Ganglioneuroblastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome, depending on the location of the tumor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ganglioneuroblastoma | |
| fr | Ganglioneuroblastome | |
| de | Ganglioneuroblastom | |
| es | Ganglioneuroblastoma | |
| it | Ganglioneuroblastoma | |
| nl | Ganglioneuroblastoom | |
| pt | Glanglioneuroblastoma | |
| pl | Nerwiak zwojokomórkowy zarodkowy | |
| cs | Ganglioneuroblastom | |
| uk | Гангліоневробластома | |
| zh | 神经节成神经细胞瘤 | |
| tr | Ganglionöroblastom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C71.9 | NTBT | attributed | validated |
| ICD-11 | 2A00.11 | NTBT | attributed | validated |
| MONDO | 0005035 | E | validated | |
| MeSH | D018305 | E | validated | |
| UMLS | C0206718 | E | validated | |
| MedDRA | 10017708 | 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:251870Central nervous system embryonal tumor
rare neurological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALK | Major susceptibility factor in | Assessed | HGNC:427 | ENSG00000171094 | 105590 | 2p23.2-p23.1 | ALK receptor tyrosine kinase | 20301782[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 425 cases | Worldwide | Case(s) | Validated | NCDB National Cancer Database[OTHER]_36171902[PMID]_36405824[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | NCDB National Cancer Database[OTHER]_36171902[PMID]_36405824[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251877
- This record as JSON: /data/d/251877.json