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Results: 3

1.

Hyperparathyroidism 1

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 are aggressive and 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 GeneReviews]

MedGen UID:
333554
Concept ID:
C1840402
Disease or Syndrome
2.

Hyperparathyroidism 2

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 are aggressive and 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 GeneReviews]

MedGen UID:
310065
Concept ID:
C1704981
Disease or Syndrome
3.

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 are aggressive and 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 GeneReviews]

MedGen UID:
146361
Concept ID:
C0687150
Neoplastic Process

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