Multiple endocrine neoplasia type 4

General Information (adopted from Orphanet):

Synonyms, Signs: MEN4
Number of Symptoms 6
OrphanetNr: 276152
OMIM Id: 610755
ICD-10: D44.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple polyglandular tumor
 -Rare endocrine disease
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0006772) Renal angiomyolipoma 4 / 7739
2
(HPO:0100570) Carcinoid tumor 2 / 7739
3
(HPO:0002897) Parathyroid adenoma 5 / 7739
4
(HPO:0002893) Pituitary adenoma 16 / 7739
5
(HPO:0000845) Growth hormone excess 18 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pellegata et al. (2006) reported a 3-generation family with what appeared to be MEN1-related tumors. The proband was a 48-year-old Caucasian female who developed acromegaly and had a 3-cm pituitary tumor removed at age 30. Histology revealed an ...
Molecular genetics OMIM In a 48-year-old Caucasian female with primary hyperparathyroidism and a history of pituitary adenoma (MEN4), Pellegata et al. (2006) identified a nonsense mutation in the CDKN1B gene (600778.0001). The mutation was also identified in her older sister who ...