Pineocytoma
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult, Elderly
- Status
- active
Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pineocytoma | |
| fr | Pinéocytome | |
| de | Pineozytom | |
| es | Pineocitoma | |
| it | Pineocitoma | |
| nl | Pineocytoom | |
| pt | Pineocitoma | |
| pl | Szyszyniak | |
| cs | Pineocytom | |
| uk | Пінеоцитома | |
| zh | 松果体细胞瘤 | |
| tr | Pineositom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D44.5 | NTBT | index | validated |
| ICD-11 | 2A00.20 | NTBT | index | validated |
| ICD-11 | XH1K94 | E | specific | validated |
| MONDO | 0016723 | E | validated | |
| UMLS | C0917890 | E | validated | |
| GARD | 8207 | E | validated | |
| MedDRA | 10035059 | 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
13 annotations · validated 2017-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| 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 5 obligate / very frequent terms
Annotation source: 10668895[PMID]_6986979[PMID]_20136388[PMID]_19329860[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251912
- This record as JSON: /data/d/251912.json