Germinoma of the central nervous system
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Germinoma of the central nervous system | |
| fr | Germinome du système nerveux central | |
| de | Germinom des Zentralnervensystems | |
| es | Germinoma del sistema nervioso central | |
| it | Germinoma del sistema nervoso centrale | Germinoma intracranico |
| nl | Germinoom van centraal zenuwstelsel | |
| pt | Germinoma do cérebro | |
| pl | Zarodczak centralnego układu nerwowego | Wewnątrzczaszkowa germinoma |
| cs | Germinom centrálního nervového systému | Intrakraniální germinom |
| uk | Гермінома центральної нервової системи | |
| zh | 中枢神经系统生殖细胞瘤 | |
| tr | Merkezi sinir sistemi germinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C72.9 | NTBT | attributed | validated |
| ICD-11 | 2A00.1Y | NTBT | index | validated |
| UMLS | C1333813 | E | validated | |
| MedDRA | 10065852 | 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 (3):
- ORPHA:182127Extragonadal germinoma
rare neoplastic diseases; rare transplant-related disorders - ORPHA:95503Pituitary hormone deficiency of tumoral origin
rare endocrine diseases - ORPHA:251995Primary germ cell tumor of central nervous system
rare neurological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JMJD1C | Major susceptibility factor in | Assessed | HGNC:12313 | ENSG00000171988 | 604503 | 10q21.3 | jumonji domain containing 1C | 24896186[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91352
- This record as JSON: /data/d/91352.json