Phenotypes associated with the disease Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880):
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:99880)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:99880)
- Primary hyperparathyroidism (HP:0008200): A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:99880)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99880)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99880)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99880)
- Abnormal parathyroid morphology (HP:0011766): A structural abnormality of the parathyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99880)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Uterine leiomyoma (HP:0000131): The presence of a leiomyoma of the uterus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Shortened QT interval (HP:0012232): Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99880)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Chondrocalcinosis (HP:0000934): Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Peptic ulcer (HP:0004398): The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Renal hamartoma (HP:0008696): A disordered proliferation of mature tissues that are native to the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Mandibular pain (HP:0200025): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99880)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99880)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99880)
- Pancreatic adenocarcinoma (HP:0006725): The presence of an adenocarcinoma of the pancreas. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99880)
- Testicular neoplasm (HP:0010788): The presence of a neoplasm of the testis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99880)
- Lipoma (HP:0012032): Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99880)