Multiple endocrine neoplasia type 2A
Synonyms: MEN2A · PTC syndrome · Sipple syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple endocrine neoplasia type 2A | MEN2A · PTC syndrome · Sipple syndrome |
| fr | Néoplasie endocrinienne multiple type 2A | MEN2A · Syndrome PTC · Syndrome de Sipple |
| de | Multiple endokrine Neoplasie Typ 2A | MEN2A · PTC-Syndrom · Sipple-Syndrom |
| es | Neoplasia endocrina múltiple tipo 2A | MEN2A · NEM2A · Síndrome PTC · Síndrome de Sipple |
| it | Neoplasia endocrina multipla, tipo 2A | MEN2A · Sindrome PTC · Sindrome di Sipple |
| nl | Multipele endocriene neoplasie type 2A | MEN2A · PTC-syndroom · Syndroom van Sipple |
| pt | Neoplasia endócrina múltipla, tipo 2A | |
| pl | Zespół gruczolakowatości wewnątrzwydzielniczej typu 2A | MEN2A · Zespół PTC · Zespół Sipple'a |
| cs | Mnohočetná endokrinní neoplázie, typ 2A | MEN-2A · PTC syndrom · Sippleův syndrom |
| uk | Множинна ендокринна неоплазія, тип 2А | MEN2A · Синдром PTC · Симптом Сіппла |
| zh | 多发性内分泌肿瘤2A型 | Sipple综合征 |
| tr | Çoklu endokrin neoplazi tip 2A | MEN2A · PTC sendromu · Sipple sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 171400 | E | validated | |
| ICD-10 | D44.8 | NTBT | attributed | validated |
| ICD-11 | 2F7A.0 | NTBT | index | validated |
| MONDO | 0008234 | E | validated | |
| MeSH | D018813 | E | validated | |
| UMLS | C0025268 | E | validated | |
| GARD | 4881 | E | validated | |
| MedDRA | 10073148 | 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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247698
- This record as JSON: /data/d/247698.json