ORPHA:652
Multiple endocrine neoplasia type 1
Synonyms: MEN1 · Wermer syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple endocrine neoplasia type 1 | MEN1 · Wermer syndrome |
| fr | Néoplasie endocrinienne multiple type 1 | NEM1 · Syndrome de Wermer |
| de | Neoplasie, endokrine multiple, Typ 1 | MEN 1 · Wermer-Syndrom |
| es | Neoplasia endocrina múltiple tipo 1 | |
| it | Neoplasia endocrina multipla tipo 1 | MEN 1 · Sindrome di Wermer |
| nl | Multipele endocriene neoplasie type 1 | MEN1 · Syndroom van Wermer |
| pt | Neoplasias endócrinas múltiplas tipo 1 | MEN 1 · Síndrome Wermer |
| pl | Zespół mnogiej gruczolakowatości wewnątrzwydzielniczej typu 1 | MEN 1 · Zespół Wermera |
| cs | Syndrom mnohočetné endokrinní neoplázie, typ 1 | MEN1 · Wermerův syndrom |
| uk | Множинні ендокринні неоплазії, тип 1 | MEN1 · Синдром Вермера |
| zh | 多发性内分泌瘤病1型 | Wermer综合征 |
| tr | Çoklu endokrin neoplazi tip-I | MEN1 · Wermer sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131100 | E | validated | |
| ICD-10 | D44.8 | NTBT | attributed | validated |
| ICD-11 | 2F7A.0 | NTBT | index | validated |
| MONDO | 0007540 | E | validated | |
| MeSH | D018761 | E | validated | |
| UMLS | C0025267 | E | validated | |
| GARD | 3829 | E | validated | |
| MedDRA | 10073150 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:100091Adrenal/paraganglial tumor
rare endocrine diseases; rare neoplastic diseases - ORPHA:2207Familial primary hyperparathyroidism
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases - ORPHA:425003Inherited digestive cancer-predisposing syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases - ORPHA:276161Multiple endocrine neoplasia
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases - ORPHA:314749Rare disease with adrenal Cushing syndrome as a major feature
rare endocrine diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKN1B | Candidate gene tested in | Not yet assessed | HGNC:1785 | ENSG00000111276 | 600778 | 12p13.1 | cyclin dependent kinase inhibitor 1B | 22026581[PMID]_25824098[PMID] |
| CDKN2B | Candidate gene tested in | Not yet assessed | HGNC:1788 | ENSG00000147883 | 600431 | 9p21.3 | cyclin dependent kinase inhibitor 2B | 19141585[PMID] |
| MEN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7010 | ENSG00000133895 | 613733 | 11q13.1 | menin 1 | 20301710[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.3 / 100 000 | Europe | Value and class | Validated | 20301710[PMID]_17014705[PMID]_ [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
74 annotations · validated 2020-03-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010615 | Angiofibromas | |
| HP:0003072 | Hypercalcemia | |
| HP:0031058 | Impairment of activities of daily living | |
| HP:0008208 | Parathyroid hyperplasia | |
| HP:0008200 | Primary hyperparathyroidism | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000849 | Adrenocortical abnormality | |
| HP:0040306 | Decreased male libido | |
| HP:0002014 | Diarrhea | |
| HP:0100829 | Galactorrhea | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002150 | Hypercalciuria | |
| HP:0500167 | Hypergastrinemia | |
| HP:0000802 | Impotence | |
| HP:0005605 | Large cafe-au-lait macules with irregular margins | |
| HP:0001012 | Multiple lipomas | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0004398 | Peptic ulcer | |
| HP:0002893 | Pituitary adenoma | |
| HP:0006767 | Pituitary prolactin cell adenoma | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001824 | Weight loss | |
| HP:0002044 | Zollinger-Ellison syndrome | |
| Occasional (29-5%) | ||
| HP:0040085 | Abnormal circulating aldosterone | |
| HP:0006744 | Adrenocortical carcinoma | |
| HP:0000141 | Amenorrhea | |
| HP:0002039 | Anorexia | |
| HP:0100570 | Carcinoid tumor | |
| HP:0007449 | Confetti-like hypopigmented macules | |
| HP:0001289 | Confusion | |
| HP:0002019 | Constipation | |
| HP:0001293 | Cranial nerve compression | |
| HP:0032044 | Decreased vigilance | |
| HP:0001944 | Dehydration | |
| HP:0000716 | Depression | |
| HP:0002588 | Duodenal ulcer | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0000853 | Goiter | |
| HP:0002315 | Headache | |
| HP:0002248 | Hematemesis | |
| HP:0000822 | Hypertension | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0012197 | Insulinoma | |
| HP:0006723 | Intestinal carcinoid | |
| HP:0001254 | Lethargy | |
| HP:0002249 | Melena | |
| HP:0002858 | Meningioma | |
| HP:0002018 | Nausea | |
| HP:0000787 | Nephrolithiasis | |
| HP:0002797 | Osteolysis | |
| HP:0030405 | Pancreatic endocrine tumor | |
| HP:0011760 | Pituitary growth hormone cell adenoma | |
| HP:0001579 | Primary hypercortisolism | |
| HP:0011407 | Proportionate tall stature | |
| HP:0000736 | Short attention span | |
| HP:0012232 | Shortened QT interval | |
| HP:0002890 | Thyroid carcinoma | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001259 | Coma | |
| HP:0003528 | Elevated calcitonin | |
| HP:0002888 | Ependymoma | |
| HP:0030404 | Glucagonoma | |
| HP:0003144 | Increased serum serotonin | |
| HP:0011151 | Obtundation status | |
| HP:0006780 | Parathyroid carcinoma | |
| HP:0002666 | Pheochromocytoma | |
| HP:0008291 | Pituitary corticotropic cell adenoma | |
| HP:0011759 | Pituitary gonadotropic cell adenoma | |
| HP:0011761 | Pituitary null cell adenoma | |
| HP:0011762 | Pituitary thyrotropic cell adenoma | |
| HP:0030445 | Pulmonary carcinoid tumor | |
| HP:0100522 | Thymoma | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301710[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/652
- This record as JSON: /data/d/652.json