MEN2A
MCID: MLT160
MIFTS: 68
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Multiple Endocrine Neoplasia, Type Iia (MEN2A)
Categories:
Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type Iia:
Name: Multiple Endocrine Neoplasia, Type Iia
57
Characteristics:Inheritance:
Multiple Endocrine Neoplasia, Type Iia:
Autosomal dominant 57
Multiple Endocrine Neoplasia Type 2:
Autosomal dominant 58
Multiple Endocrine Neoplasia Type 2a:
Autosomal dominant 58
Prevelance:
Multiple Endocrine Neoplasia Type 2:
1-9/100000 (Europe, Germany) 58
Age Of Onset:
Multiple Endocrine Neoplasia Type 2:
Adolescent,Adult,Childhood,Infancy 58
Multiple Endocrine Neoplasia Type 2a:
Childhood 58
GeneReviews:24
Penetrance The penetrance for mtc, pheochromocytoma, and parathyroid disease varies by men2 phenotype (see table 2).
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Gastrointestinal diseases Endocrine diseases Neuronal diseases
ICD10:
32
Orphanet: 58
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GARD: 19 Multiple endocrine neoplasia type 2 (MEN2) is an inherited disorder in which one or more of the endocrine glands are overactive or form a tumor. Endocrine glands most commonly involved include: Adrenal (about half the time) Parathyroid (20% of the time) Thyroid (almost all of the time) MEN2 is caused by a defect in the RET gene. This defect causes many tumors to appear in the same person, but not necessarily at the same time. The adrenal tumor is called a pheochromocytoma, and the thyroid tumor is a medullary carcinoma of the thyroid. The condition is usually inherited in an autosomal dominant pattern. The features of this disorder are relatively consistent within any one family. MalaCards based summary: Multiple Endocrine Neoplasia, Type Iia, also known as multiple endocrine neoplasia type 2a, is related to adrenal carcinoma and thyroid carcinoma, familial medullary. An important gene associated with Multiple Endocrine Neoplasia, Type Iia is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signal Transduction and Neuroscience. The drugs Sorafenib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and colon, and related phenotypes are medullary thyroid carcinoma and hyperhidrosis Orphanet 58 Multiple endocrine neoplasia type 2a: A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone. Multiple endocrine neoplasia type 2: A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism. OMIM®: 57 Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (162300), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001). For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (131100). (171400) (Updated 08-Dec-2022) Disease Ontology: 11 A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. UniProtKB/Swiss-Prot: 73 The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism. Wikipedia: 75 Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma and amyloid producing medullary... more...
GeneReviews:
NBK1257
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Human phenotypes related to Multiple Endocrine Neoplasia, Type Iia:58 30 (show top 50) (show all 54)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:171400 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Multiple Endocrine Neoplasia, Type Iia according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia, Type Iia:45 (show all 16)
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Drugs for Multiple Endocrine Neoplasia, Type Iia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: multiple endocrine neoplasia type 2a |
Organs/tissues related to Multiple Endocrine Neoplasia, Type Iia:
MalaCards :
Thyroid,
Tongue,
Colon,
Lung,
Liver,
Pituitary,
Adrenal Gland
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Articles related to Multiple Endocrine Neoplasia, Type Iia:(show top 50) (show all 2286)
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ClinVar genetic disease variations for Multiple Endocrine Neoplasia, Type Iia:5 (show top 50) (show all 1941)
UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia, Type Iia:73 (show all 28)
Cosmic variations for Multiple Endocrine Neoplasia, Type Iia:8 (show top 50) (show all 113)
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Search
GEO
for disease gene expression data for Multiple Endocrine Neoplasia, Type Iia.
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Pathways related to Multiple Endocrine Neoplasia, Type Iia according to GeneCards Suite gene sharing:(show all 12)
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Cellular components related to Multiple Endocrine Neoplasia, Type Iia according to GeneCards Suite gene sharing:
Biological processes related to Multiple Endocrine Neoplasia, Type Iia according to GeneCards Suite gene sharing:
Molecular functions related to Multiple Endocrine Neoplasia, Type Iia according to GeneCards Suite gene sharing:
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