Multiple endocrine neoplasia type 2
Synonyms: MEN2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple endocrine neoplasia type 2 | MEN2 |
| fr | Néoplasie endocrinienne multiple type 2 | MEN2 · NEM2 |
| de | Neoplasie, endokrine multiple, Typ 2 | = en |
| es | Neoplasia endocrina múltiple tipo 2 | = en |
| it | Neoplasia endocrina multipla tipo 2 | = en |
| nl | Multipele endocriene neoplasie type 2 | = en |
| pt | Neoplasias endócrinas múltiplas tipo 2 | MEN 2 · Síndrome Sipple |
| pl | Mnoga gruczolakowatość wewnątrzwydzielnicza typu 2 | = en |
| cs | Mnohočetná endokrinní neoplázie, typ 2 | = en |
| uk | Множинна ендокринна неоплазія, тип 2 | = en |
| zh | 多发性内分泌瘤病2型 | MEN2型 |
| tr | Çoklu endokrin neoplazi tip 2 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155240 | BTNT | validated | |
| OMIM | 162300 | BTNT | validated | |
| OMIM | 171400 | BTNT | validated | |
| ICD-10 | D44.8 | NTBT | attributed | validated |
| ICD-11 | 2F7A.0 | NTBT | index | validated |
| MONDO | 0019003 | E | validated | |
| UMLS | C4048306 | E | validated | |
| GARD | 3830 | E | validated | |
| MedDRA | 10073149 | 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 (3):
- 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:100088Rare thyroid carcinoma
rare endocrine diseases; rare neoplastic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| RET | ORPHA:247698Multiple endocrine neoplasia type 2A | Disease-causing germline mutation(s) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 20833330[PMID]_20301434[PMID] |
| RET | ORPHA:247709Multiple endocrine neoplasia type 2B | Disease-causing germline mutation(s) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 20833330[PMID]_20301434[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.9 / 100 000 | Europe | Value and class | Validated | ISBN:9283224167[OTHER]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1.25 / 100 000 | Germany | Value and class | Validated | 23211574[PMID] |
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
48 annotations · validated 2020-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002865 | Medullary thyroid carcinoma | |
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0032241 | Cervical neoplasm | |
| HP:0002014 | Diarrhea | |
| HP:0003528 | Elevated calcitonin | |
| HP:0011976 | Elevated urinary catecholamines | |
| HP:0003639 | Elevated urinary epinephrine | |
| HP:0003345 | Elevated urinary norepinephrine | |
| HP:0011978 | Elevated urinary vanillylmandelic acid | |
| HP:0002315 | Headache | |
| HP:0000975 | Hyperhidrosis | |
| HP:0002640 | Hypertension associated with pheochromocytoma | |
| HP:0100735 | Hypertensive crisis | |
| HP:0000980 | Pallor | |
| HP:0001962 | Palpitations | |
| HP:0008208 | Parathyroid hyperplasia | |
| HP:0002666 | Pheochromocytoma | |
| HP:0011781 | Thyroid C cell hyperplasia | |
| HP:0025388 | Thyroid nodule | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0030809 | Abnormal tongue morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0025289 | Cervical lymphadenopathy | |
| HP:0002019 | Constipation | |
| HP:0032346 | Cutaneous lichen amyloidosis | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0025151 | Ganglioneuromatosis | |
| HP:0003072 | Hypercalcemia | |
| HP:0002150 | Hypercalciuria | |
| HP:0003307 | Hyperlordosis | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0031023 | Multiple mucosal neuromas | |
| HP:0001324 | Muscle weakness | |
| HP:0030833 | Neck pain | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0010622 | Neoplasm of the skeletal system | |
| HP:0000787 | Nephrolithiasis | |
| HP:0030430 | Neuroma | |
| HP:0002864 | Paraganglioma of head and neck | |
| HP:0002897 | Parathyroid adenoma | |
| HP:0008200 | Primary hyperparathyroidism | |
| HP:0010726 | Prominent corneal nerve fibers | |
| HP:0012471 | Thick vermilion border | |
| Very rare (<4-1%) | ||
| HP:0001382 | Joint hypermobility | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301434[PMID]_24889858[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/653
- This record as JSON: /data/d/653.json