Gonadoblastoma
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent
- Status
- active
Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gonadoblastoma | |
| fr | Gonadoblastome | |
| de | Gonadoblastom | |
| es | Gonadoblastoma | |
| it | Gonadoblastoma ovarico | |
| nl | Gonadoblastoom | |
| pt | Gonadoblastoma | |
| pl | Gonadoblastoma | |
| cs | Ovariální gonadoblastom | |
| uk | Гонадобластома | |
| zh | 性腺母细胞瘤 | |
| tr | Gonadoblastom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 424500 | E | validated | |
| ICD-10 | D39.1 | NTBT | attributed | validated |
| MONDO | 0002697 | E | validated | |
| MeSH | D018238 | E | validated | |
| UMLS | C0206661 | 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 (2):
- ORPHA:398940Malignant non-epithelial tumor of ovary
rare neoplastic diseases; rare gynecological and obstetric diseases - ORPHA:363472Tumor of testis and paratestis
rare urogenital 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
11 annotations · validated 2016-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000137 | Abnormality of the ovary | |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0000149 | Ovarian gonadoblastoma | Pathognomonic sign |
| Frequent (79-30%) | ||
| HP:0100621 | Dysgerminoma | |
| HP:0008703 | Gonadal calcification | |
| HP:0008723 | Gonadal dysgenesis with female appearance, male | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002027 | Abdominal pain | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0001007 | Hirsutism | |
| HP:0030088 | Increased serum testosterone level | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 10999808[PMID]_24826988[PMID]_23933507[PMID]_25535833[PMID]_17504899[PMID]_15973330[PMID]_14149008[PMID]_16735607[PMID]_1326038[PMID]_3548944[PMID]_4193741[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206484
- This record as JSON: /data/d/206484.json