Choroid plexus carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Choroid plexus carcinoma | |
| fr | Carcinome des plexus choroïdes | |
| de | Choroid-Plexuskarzinom | Plexuskarzinom |
| es | Carcinoma del plexo coroideo | |
| it | Carcinoma del plesso corioideo | |
| nl | Carcinoom van plexus choroideus | Plexus choroideus-carcinoom |
| pt | Carcinoma do plexo coróide | |
| pl | Rak splotu naczyniówkowego | |
| cs | Karcinom choroidálního plexu | |
| uk | Карцинома судинного сплетіння | |
| zh | 脉络丛癌 | |
| tr | Koroid pleksus karsinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260500 | NTBT | validated | |
| ICD-10 | C71.7 | NTBT | index | validated |
| ICD-11 | 2A00.22 | NTBT | index | validated |
| ICD-11 | XH3M77 | E | specific | validated |
| MONDO | 0016718 | E | validated | |
| MeSH | C562943 | E | validated | |
| UMLS | C0431109 | E | validated | |
| GARD | 8238 | E | validated | |
| MedDRA | 10067478 | 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 | 21445348[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.01 / 100 000 | Europe | Value and class | Validated | 2033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | 2033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Lifetime Prevalence | 1-9 / 1 000 000 | 0.35 / 100 000 | Europe | Value and class | Validated | 2033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251899
- This record as JSON: /data/d/251899.json