Extragonadal germinoma
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Extragonadal germinoma | |
| fr | Germinome extragonadique | |
| de | Germinom, extragonadales | |
| es | Germinoma extragonadal | |
| it | Germinoma extragonadico | |
| nl | Extragonadaal germinoom | |
| pt | Germinoma extragonadal | |
| pl | Zarodczak pozagonadalny | |
| cs | Extragonadální germinom | |
| uk | Екстрагонадна гермінома | |
| zh | 外性腺生殖细胞瘤 | |
| tr | Ekstragonadal germinom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C38.3 | NTBT | attributed | not yet validated |
| ICD-10 | C48.8 | NTBT | attributed | not yet validated |
| ICD-10 | C72.9 | NTBT | attributed | not yet validated |
| MONDO | 0015935 | E | validated | |
| MeSH | D018237 | E | validated | |
| UMLS | C5190513 | E | validated | |
| GARD | 2005 | E | validated | |
| MedDRA | 10018207 | 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:363579Extragonadal germ cell tumor
rare neoplastic diseases; rare transplant-related disorders
Children (1):
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| JMJD1C | ORPHA:91352Germinoma of the central nervous system | 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/182127
- This record as JSON: /data/d/182127.json