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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple endocrine neoplasia type 2A
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Accession:DOID:0050430 term browser browse the term
Definition: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.
Synonyms:exact_synonym: FMTC AND UNCLASSIFIED;   MEA 2A;   MEA IIa;   MEN 2A syndrome;   MEN 2a;   MEN IIa;   MEN-2A Syndromes;   MEN2a;   Multiple Endocrine Neoplasia, Type IIa;   Multiple Endocrine Neoplasms Type 2a;   PTC syndrome;   Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma;   Sipple syndrome
 narrow_synonym: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA;   Multiple Endocrine Neoplasia, Type IIA, With Hirschsprung Disease;   familial medullary thyroid carcinoma
 broad_synonym: MEA II;   MEN 2;   MEN II;   MEN2 Disease;   MEN2 Phenotype: Unclassified;   MEN2 Phenotype: Unknown;   Multiple Endocrine Neoplasia 2;   Multiple Endocrine Neoplasia Type 2;   multiple endocrine neoplasia II
 related_synonym: MEN2A and Unclassified
 primary_id: MESH:D018813
 alt_id: OMIM:171400
 xref: ICD10CM:E31.22;   ICD9CM:258.02;   NCI:C3226;   ORDO:247698
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multiple endocrine neoplasia type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:2324920
RGD:8554872
RGD:11554173
RGD:7240710
familial medullary thyroid carcinoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insrr insulin receptor-related receptor JBrowse link 2 187,161,817 187,181,400 RGD:8554872
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:8554872
G Prlr prolactin receptor JBrowse link 2 60,131,410 60,325,686 RGD:13592920
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Hereditary Neoplastic Syndromes 802
        multiple endocrine neoplasia 12
          multiple endocrine neoplasia type 2A 4
            familial medullary thyroid carcinoma 4
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                multiple endocrine neoplasia type 2A 4
                  familial medullary thyroid carcinoma 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.