Papilloma of choroid plexus
Synonyms: CPP · Choroid plexus papilloma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Papilloma of choroid plexus | CPP · Choroid plexus papilloma |
| fr | Papillome des plexus choroïdes | CPP |
| de | Choroid-Plexus-Papillom | CPP · Plexuspapillom, choroidales |
| es | Papiloma del plexo coroideo | |
| it | Papilloma del plesso corioideo | |
| nl | Papilloom van plexus choroideus | CPP · plexus choroideus-papilloom |
| pt | Papiloma do plexo coroideu | |
| pl | Brodawczak splotu naczyniówkowego | = en |
| cs | Papilom choroidálního plexu | = en |
| uk | Папілома судинного сплетіння | Папілома судинного сплетіння · CPP |
| zh | 脉络丛乳头状瘤 | 脉络膜丛乳头状瘤 |
| tr | Koroid pleksus papilloması | CPP · Koroid pleksus papillomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260500 | E | validated | |
| ICD-10 | D33.0 | NTBT | attributed | validated |
| ICD-11 | 2A00.22 | NTBT | index | validated |
| MONDO | 0009837 | E | validated | |
| MeSH | D020288 | E | validated | |
| UMLS | C0205770 | E | validated | |
| GARD | 4214 | E | validated | |
| MedDRA | 10008777 | 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:251896Choroid plexus tumor
rare neurological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 12085209[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.003 / 100 000 | Worldwide | Value and class | Validated | 23172371[PMID]_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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0200022 | Choroid plexus papilloma | |
| HP:0000238 | Hydrocephalus | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001276 | Hypertonia | |
| HP:0002664 | Neoplasm | |
| HP:0001250 | Seizure | |
| HP:0000505 | Visual impairment | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2807
- This record as JSON: /data/d/2807.json