Papillary tumor of the pineal region
Synonyms: PTPR
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Papillary tumor of the pineal region | PTPR |
| fr | Tumeur papillaire de la région pinéale | = en |
| de | Papillärer Tumor der Pinealisregion | = en |
| es | Tumor papilar de la región pineal | TPRP |
| it | Tumore papillare della regione pineale | |
| nl | Papillaire tumor van pinealisregio | = en |
| pt | Tumor papilar da região pineal | |
| pl | Guz brodawkowaty okolicy szyszynki | = en |
| cs | Papilární nádor pineální oblasti | = en |
| uk | Папілярна пухлина шишкоподібної залози | = en |
| zh | 松果体乳头状瘤 | = en |
| tr | Pineal bölgenin papiller tümörü | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D44.5 | NTBT | attributed | validated |
| ICD-11 | 2A00.20 | NTBT | index | validated |
| ICD-11 | XH3904 | E | specific | validated |
| MONDO | 0016724 | E | validated | |
| UMLS | C2985219 | 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 (1):
- ORPHA:251905Pineal tumor of neuroepithelial tissue
rare neurological 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
14 annotations · validated 2017-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000651 | Diplopia | |
| HP:0002315 | Headache | |
| HP:0000238 | Hydrocephalus | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0002354 | Memory impairment | |
| HP:0002017 | Nausea and vomiting | |
| Frequent (79-30%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0030531 | Altitudinal visual field defect | |
| HP:0100543 | Cognitive impairment | |
| HP:0002131 | Episodic ataxia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0000639 | Nystagmus | |
| Occasional (29-5%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0000364 | Hearing abnormality | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 17598824[PMID]_10668895[PMID]_6986979[PMID]_20136388[PMID]_1919667327[PMID]_329860[PMID]_17021405[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251915
- This record as JSON: /data/d/251915.json