Details of Disease

General Information of Disease (ID: DISF4HDF)

Disease Name Multiple endocrine neoplasia type 4
Synonyms
multiple endocrine neoplasia, type 4; multiple endocrine neoplasia type 4; multiple endocrine neoplasia, type IV; CDKN1B multiple endocrine neoplasia; multiple endocrine neoplasia caused by mutation in CDKN1B; MEN4
Definition
Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.
Disease Hierarchy
DIS3HIWD: Autosomal dominant disease
DISZGBKW: Multiple endocrine neoplasia
DISF4HDF: Multiple endocrine neoplasia type 4
Disease Identifiers
MONDO ID
MONDO_0012552
MESH ID
C567059
UMLS CUI
C1970712
OMIM ID
610755
MedGen ID
373469
Orphanet ID
276152
SNOMED CT ID
715907003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RET TT4DXQT Strong Genetic Variation [1]
CDKN1B TTLGFVW Definitive Autosomal dominant [2]
CDKN1B TTLGFVW Definitive Genetic Variation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDKN1B OTNY5LLZ Definitive Autosomal dominant [2]
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References

1 RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.Cancer Res. 2005 Mar 1;65(5):1729-37. doi: 10.1158/0008-5472.CAN-04-2363.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Somatic and germline mutations in the pathogenesis of pituitary adenomas.Eur J Endocrinol. 2019 Dec;181(6):R235-R254. doi: 10.1530/EJE-19-0602.