radiotherapy may be used in malignant cases (overall rate: 10%). Surgery for pulmonary chondromas is indicated only in case of impaired lung function. Approaches targeting SDH function may potentially be useful in treating patients with Carney's triad who show SDH deficiencies. However, at present, there is no drug that restores SDH function. Life-long follow-up should be offered to all patients with Carney's triad.Visit the Orphanet disease page for more resources. Last updated: 9/17/2008

MalaCards based summary : Carney Triad, also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma, is related to paragangliomas 1 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 lung, testes and lymph node, and related phenotypes are hematopoietic system and homeostasis/metabolism

Description from OMIM: 604287

Clinical features from OMIM:

604287

Search Clinical Trials , NIH Clinical Center for Carney Triad

Search GEO for disease gene expression data for Carney Triad.