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1.

Parathyroid carcinoma

A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. [from HPO]

MedGen UID:
505982
Concept ID:
CN005903
Finding
2.

Parathyroid carcinoma

The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor syndrome (HPT-JT). Parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in more than 70% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of cases, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. [from GTR]

MedGen UID:
146361
Concept ID:
C0687150
Neoplastic Process
3.

Malignancies

MedGen UID:
924235
Concept ID:
C4282132
Neoplastic Process
4.

Cinacalcet

MedGen UID:
277894
Concept ID:
C1337242
Organic Chemical; Pharmacologic Substance
5.

Primary hyperparathyroidism

A condition of abnormally elevated output of PARATHYROID HORMONE due to parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. It is characterized by the combination of HYPERCALCEMIA, phosphaturia, elevated renal 1,25-DIHYDROXYVITAMIN D3 synthesis, and increased BONE RESORPTION. [from MeSH]

MedGen UID:
66354
Concept ID:
C0221002
Disease or Syndrome
6.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Hyperparathyroidism

A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES. [from MeSH]

MedGen UID:
6967
Concept ID:
C0020502
Disease or Syndrome
8.

Hypercalcemia

Abnormally high concentration of calcium in the peripheral blood. [from NCI]

MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome; Finding
9.

Carcinoma

A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed) [from MeSH]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
10.

Calcium

A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [from MeSH]

MedGen UID:
710
Concept ID:
C0006675
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
11.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
12.

Usually

A response indicating that something happens or happened most of the time. [from NCI]

MedGen UID:
854883
Concept ID:
C3888388
Finding
13.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from GTR]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
14.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
15.

Primary hyperparathyroidism

A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. [from HPO]

MedGen UID:
506181
Concept ID:
CN007204
Finding
16.

Hyperparathyroidism

Excessive production of parathyroid hormone (PTH) by the parathyroid glands. [from HPO]

MedGen UID:
504623
Concept ID:
CN000789
Finding
17.

Invasion

The movement of one cell type into an area normally occupied by a different cell type. [from NCI]

MedGen UID:
397081
Concept ID:
C2699153
Pathologic Function
18.

Sporadic

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [from HPO]

MedGen UID:
342827
Concept ID:
C1853237
Finding
19.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
20.

Course of illness

The worsening of a disease over time. [from NCI]

MedGen UID:
116631
Concept ID:
C0242656
Pathologic Function
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