loading...| Preferred Name | Multiple Endocrine Neoplasia Type 1 | |
| Synonyms |
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| Definitions |
Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3225 |
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| ALT_DEFINITION |
A rare, inherited disorder that affects the endocrine glands and can cause tumors in the parathyroid and pituitary glands and the pancreas. These tumors are usually benign (not cancer). They cause the glands to secrete high levels of hormones, which can lead to other medical problems, such as kidney stones, fertility problems, and severe ulcers. In some cases, tumors inside the pancreas can become malignant (cancer). Multiple endocrine neoplasia caused by inactivating mutation(s) of the tumor suppressor gene MEN1, encoding the menin protein, a component of the histone methyltransferase complex. The condition is characterized by hyperfunctioning adenomas of the parathyroid glands, adrenal glands, pituitary gland, and pancreatic endocrine cells (most commonly gastrinomas and insulinomas); thymic and bronchial carcinoid tumors also may develop. |
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| code |
C3225 |
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| Contributing_Source |
Cellosaurus CCPS CTRP NICHD |
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| definition |
Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. |
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| Display_Name |
Multiple Endocrine Neoplasia Type 1 |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C118467 http://purl.obolibrary.org/obo/NCIT_C177281 |
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| label |
Multiple Endocrine Neoplasia Type 1 |
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| Legacy Concept Name |
Multiple_Endocrine_Neoplasia_Type_I |
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| Neoplastic_Status |
Undetermined |
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| Preferred_Name |
Multiple Endocrine Neoplasia Type 1 |
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| prefixIRI |
NCIT:C3225 |
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| prefLabel |
Multiple Endocrine Neoplasia Type 1 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Neoplastic Process |
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| UMLS_CUI |
C0025267 |
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| subClassOf |