Details of CDC73 gene in Homo sapiens
Disease |
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| Disease |
OMIM id |
| Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors. Note=The disease is caused by mutations affecting the gene represented in this entry. |
145000 |
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001]: Autosomal dominant, multiple neoplasia syndrome primarily characterized by hyperparathyroidism due to parathyroid tumors. Thirty percent of individuals with HPT-JT may also develop ossifying fibromas, primarily of the mandible and maxilla, which are distinct from the brown tumors associated with severe hyperparathyroidism. Kidney lesions may also occur in HPT-JT as bilateral cysts, renal hamartomas or Wilms tumors. Note=The disease is caused by mutations affecting the gene represented in this entry. |
145001 |
Parathyroid carcinoma (PRTC) [MIM:608266]: These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment. Note=The gene represented in this entry is involved in disease pathogenesis. |
608266 |
Phenotypes
Abnormality of calcium homeostasis, Abnormality of cation homeostasis, Abnormality of divalent inorganic cation homeostasis, Abnormality of head and neck, Abnormality of ion homeostasis, Abnormality of metabolism/homeostasis, Abnormality of pancreas physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the endocrine system, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the kidney, Abnormality of the pancreas, Abnormality of the parathyroid gland, Abnormality of the parathyroid morphology, Abnormality of the parathyroid physiology, Abnormality of the thyroid gland, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of thyroid morphology, All, Autosomal dominant inheritance, Embryonal neoplasm, Embryonal renal neoplasm, Hamartoma, Hurthle cell thyroid adenoma, Hypercalcemia, Hyperparathyroidism, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of the endocrine system, Neoplasm of the genitourinary tract, Neoplasm of the pancreas, Neoplasm of the parathyroid gland, Neoplasm of the thyroid gland, Nephroblastoma (Wilms tumor), Nephrolithiasis, Pancreatic adenocarcinoma, Pancreatitis, Papillary renal cell carcinoma, Parathyroid carcinoma, Phenotypic abnormality, Polycystic kidney dysplasia, Primary hyperparathyroidism, Recurrent pancreatitis, Renal cell carcinoma, Renal cortical adenoma, Renal cysts, Renal neoplasm, Thyroid adenoma, Urinary tract neoplasm.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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