Multiple endocrine neoplasia type 2A

General Information (adopted from Orphanet):

Synonyms, Signs: PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA
SIPPLE SYNDROME THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
MEN2A
ptc syndrome
Sipple syndrome
Number of Symptoms 14
OrphanetNr: 247698
OMIM Id: 171400
ICD-10: D44.8
UMLs: C0025268
MeSH: D018813
MedDRA:
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:0002666) Pheochromocytoma 9 / 7739
3
(HPO:0002251) Aganglionic megacolon 78 / 7739
4
(HPO:0000843) Hyperparathyroidism 17 / 7739
5
(HPO:0001578) Hypercortisolism 17 / 7739
6
(HPO:0002865) Medullary thyroid carcinoma 4 / 7739
7
(HPO:0002897) Parathyroid adenoma 5 / 7739
8
(HPO:0001574) Abnormality of the integument 4 / 7739
9
(HPO:0000822) Hypertension 224 / 7739
10
(HPO:0003528) Elevated calcitonin 2 / 7739
11
(OMIM) Pentagastrin stimulation test 2 / 7739
12
(OMIM) C-cell hyperplasia 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Cutaneous lichen amyloidosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Diagnosis OMIM In the Netherlands, Vasen et al. (1987) demonstrated the usefulness of screening and a central registry for the long-term follow-up of cases. In an 18-year study of a large kindred, Gagel et al. (1988) found that prospective screening ...
Clinical Description OMIM Schimke and Hartmann (1965) described a syndrome of pheochromocytoma and medullary thyroid carcinoma with abundant amyloid stroma. A similar but distinct condition is described under neuromata, mucosal, with endocrine tumors (MEN2B; 162300). Steiner et al. (1968) described a ...
Molecular genetics OMIM Mathew et al. (1987) found deletion of a hypervariable region of DNA on 1p in 7 of 14 tumors (pheochromocytomas and medullary carcinomas) developing in patients with MEN2. In 1 of 2 families examined, the deleted chromosome was ...