Multiple endocrine neoplasia, type iib

Preferred Label : Multiple endocrine neoplasia, type iib;

Symbol : MEN2B;

CISMeF acronym : MEN IIB; MEN2B; MEN3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple endocrine neoplasia, type III; Neuromata, mucosal, with endocrine tumors; Wagenmann-froboese syndrome; Men iib; MEN3;

Included titles and symbols : Mucosal neuroma syndrome;

Description : Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996). For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (131100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RET protooncogene (RET, 164761.0013);

Neoplasia : Ganglioneuroma; Pheochromocytoma; Medullary thyroid carcinoma; Parathyroid disease rare;

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

Prefixed ID : #162300;

Details

Origin ID

162300;

UMLS CUI

C0025269;

Automatic exact mappings (from CISMeF team)
- Multiple endocrine neoplasia Type IIB [MedDRA LLT]
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- Multiple endocrine neoplasia type III [PASCAL descriptor]
- Oncogene RET [NCIt concept]
- RET wt Allele [NCIt concept]
- symbol withdrawn MEN2B [HGNC gene]
Broader ORDO disease(s)
- Multiple endocrine neoplasia type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- Multiple Endocrine Neoplasia Type 2B [NCIt concept]
- Multiple endocrine adenomatosis Type IIb [MedDRA LLT]
- Multiple endocrine neoplasia Type 2B [MedDRA Preferred Term]
- Multiple endocrine neoplasia type 2B [ICD-11 More detail]
- Multiple endocrine neoplasia type 2B [ORDO Disease]
- Multiple endocrine neoplasia type III [MedDRA LLT]
- Multiple endocrine neoplasia, type 3 (disorder) [SNOMED CT concept]
- multiple endocrine neoplasia type 2B [DO Concept]
- multiple endocrine neoplasia type 2b [Disease (Nov.)]
- multiple endocrine neoplasia type 2b [MeSH Descriptor]
- multiple endocrine neoplasia type 2b [MeSH concept]
DO Cross reference
- multiple endocrine neoplasia type 2B [DO Concept]
Genes related to phenotype
- Ret protooncogene [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Aganglionic megacolon [HPO term]
- Autosomal dominant inheritance [HPO term]
- Colonic diverticula [HPO term]
- Constipation [HPO term]
- Diarrhea [HPO term]
- Disproportionate tall stature [HPO term]
- Elevated calcitonin [HPO term]
- Elevated urinary epinephrine [HPO term]
- Failure to thrive in infancy [HPO term]
- Flushing [HPO term]
- Full lips [HPO term]
- Ganglioneuroma [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hyperlordosis [HPO term]
- Hypotonia [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Lordosis [HPO term]
- Medullary thyroid carcinoma [HPO term]
- Myopathy [HPO term]
- Nodular goiter [HPO term]
- Parathyroid hyperplasia [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Pheochromocytoma [HPO term]
- Proximal femoral epiphysiolysis [HPO term]
- Scoliosis [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
ORDO concept(s)
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- Multiple endocrine neoplasia type 2B [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple Endocrine Neoplasia Type 2B [NCIt concept]
- Multiple endocrine adenomatosis Type IIb [MedDRA LLT]
- Multiple endocrine neoplasia Type 2B [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type IIB [MedDRA LLT]
- Multiple endocrine neoplasia [MEN] type IIB [ICD-9 code]
- Multiple endocrine neoplasia type 2B [ORDO Disease]
- Multiple endocrine neoplasia type 2B [ICD-11 More detail]
- Multiple endocrine neoplasia type III [MedDRA LLT]
- Multiple endocrine neoplasia, type 3 (disorder) [SNOMED CT concept]
- multiple endocrine neoplasia type 2B [DO Concept]
- multiple endocrine neoplasia type 2b [MeSH Descriptor]
- multiple endocrine neoplasia type 2b [MeSH concept]
- multiple endocrine neoplasia type 2b [Disease (Nov.)]
- multiple endocrine neoplasia, type 3 [SNOMED Notion]

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