eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| carney triad | ||||
| Disease ID | 811 |
|---|---|
| Disease | carney triad |
| Definition | An extremely rare syndrome characterized by the presence of gastrointestinal stromal tumors, pulmonary chondroma, and/or extra-adrenal paraganglioma. There is no evidence of familial inheritance. |
| Synonym | gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma |
| Orphanet | |
| OMIM | |
| UMLS | C1858592 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 811 |
|---|---|
| Disease | carney triad |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0100243 | Leiomyosarcoma HP:0002716 | Lymphadenopathy HP:0002239 | Gastrointestinal hemorrhage HP:0008256 | Adrenocortical adenoma HP:0002666 | Pheochromocytoma HP:0002668 | Paraganglioma HP:0012378 | Fatigue HP:0100721 | Mediastinal lymphadenopathy HP:0002014 | Diarrhea HP:0011675 | Arrhythmia HP:0002027 | Abdominal pain HP:0000822 | Hypertension HP:0002017 | Nausea and vomiting HP:0002113 | Pulmonary infiltrates HP:0002315 | Headache HP:0002717 | Adrenal overactivity HP:0001649 | Tachycardia HP:0001541 | Ascites HP:0002039 | Anorexia HP:0001903 | Anemia HP:0100723 | Gastrointestinal stroma tumor |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 811 |
|---|---|
| Disease | carney triad |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs142441643 | NA | 6389 | SDHA | umls:C1858592 | CLINVAR | NA | 0.120271442 | NA | SDHA | 5 | 223509 | C | T |
| rs587776653 | NA | 6391 | SDHC | umls:C1858592 | CLINVAR | NA | 0.120814326 | NA | SDHC | 1 | 161356841 | G | A,T |
| rs786201095 | NA | 6390 | SDHB | umls:C1858592 | CLINVAR | NA | 0.121085767 | NA | SDHB | 1 | 17028643 | A | C |
| rs786205145 | NA | 6389 | SDHA | umls:C1858592 | CLINVAR | NA | 0.120271442 | NA | SDHA | 5 | 224504 | C | T |
| rs786205146 | NA | 6391 | SDHC | umls:C1858592 | CLINVAR | NA | 0.120814326 | NA | SDHC | 1 | 161314411 | T | - |
| rs786205147 | NA | 6391 | SDHC | umls:C1858592 | CLINVAR | NA | 0.120814326 | NA | SDHC | 1 | 161340638 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100723 | Gastrointestinal stroma tumor | MP:0010279 | increased gastrointestinal tumor incidence | greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period |
| HP:0008256 | Adrenocortical adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
Mapped by homologous gene(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100723 | Gastrointestinal stroma tumor | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100721 | Mediastinal lymphadenopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001649 | Tachycardia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002666 | Pheochromocytoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008256 | Adrenocortical adenoma | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002668 | Paraganglioma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| Disease ID | 811 |
|---|---|
| Disease | carney triad |
| Case | (Waiting for update.) |