DiseaseID 26149
家族性甲状腺髓样癌
Thyroid Carcinoma, Familial Medullary
NCI2016_02D:Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.|MSH2017_2016_08_12:A f
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Disease: 1Herb: 3Symptom: 1Target: 18Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26149
- Core Entity Id
- 118717
- Source Entity Count
- 1
- Preferred Name
- Thyroid Carcinoma, Familial Medullary
- Name Cn
- 家族性甲状腺髓样癌
- Name Pinyin
- Jia Zu Xing Jia Zhuang Xian Sui Yang Ai
- Name En
- Thyroid Carcinoma, Familial Medullary
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.|MSH2017_2016_08_12:A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Thyroid Carcinoma, Familial Medullary
Role
preferred
Name
Multiple Endocrine Neoplasia, Type Iia
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0025268C1833921
Sym Map
SMDE02147SMDE05203
Etcm Disease
Multiple Endocrine Neoplasia, Type Iia
Itcmdb Generated
ITX-DISEASE-CB0DE23C27F9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Multiple Endocrine Neoplasia, Type Iia Details page
Basic Information
Disease Name
Multiple Endocrine Neoplasia, Type Iia
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases;Gastrointestinal Diseases;Neuronal diseases
Disease Definition
NCI2016_02D:Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.|MSH2017_2016_08_12:A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.NCI2016_NCI-GLOSS_1602D:An inherited form of medullary thyroid cancer (cancer that forms in the cells of the thyroid that make the hormone calcitonin).|NCI2016_02D:A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b).