From HPO
Hamartoma- MedGen UID:
- 6713
- •Concept ID:
- C0018552
- •
- Neoplastic Process
A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
Nephroblastoma- MedGen UID:
- 10221
- •Concept ID:
- C0027708
- •
- Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Parathyroid gland adenoma- MedGen UID:
- 75502
- •Concept ID:
- C0262587
- •
- Neoplastic Process
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
Renal cortical adenoma- MedGen UID:
- 577332
- •Concept ID:
- C0346253
- •
- Neoplastic Process
The presence of an adenoma in the cortex of the kidney.
Parathyroid carcinoma- MedGen UID:
- 146361
- •Concept ID:
- C0687150
- •
- Neoplastic Process
The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in up to 95% 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 individuals, 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. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with apparently sporadic parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). FIHP is characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.
Papillary renal cell carcinoma- MedGen UID:
- 266300
- •Concept ID:
- C1306837
- •
- Neoplastic Process
The presence of renal cell carcinoma in the renal papilla.
Hurthle cell thyroid adenoma- MedGen UID:
- 237009
- •Concept ID:
- C1336750
- •
- Neoplastic Process
A kind of thyroid adenoma characterized by the presence of oxyphil cells.
Polycystic kidney disease- MedGen UID:
- 9639
- •Concept ID:
- C0022680
- •
- Disease or Syndrome
The presence of multiple cysts in both kidneys.
Nephrolithiasis- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Pancreatic adenocarcinoma- MedGen UID:
- 83800
- •Concept ID:
- C0281361
- •
- Neoplastic Process
The presence of an adenocarcinoma of the pancreas.
Recurrent pancreatitis- MedGen UID:
- 1639431
- •Concept ID:
- C4551632
- •
- Disease or Syndrome
A recurrent form of pancreatitis.
Hypercalcemia- MedGen UID:
- 5686
- •Concept ID:
- C0020437
- •
- Disease or Syndrome
An abnormally increased calcium concentration in the blood.
Abnormality of the head- MedGen UID:
- 867438
- •Concept ID:
- C4021812
- •
- Anatomical Abnormality
An abnormality of the head.
Hyperparathyroidism- MedGen UID:
- 6967
- •Concept ID:
- C0020502
- •
- Disease or Syndrome
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Neoplasm