Multiple endocrine neoplasia, type iia

Preferred Label : Multiple endocrine neoplasia, type iia;

Symbol : MEN2A;

CISMeF acronym : MEN2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pheochromocytoma and amyloid-producing medullary thyroid carcinoma; Ptc syndrome; Sipple syndrome;

Included titles and symbols : Thyroid carcinoma, familial medullary;

Description : Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenomas. For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (131100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the RET protoncogene (RET, 1645761.0001);

Neoplasia : Pheochromocytoma; Medullary thyroid carcinoma; Parathyroid adenoma;

Laboratory abnormalities : Increased urinary epinephrine; Elevated calcitonin; Pentagastrin stimulation test;

Prefixed ID : #171400;

Details

Origin ID

171400;

UMLS CUI

C0025268;

Automatic exact mappings (from CISMeF team)
- Familial medullary thyroid carcinoma [ORDO Disease]
- Multiple endocrine neoplasia type 2 [ICD-11 More detail]
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- Multiple endocrine neoplasia type 2A [ICD-11 More detail]
- Multiple endocrine neoplasia, type 2 (disorder) [SNOMED CT concept]
- Oncogene RET [NCIt concept]
- RET wt Allele [NCIt concept]
- familial medullary thyroid carcinoma [MeSH concept]
- familial medullary thyroid carcinoma [DO Concept]
- familial medullary thyroid carcinoma [MeSH Supplementary Concept]
- symbol withdrawn MEN2A [HGNC gene]
Broader ORDO disease(s)
- Multiple endocrine neoplasia type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- Malignant multiple endocrine neoplasia type 2a (disorder) [SNOMED CT concept]
- Multiple Endocrine Neoplasia Type 2A [NCIt concept]
- Multiple endocrine adenomatosis Type IIa [MedDRA LLT]
- Multiple endocrine neoplasia Type 2A [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type IIA [MedDRA LLT]
- Multiple endocrine neoplasia type 2A [ORDO Disease]
- Multiple endocrine neoplasia type 2A (disorder) [SNOMED CT concept]
- multiple endocrine neoplasia type 2A [DO Concept]
- multiple endocrine neoplasia type 2a [Disease (Nov.)]
- multiple endocrine neoplasia type 2a [MeSH Descriptor]
- multiple endocrine neoplasia type 2a [MeSH concept]
DO Cross reference
- multiple endocrine neoplasia type 2A [DO Concept]
Genes related to phenotype
- Ret protooncogene [OMIM gene]
HPO term(s)
- Abnormality of the integument [HPO term]
- Aganglionic megacolon [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chest pain [HPO term]
- Cushing syndrome [HPO term]
- Cutaneous lichen amyloidosis [HPO term]
- Elevated calcitonin [HPO term]
- Elevated urinary dopamine [HPO term]
- Elevated urinary epinephrine [HPO term]
- Elevated urinary norepinephrine [HPO term]
- Elevated urinary vanillylmandelic acid [HPO term]
- Headache [HPO term]
- Hyperparathyroidism [HPO term]
- Hypertension [HPO term]
- Increased circulating cortisol level [HPO term]
- Medullary thyroid carcinoma [HPO term]
- Palpitations [HPO term]
- Parathyroid adenoma [HPO term]
- Pheochromocytoma [HPO term]
- Thyroid C cell hyperplasia [HPO term]
ORDO concept(s)
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- Multiple endocrine neoplasia type 2A [ORDO Disease]
See also inter- (CISMeF)
- familial medullary thyroid carcinoma [Disease (Nov.)]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple Endocrine Neoplasia Type 2A [NCIt concept]
- Multiple endocrine adenomatosis Type IIa [MedDRA LLT]
- Multiple endocrine neoplasia Type 2A [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type IIA [MedDRA LLT]
- Multiple endocrine neoplasia [MEN] type IIA [ICD-9 code]
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- Multiple endocrine neoplasia type 2A [ORDO Disease]
- Multiple endocrine neoplasia type 2A (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type 2 (disorder) [SNOMED CT concept]
- multiple endocrine neoplasia type 2A [DO Concept]
- multiple endocrine neoplasia type 2a [MeSH Descriptor]
- multiple endocrine neoplasia type 2a [MeSH concept]
- multiple endocrine neoplasia, type 2 [SNOMED Notion]
Validated automatic mappings to NTBT
- multiple endocrine neoplasia type 2 [Disease (Nov.)]

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