Multiple endocrine neoplasia type 2B

General Information (adopted from Orphanet):

Synonyms, Signs: MEN IIB
MEN3, FORMERLY MUCOSAL NEUROMA SYNDROME, INCLUDED
MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY
NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS
MEN2B
wagenmann-froboese syndrome
Multiple endocrine neoplasia type 3
Number of Symptoms 42
OrphanetNr: 247709
OMIM Id: 162300
ICD-10: D44.8
UMLs: C0025269
MeSH: D018814
MedDRA: 10056420
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Catecholamine-producing tumor
 -Rare circulatory system disease
 -Rare endocrine disease
 -Rare genetic disease
 -Rare oncologic disease
 -Rare renal disease
Multiple endocrine neoplasia type 2
 -Rare endocrine disease
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003639) Elevated urinary epinephrine 2 / 7739
2
 (HPO:0012471) Thick vermilion border 115 / 7739
3
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0000574) Thick eyebrow 96 / 7739
6
 (HPO:0002251) Aganglionic megacolon 78 / 7739
7
 (HPO:0002666) Pheochromocytoma 9 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739
9
 (HPO:0003005) Ganglioneuroma 6 / 7739
10
 (HPO:0008208) Parathyroid hyperplasia 3 / 7739
11
 (HPO:0002865) Medullary thyroid carcinoma 4 / 7739
12
 (HPO:0005994) Nodular goiter 2 / 7739
13
 (HPO:0003307) Hyperlordosis 122 / 7739
14
 (HPO:0002650) Scoliosis 705 / 7739
15
 (HPO:0002808) Kyphosis 289 / 7739
16
 (HPO:0001761) Pes cavus 225 / 7739
17
 (HPO:0001388) Joint laxity 117 / 7739
18
 (HPO:0006461) Proximal femoral epiphysiolysis 5 / 7739
19
 (HPO:0000767) Pectus excavatum 244 / 7739
20
 (HPO:0002019) Constipation 194 / 7739
21
 (HPO:0002014) Diarrhea 225 / 7739
22
 (HPO:0002253) Colonic diverticula 12 / 7739
23
 (HPO:0001519) Disproportionate tall stature 39 / 7739
24
 (HPO:0001531) Failure to thrive in infancy 26 / 7739
25
 (HPO:0000951) Abnormality of the skin 147 / 7739
26
 (HPO:0003528) Elevated calcitonin 2 / 7739
27
 (HPO:0010547) Muscle flaccidity 466 / 7739
28
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
29
 (HPO:0003198) Myopathy 151 / 7739
30
 (HPO:0001252) Muscular hypotonia 990 / 7739
31
 (HPO:0001324) Muscle weakness 859 / 7739
32
 (OMIM) Pentagastrin stimulation test 2 / 7739
33
 (OMIM) Thickened, anteverted eyelid 1 / 7739
34
 (OMIM) Flushing attacks 1 / 7739
35
 (OMIM) Coarse-appearing facies 1 / 7739
36
 (OMIM) Eyelid and corneal neuromas 1 / 7739
37
 (OMIM) Parathyroid disease rare 1 / 7739
38
 (OMIM) Large, prominent eyebrow 1 / 7739
39
 (OMIM) Medullated corneal nerve fibers 1 / 7739
40
 (OMIM) Neuromas of lips and tongue 1 / 7739
41
 (OMIM) Pedunculated nodules on eyelid margins 1 / 7739
42
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Williams and Pollock (1966) described 2 unrelated patients with multiple true neuromas, pheochromocytoma and thyroid carcinoma. The thyroid cancer was of the medullary type (MTC) as in MEN2A. Although the association of pheochromocytoma with neurofibromatosis is well known, ...
Molecular genetics OMIM In 9 unrelated MEN2B patients, Hofstra et al. (1994) identified a substitution of a threonine for a methionine in the tyrosine kinase domain of the RET protein (M918T; 164761.0013). The M918T mutation in the tyrosine kinase domain is ...