eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| parathyroid carcinoma | ||||
| Disease ID | 352 |
|---|---|
| Disease | parathyroid carcinoma |
| Definition | A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion. |
| Synonym | adenocarcinoma of parathyroid adenocarcinoma of parathyroid gland adenocarcinoma of the parathyroid adenocarcinoma of the parathyroid gland cancer of parathyroid cancer of parathyroid gland cancer of the parathyroid cancer of the parathyroid gland cancer, parathyroid cancers, parathyroid carcinoma of parathyroid carcinoma of parathyroid gland carcinoma of the parathyroid carcinoma of the parathyroid gland carcinoma parathyroid carcinoma, parathyroid carcinomas, parathyroid parathyroid adenocarcinoma parathyroid cancer, adenocarcinoma parathyroid cancer, nos parathyroid cancers parathyroid carcinoma (disorder) parathyroid carcinomas parathyroid gland adenocarcinoma parathyroid gland cancer parathyroid gland carcinoma parathyroid, adenocarcinoma parathyroid, carcinoma prtc |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0687150 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0221002 | primary hyperparathyroidism | 8 C0020502 | hyperparathyroidism | 5 C0020437 | hypercalcemia | 3 C0020437 | hypercalcaemia | 2 C0262587 | parathyroid adenoma | 1 C0494165 | liver metastasis | 1 C0151468 | thyroid adenoma | 1 C0020503 | secondary hyperparathyroidism | 1 C0238463 | papillary thyroid carcinoma | 1 C0153676 | lung metastasis | 1 C0040127 | thyroid crisis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:32) 8707 | B3GALT2 | 3.394 | DISEASES 57448 | BIRC6 | 1.945 | DISEASES 675 | BRCA2 | 1.23 | DISEASES 796 | CALCA | 3.612 | DISEASES 846 | CASR | 4.315 | DISEASES 79577 | CDC73 | 7.273 | DISEASES 1499 | CTNNB1 | 1.536 | DISEASES 1937 | EEF1G | 2.408 | DISEASES 9247 | GCM2 | 1.782 | DISEASES 51022 | GLRX2 | 2.175 | DISEASES 3738 | KCNA3 | 1.127 | DISEASES 9851 | KIAA0753 | 1.675 | DISEASES 4221 | MEN1 | 4.673 | DISEASES 4288 | MKI67 | 1.852 | DISEASES 4720 | NDUFS2 | 1.159 | DISEASES 158471 | PRUNE2 | 2.306 | DISEASES 374308 | PTCHD3 | 1.477 | DISEASES 5744 | PTHLH | 2.185 | DISEASES 5979 | RET | 2.145 | DISEASES 56254 | RNF20 | 2.278 | DISEASES 9810 | RNF40 | 2.577 | DISEASES 344892 | RTP2 | 4.16 | DISEASES 6611 | SMS | 2.159 | DISEASES 23583 | SMUG1 | 2.277 | DISEASES 6839 | SUV39H1 | 1.387 | DISEASES 10732 | TCFL5 | 1.257 | DISEASES 84260 | TCHP | 2.061 | DISEASES 9967 | THRAP3 | 2.833 | DISEASES 6738 | TROVE2 | 1.086 | DISEASES 51377 | UCHL5 | 1.939 | DISEASES 9218 | VAPA | 1.219 | DISEASES 7516 | XRCC2 | 1.321 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CDC73 | 1q31.2 |
| Disease ID | 352 |
|---|---|
| Disease | parathyroid carcinoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0004398 | Peptic ulcer HP:0000787 | Nephrolithiasis HP:0012378 | Fatigue HP:0002015 | Dysphagia HP:0003165 | Elevated circulating parathyroid hormone level HP:0001733 | Pancreatitis HP:0002653 | Bone pain HP:0002019 | Constipation HP:0010788 | Testicular neoplasm HP:0001824 | Weight loss HP:0012032 | Lipoma HP:0002315 | Headache HP:0000083 | Renal insufficiency HP:0010614 | Fibroma HP:0008696 | Renal hamartoma HP:0000107 | Renal cyst HP:0000934 | Chondrocalcinosis HP:0002017 | Nausea and vomiting HP:0002574 | Episodic abdominal pain HP:0008200 | Primary hyperparathyroidism HP:0006725 | Pancreatic adenocarcinoma HP:0001609 | Hoarse voice HP:0200025 | Mandibular pain HP:0011766 | Abnormality of the parathyroid morphology HP:0002150 | Hypercalciuria HP:0002667 | Nephroblastoma HP:0000121 | Nephrocalcinosis HP:0000939 | Osteoporosis HP:0008250 | Infantile hypercalcemia HP:0000131 | Uterine leiomyoma HP:0001959 | Polydipsia HP:0002890 | Thyroid carcinoma HP:0003072 | Hypercalcemia HP:0006780 | Parathyroid carcinoma HP:0001324 | Muscle weakness HP:0012232 | Shortened QT interval HP:0002148 | Hypophosphatemia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0008200 | Primary hyperparathyroidism | 8 HP:0003072 | Hypercalcemia | 6 HP:0000843 | Hyperparathyroidism | 5 HP:0002664 | Neoplasia | 4 HP:0011782 | Thyroid crisis | 1 HP:0100568 | Endocrine neoplasia | 1 HP:0002897 | Parathyroid adenoma | 1 HP:0008208 | Parathyroid hyperplasia | 1 HP:0002895 | Papillary thyroid carcinoma | 1 HP:0000854 | Thyroid adenoma | 1 HP:0000867 | Secondary hyperparathyroidism | 1 HP:0002756 | Pathologic fracture | 1 HP:0008249 | Large thyroid | 1 HP:0002835 | Aspiration | 1 |
| Disease ID | 352 |
|---|---|
