Multiple endocrine neoplasia type 4
Synonyms: MEN4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple endocrine neoplasia type 4 | MEN4 |
| fr | Néoplasie endocrinienne multiple type 4 | MEN4 · NEM4 |
| de | Neoplasie, endokrine multiple, Typ 4 | = en |
| es | Neoplasia endocrina múltiple tipo 4 | |
| it | Neoplasia endrocina multipla tipo 4 | = en |
| nl | Multipele endocriene neoplasie type 4 | = en |
| pt | Neoplasia endócrina múltipla tipo 4 | |
| pl | Zespół mnogiej gruczolakowatości wewnątrzwydzielniczej typu 4 | = en |
| cs | Mnohočetná endokrinní neoplázie, typ 4 | = en |
| uk | Множинні ендокринні неоплазії, тип 4 | = en |
| zh | 多发性内分泌肿瘤4型 | = en |
| tr | Çoklu endokrin neoplazi tip 4 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610755 | E | validated | |
| ICD-10 | D44.8 | NTBT | attributed | validated |
| ICD-11 | 2F7A.0 | NTBT | index | validated |
| MONDO | 0012552 | E | validated | |
| MeSH | C567059 | E | validated | |
| UMLS | C1970712 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:276161Multiple endocrine neoplasia
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKN1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1785 | ENSG00000111276 | 600778 | 12p13.1 | cyclin dependent kinase inhibitor 1B | 25416039[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0003072 | Hypercalcemia | |
| HP:0000843 | Hyperparathyroidism | |
| HP:0002897 | Parathyroid adenoma | |
| HP:0008208 | Parathyroid hyperplasia | |
| Frequent (79-30%) | ||
| HP:0012091 | Abnormality of pancreas physiology | |
| HP:0008256 | Adrenocortical adenoma | |
| HP:0010615 | Angiofibromas | |
| HP:0002014 | Diarrhea | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0100633 | Esophagitis | |
| HP:0008283 | Fasting hyperinsulinemia | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0012197 | Insulinoma | |
| HP:0100634 | Neuroendocrine neoplasm | |
| HP:0004398 | Peptic ulcer | |
| HP:0002893 | Pituitary adenoma | |
| HP:0011760 | Pituitary growth hormone cell adenoma | |
| HP:0011761 | Pituitary null cell adenoma | |
| HP:0006767 | Pituitary prolactin cell adenoma | |
| HP:0030445 | Pulmonary carcinoid tumor | |
| HP:0006772 | Renal angiomyolipoma | |
| HP:0001031 | Subcutaneous lipoma | |
| HP:0000854 | Thyroid adenoma | |
| HP:0002044 | Zollinger-Ellison syndrome | |
| Occasional (29-5%) | ||
| HP:0100570 | Carcinoid tumor | |
| HP:0030079 | Cervix cancer | |
| HP:0007449 | Confetti-like hypopigmented macules | |
| HP:0010783 | Erythema | |
| HP:0012334 | Extrahepatic cholestasis | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0030688 | Increased glucagon level | |
| HP:0012030 | Increased urinary cortisol level | |
| HP:0006780 | Parathyroid carcinoma | |
| HP:0008291 | Pituitary corticotropic cell adenoma | |
| HP:0010788 | Testicular neoplasm | |
| Very rare (<4-1%) | ||
| HP:0100522 | Thymoma | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 17030811[PMID]_24819502[PMID]_22129891[PMID]_20824794[PMID]_17519308[PMID]_20980721[PMID]_17014705[PMID]_23645327[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276152
- This record as JSON: /data/d/276152.json