Middle ear neuroendocrine tumor
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Middle ear neuroendocrine tumor | |
| fr | Tumeur neuroendocrine de l'oreille moyenne | |
| de | Tumor, neuroendokriner, des Mittelohrs | |
| es | Tumor neuroendocrino del oído medio | |
| it | Tumore neuroendocrino dell'orecchio medio | |
| nl | Neuro-endocriene tumor van middenoor | |
| pt | Tumor endócrino do ouvido médio | |
| pl | Guz neuroendokrynny ucha środkowego | |
| cs | Endokrinní nádor středouší | |
| uk | Нейроендокринна пухлина середнього вуха | |
| zh | 中耳神经内分泌肿瘤 | |
| tr | Orta kulak nöroendokrin tümörü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C30.1 | NTBT | attributed | validated |
| ICD-11 | 2F00.0 | E | specific | validated |
| MONDO | 0015071 | E | validated | |
| UMLS | C4305468 | E | validated | |
| GARD | 19759 | 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:100101Neuroendocrine tumor with other location
rare endocrine diseases; rare neoplastic diseases - ORPHA:98061Rare otorhinolaryngologic tumor
rare otorhinolaryngological diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
11 annotations · validated 2016-08-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100570 | Carcinoid tumor | |
| HP:0100634 | Neuroendocrine neoplasm | |
| Very frequent (99-80%) | ||
| HP:0040119 | Unilateral conductive hearing impairment | |
| Frequent (79-30%) | ||
| HP:0040090 | Abnormality of the tympanic membrane | |
| Occasional (29-5%) | ||
| HP:0000372 | Abnormality of the auditory canal | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000360 | Tinnitus | |
| Very rare (<4-1%) | ||
| HP:0002028 | Chronic diarrhea | |
| HP:0010628 | Facial palsy | |
| HP:0002315 | Headache | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23401045[PMID]_16618645[PMID]_20345079[PMID]_16148713[PMID]_18358680[PMID]_6243385[PMID]_15635584[PMID]_3585164[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100084
- This record as JSON: /data/d/100084.json