Multiple endocrine neoplasia type 2A
Therapeutic area
Oncology
Rare disease
Yes
- Definition
- An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the RET gene, characterized by an increased risk of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Multiple endocrine neoplasia type 2A
- Therapeutic area
- Oncology
- multiple endocrine neoplasia type 2A
- MEA type 2a
- MEA type II
- MEN2A
- RET-related multiple endocrine neoplasia type 2A
- Sipple syndrome
- men 2A
- men type 2a
- men type II
- multiple endocrine adenomatosis type 2A
- multiple endocrine adenomatosis type 2a
- multiple endocrine adenomatosis type II
- multiple endocrine adenomatosis, type II
- multiple endocrine neoplasia IIA
- multiple endocrine neoplasia type 2A
- multiple endocrine neoplasia type II
- multiple endocrine neoplasia, type II
- ptc syndrome
- men-2A syndrome
- multiple endocrine neoplasia, type IIA
- pheochromocytoma and amyloid producing medullary thyroid carcinoma
- Severity
- Severe
- Developmental
- Genetic
- Hereditary
- Syndromic
- Endocrinology
- Oncology
- MONDO ID
- MONDO:0008234
- Parent condition
- MONDO:0000426
Related records
Broader conditions (33)
- Autosomal dominant disease
- Autosomal genetic disease
- Cancer
- Cancer or benign tumor
- Carcinoma
- Disease
- Disease by body system or component
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Disease susceptibility
- Disorder of development or morphogenesis
- Endocrine gland neoplasm
- Endocrine system disorder
- Epithelial neoplasm
- Hereditary disease
- Hereditary neoplastic syndrome
- Human disease
- Inherited disease susceptibility
- Malignant endocrine neoplasm
Trials (18)
- A Phase 1, First Time in Human (FTIH) Study to Evaluate GSK3352589, a REarranged During Transfection (RET) Growth Factor Receptor Tyrosine Kinase Inhibitor, in Healthy Volunteers
- A Phase 1, Randomized, Placebo-Controlled, Ascending Cohort, Dose Escalation Study in Normal Healthy Volunteers
- A Rollover Study of Alectinib in Patients With Anaplastic Lymphoma Kinase (ALK)-Positive or Rearranged During Transfection (RET)-Positive Cancer
- Cinacalcet to Treat Familial Primary Hyperparathyroidism
- Clinical Trial Evaluating the Safety, Tolerability and Preliminary Efficacy of BNT116 Alone and in Combinations in Patients With Advanced Non-small Cell Lung Cancer
- Drug Sensitivity Detection of Micro Tumor (PTC) to Guide Postoperative Adjuvant Treatment Strategy of Colorectal Cancer
- Familial Investigations of Childhood Cancer Predisposition
- Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
- Phase 1/2 Study of the Highly-selective RET Inhibitor, Pralsetinib (BLU-667), in Participants With Thyroid Cancer, Non-Small Cell Lung Cancer, and Other Advanced Solid Tumors
- Prospective Study on Resistance-associated Mutations in Metastatic Lung Cancer
- PTC-Guided Atorvastatin Plus Axitinib and Toripalimab in Advanced RCC
- Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
- Safety, Efficacy, and Tolerability of BOS172738 in Patients With Advanced Rearranged During Transfection (RET) Gene-Altered Tumors
- Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer
- Study of Molecular Pathways in Medullary Thyroid Carcinoma and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients
- The Role of Trop2 in Radioactive Iodine-131 Therapy Sensitivity in Papillary Thyroid Carcinoma
- Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer
- Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor