loading...| Preferred Name |
Multiple Endocrine Neoplasia Type 2a |
| Synonyms |
MEN-2A Syndrome |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D018813 |
| altLabel |
MEN-2A Syndrome MEA IIa Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma MEN-2A Syndromes MEN II Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia, Type IIa Multiple Endocrine Neoplasia Type 2 MEN 2 MEA II Neoplasia, Multiple Endocrine Type 2a Sipple Syndrome MEN IIa Neoplasms, Multiple Endocrine Type 2a MEA 2a MEN 2a MEN 2A Syndrome MEN2a Multiple Endocrine Neoplasms Type 2a |
| AN |
coordinate IM with specific endocrine/neoplasm pre-coordinates (IM) + specific histological type (IM) if pertinent |
| AQL |
BL BS CF CH CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SC SU TH UL UR VE VI |
| cui |
C0025268 |
| DC |
1 |
| 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. |
| DX |
19950101 |
| HN |
95; MEA II, MEN II, & SIPPLE SYNDROME were see NEOPLASMS, MULTIPLE ENDOCRINE 1983-94 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000556 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000098 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB | |
| Machine permutation |
95; MEA II, MEN II, & SIPPLE SYNDROME were see NEOPLASMS, MULTIPLE ENDOCRINE 1983-94 |
| Mapped from | |
| MDA |
19940523 |
| MMR |
20120703 |
| MN |
C19.344.400.505 C16.320.700.630.505 C04.651.600.505 C04.700.630.505 C04.588.322.400.505 |
| notation |
D018813 |
| OL |
use MULTIPLE ENDOCRINE NEOPLASIA to search MEA II, MEN II, & SIPPLE SYNDROME 1983-94 |
| prefLabel |
Multiple Endocrine Neoplasia Type 2a |
| TERMUI |
T056058 T056063 T767839 T056061 T056053 T056057 T056062 T056059 T825067 T811745 T056060 T056064 T056052 T603140 T056055 T056056 T056054 |
| TH |
NLM (2006) NLM (2011) ORD (2010) NLM (1995) OMIM (2013) |
| tui |
T191 |
| subClassOf |