| Disease | parathyroid carcinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:15) C1550639 | fistula C0686619 | lymph node metastases C0555278 | cerebral metastasis C0221002 | primary hyperparathyroidism C0220650 | brain metastasis C0153690 | bone metastases C0153676 | pulmonary metastasis C0153676 | pulmonary metastases C0040127 | thyroid crisis C0022661 | chronic renal failure C0020503 | secondary hyperparathyroidism C0020502 | hyperparathyroidism C0020437 | hypercalcemia C0020437 | hypercalcaemia C0019080 | hemorrhage |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0221002 | primary hyperparathyroidism | 8 C0020502 | hyperparathyroidism | 5 C0020437 | hypercalcemia | 4 C0020437 | hypercalcaemia | 2 C0020503 | secondary hyperparathyroidism | 1 C0040127 | thyroid crisis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042636 | 22166946 | 846 | CASR | umls:C0687150 | BeFree | Calcium-sensing receptor polymorphism rs1042636 (Arg990Gly) affects the response to the calcimimetic cinacalcet, used to treat hypercalcemia in secondary hyperparathyroidism (sHPT) or parathyroid carcinoma. | 0.001085767 | 2012 | CASR | 3 | 122284922 | A | G |
| rs121434263 | NA | 79577 | CDC73 | umls:C0687150 | CLINVAR | NA | 0.2551248 | NA | CDC73;LOC101929160 | 1 | 193122328 | G | A |
| rs121434265 | NA | 79577 | CDC73 | umls:C0687150 | CLINVAR | NA | 0.2551248 | NA | CDC73;LOC101929160 | 1 | 193125142 | C | G |
| rs587776560 | NA | 79577 | CDC73 | umls:C0687150 | CLINVAR | NA | 0.2551248 | NA | CDC73;LOC101929160 | 1 | 193122285 | G | - |
| rs587776561 | NA | 79577 | CDC73 | umls:C0687150 | CLINVAR | NA | 0.2551248 | NA | CDC73;LOC101929160 | 1 | 193122213 | CTTAGCGTCCTGCGACAG | - |
| rs80356649 | NA | 79577 | CDC73 | umls:C0687150 | CLINVAR | NA | 0.2551248 | NA | CDC73 | 1 | 193142016 | - | AG |
| rs80356650 | NA | 79577 | CDC73 | umls:C0687150 | CLINVAR | NA | 0.2551248 | NA | CDC73 | 1 | 193147903 | GT | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200025 | Mandibular pain | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0002890 | Thyroid carcinoma | MP:0003331 | increased hepatocellular carcinoma incidence | greater than the expected number of a malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury, occurring in a specific population in a given time period |
| HP:0012232 | Shortened QT interval | MP:0003233 | prolonged QT interval | increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| HP:0003165 | Elevated circulating parathyroid hormone (PTH) level | MP:0011612 | increased circulating ghrelin level | greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from th |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
| 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:0000107 | Renal cyst | MP:0003266 | biliary cyst | the appearance of fluid-filled sacs within the bile ducts |
Mapped by homologous gene(Total Items:35) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006780 | Parathyroid carcinoma | MP:0012118 | absent trophectoderm cell proliferation | |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001609 | Hoarse voice | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004398 | Peptic ulcer | 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:0012232 | Shortened QT interval | MP:0013566 | dilated gastric glands | stretched or widened aperture of the luminal space of any of the branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002667 | Nephroblastoma (Wilms tumor) | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000107 | Renal cyst | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010788 | Testicular neoplasm | MP:0013604 | abnormal adult Leydig cell differentiation | atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that contr |
| HP:0000121 | Nephrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000934 | Chondrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0002574 | Episodic abdominal pain | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0008200 | Primary hyperparathyroidism | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002148 | Hypophosphatemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0012032 | Lipoma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0200025 | Mandibular pain | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0000131 | Uterine leiomyoma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0003165 | Elevated circulating parathyroid hormone (PTH) level | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0008250 | Infantile hypercalcemia | MP:0011228 | abnormal vitamin D level | any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin |
| HP:0001959 | Polydipsia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0010614 | Fibroma | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0002150 | Hypercalciuria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006725 | Pancreatic adenocarcinoma | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0002890 | Thyroid carcinoma | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| Disease ID | 352 |
|---|---|
| Disease | parathyroid carcinoma |
| Case | (Waiting for update.) |