eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyperparathyroidism-jaw tumor syndrome | ||||
| Disease ID | 1072 |
|---|---|
| Disease | hyperparathyroidism-jaw tumor syndrome |
| Definition | An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. |
| Synonym | familial cystic parathyroid adenomatosis familial primary hyperparathyroidism with multiple ossifying jaw fibromas hereditary hyperparathyroidism-jaw tumor syndrome hyperparathyroidism 2 hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas hyperparathyroidism-jaw tumor syndrome (disorder) hyperparathyroidism-jaw tumor syndrome, hereditary hyperparathyroidism-jaw tumour syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1704981 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) CDC73 | 1q31.2 |
| Disease ID | 1072 |
|---|---|
| Disease | hyperparathyroidism-jaw tumor syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:46) HP:0004398 | Peptic ulcer HP:0000843 | Hyperparathyroidism 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:0012032 | Lipoma HP:0002315 | Headache HP:0100027 | Recurring pancreatitis HP:0006766 | Papillary renal cell carcinoma HP:0010614 | Fibroma HP:0000083 | Renal insufficiency HP:0008696 | Renal hamartoma HP:0010566 | 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:0002667 | Wilms tumor HP:0200025 | Mandibular pain HP:0006781 | Hurthle cell thyroid adenoma HP:0011766 | Abnormality of the parathyroid morphology HP:0002150 | Hypercalciuria HP:0002667 | Nephroblastoma HP:0000234 | Head abnormality HP:0000121 | Nephrocalcinosis HP:0000939 | Osteoporosis HP:0008250 | Infantile hypercalcemia HP:0000131 | Uterine leiomyoma HP:0006780 | Parathyroid Cancer HP:0001959 | Polydipsia HP:0002890 | Thyroid carcinoma HP:0003072 | Hypercalcemia HP:0000787 | Renal calculi HP:0006735 | Kidney cortical adenoma HP:0001324 | Muscle weakness HP:0012232 | Shortened QT interval HP:0000113 | Polycystic kidney dysplasia HP:0002148 | Hypophosphatemia HP:0002897 | Parathyroid adenoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000854 | Thyroid adenoma | 1 HP:0030426 | Ossifying fibroma | 1 HP:0430028 | Increased size of maxilla | 1 HP:0010614 | Fibroma | 1 HP:0002897 | Parathyroid adenoma | 1 |
| Disease ID | 1072 |
|---|---|
| Disease | hyperparathyroidism-jaw tumor syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C2697380 | parathyroid carcinoma |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434262 | NA | 79577 | CDC73 | umls:C1704981 | CLINVAR | NA | 0.494114977 | NA | CDC73;LOC101929160 | 1 | 193122225 | C | T |
| rs28942098 | NA | 79577 | CDC73 | umls:C1704981 | CLINVAR | NA | 0.494114977 | NA | CDC73;LOC101929160 | 1 | 193122203 | G | A |
| rs587776559 | NA | 79577 | CDC73 | umls:C1704981 | CLINVAR | NA | 0.494114977 | NA | CDC73;LOC101929160 | 1 | 193130173 | G | A |
| rs794727303 | NA | 79577 | CDC73 | umls:C1704981 | CLINVAR | NA | 0.494114977 | NA | CDC73;LOC101929160 | 1 | 193125218 | G | T |
| rs80356649 | NA | 79577 | CDC73 | umls:C1704981 | CLINVAR | NA | 0.494114977 | NA | CDC73 | 1 | 193142016 | - | AG |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002897 | Parathyroid 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:0000234 | Abnormality of the head | MP:0004613 | fusion of vertebral arches | improper union of the dorsal part of adjacent vertebra |
| HP:0000113 | Polycystic kidney dysplasia | MP:0011565 | kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| HP:0006766 | Papillary renal cell carcinoma | MP:0012118 | absent trophectoderm cell proliferation | |
| 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:0006781 | Hurthle cell thyroid adenoma | MP:0012118 | absent trophectoderm cell proliferation | |
| 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:42) | ||||
|---|---|---|---|---|
| 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: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 |
| 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:0006735 | Renal cortical adenoma | MP:0012118 | absent trophectoderm cell proliferation | |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006781 | Hurthle cell thyroid adenoma | MP:0012118 | absent trophectoderm cell proliferation | |
| 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:0000234 | Abnormality of the head | MP:0013168 | absent hindlimb buds | absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002897 | Parathyroid 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: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:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000934 | Chondrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000843 | Hyperparathyroidism | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| 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: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:0000113 | Polycystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0010566 | Hamartoma | 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:0100027 | Recurrent pancreatitis | MP:0012118 | absent trophectoderm cell proliferation | |
| 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:0006766 | Papillary renal cell carcinoma | 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 |
| Disease ID | 1072 |
|---|---|
| Disease | hyperparathyroidism-jaw tumor syndrome |
| Case | (Waiting for update.) |