Multiple endocrine neoplasia type 2B
Synonyms: MEN2B · Multiple endocrine neoplasia type 3 · Wagenmann-Froboese syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple endocrine neoplasia type 2B | MEN2B · Multiple endocrine neoplasia type 3 · Wagenmann-Froboese syndrome |
| fr | Néoplasie endocrinienne multiple type 2B | MEN2B · NEM2B · Néoplasie endocrinienne multiple type 3 · Syndrome de Wagenmann-Froboese |
| de | Multiple endokrine Neoplasie Typ 2B | MEN2B · Multiple endokrine Neoplasie Typ 3 · Wagenmann-Froboese-Syndrom |
| es | Neoplasia endocrina múltiple tipo 2B | MEN2B · NEM2B · Neoplasia endocrina múltiple tipo 3 · Síndrome de Wagenmann-Froboese |
| it | Neoplasia endocrina multipla, tipo 2B | MEN2B · Neoplasia endocrina multipla, tipo 3 · Sindrome di Wagenmann-Froboese |
| nl | Multipele endocriene neoplasie type 2B | MEN2B · Meervoudige endocriene neoplasie type 2B · Multipele endocriene neoplasie type 3 · Syndroom van Wagenmann-Froboese |
| pt | Neoplasia endócrina múltipla, tipo 2B | |
| pl | Zespół gruczolakowatości wewnątrzwydzielniczej typu 2B | MEN2B · Zespół gruczolakowatości wewnątrzwydzielniczej typu 3 · Zespół Wagenmanna i Froboese'a |
| cs | Mnohočetná endokrinní neoplázie, typ 2B | MEN-2B · Mnohočetná endokrinní neoplázie, typ 3 · Wagenmannův-Froboeseův syndrom · Wagenmann-Froboeseův syndrom |
| uk | Множинна ендокринна неоплазія, тип 2B | MEN2B · Множинні ендокринні неоплазії типу 3 · Синдром Вагенмана-Фробеса |
| zh | 多发性内分泌肿瘤2B型 | 多发性内分泌肿瘤3型 |
| tr | Çoklu endokrin neoplazi tip 2B | MEN2B · Wagenmann-Froboese sendromu · Çoklu endokrin neoplazi tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162300 | E | validated | |
| ICD-10 | D44.8 | NTBT | attributed | validated |
| ICD-11 | 2F7A.0 | NTBT | index | validated |
| MONDO | 0008082 | E | validated | |
| MeSH | D018814 | E | validated | |
| UMLS | C0025269 | E | validated | |
| GARD | 10225 | E | validated | |
| MedDRA | 10056420 | 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 (2):
- ORPHA:100091Adrenal/paraganglial tumor
rare endocrine diseases; rare neoplastic diseases - ORPHA:653Multiple endocrine neoplasia type 2
rare gastroenterological diseases; 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 |
|---|---|---|---|---|---|---|---|---|
| RET | Disease-causing germline mutation(s) in | Assessed | HGNC:9967 | ENSG00000165731 | 164761 | 10q11.21 | ret proto-oncogene | 20833330[PMID]_20301434[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247709
- This record as JSON: /data/d/247709.json