Neuroblastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare embryonal tumor of neuroepithelial tissue arising from neural crest cells, typically presenting in infancy or early childhood. Its symptoms depend on tumor stage and location along the sympathetic nervous system, ranging from localized masses to metastatic disease involving the bone, bone marrow, liver, lymph nodes, lung, central nervous system, or skin. Unlike more benign peripheral neuroblastic tumors (intermixed ganglioneuroblastoma and ganglioneuroma), neuroblastoma is characterized by its potential for aggressive invasion and metastases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuroblastoma | |
| fr | Neuroblastome | |
| de | Neuroblastom | Sympathoblastom |
| es | Neuroblastoma | |
| it | Neuroblastoma | |
| nl | Neuroblastoom | |
| pt | Neuroblastoma | Tumor da crista neural |
| pl | Neuroblastoma/Zwojak zarodkowy współczulny | Sympathoblastoma |
| cs | Neuroblastom | |
| uk | Нейробластома | |
| zh | 神经母细胞瘤 | |
| tr | Nöroblastom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256700 | BTNT | validated | |
| OMIM | 613013 | BTNT | validated | |
| OMIM | 613014 | BTNT | validated | |
| OMIM | 613015 | BTNT | validated | |
| OMIM | 613016 | BTNT | validated | |
| OMIM | 613017 | BTNT | validated | |
| OMIM | 616792 | BTNT | validated | |
| ICD-10 | C74.9 | NTBT | index | validated |
| ICD-11 | 2A00.11 | NTBT | index | validated |
| ICD-11 | XH85Z0 | E | specific | validated |
| MONDO | 0005072 | E | validated | |
| MeSH | D009447 | E | validated | |
| UMLS | C0027819 | E | validated | |
| GARD | 7185 | E | validated | |
| MedDRA | 10029260 | 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
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYCN | Biomarker tested in | Assessed | HGNC:7559 | ENSG00000134323 | 164840 | 2p24.3 | MYCN proto-oncogene, bHLH transcription factor | |
| ALK | Major susceptibility factor in | Assessed | HGNC:427 | ENSG00000171094 | 105590 | 2p23.2-p23.1 | ALK receptor tyrosine kinase | 18923523[PMID] |
| HACE1 | Major susceptibility factor in | Assessed | HGNC:21033 | ENSG00000085382 | 610876 | 6q16.3 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 22911191[PMID] |
| LIN28B | Major susceptibility factor in | Assessed | HGNC:32207 | ENSG00000187772 | 611044 | 6q16.3-q21 | lin-28 RNA binding posttranscriptional regulator B | 22911191[PMID] |
| LMO1 | Major susceptibility factor in | Assessed | HGNC:6641 | ENSG00000166407 | 186921 | 11p15.4 | LIM domain only 1 | 26560027[PMID] |
| PHOX2B | Major susceptibility factor in | Assessed | HGNC:9143 | ENSG00000109132 | 603851 | 4p13 | paired like homeobox 2B | 15024693[PMID] |
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 11 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | Europe | Value and class | Not yet validated | 16919772[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | United States | Value and class | Validated | 21108439[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 14 / 100 000 | Germany | Value and class | Validated | 11932471[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.26 / 100 000 | Worldwide | Value and class | Not yet validated | 22796286[PMID] |
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
34 annotations · validated 2023-09-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011976 | Elevated urinary catecholamines | |
| HP:0004375 | Neoplasm of the nervous system | |
| HP:0003006 | Neuroblastoma | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0031500 | Abdominal mass | |
| HP:0001903 | Anemia | |
| HP:0002028 | Chronic diarrhea | |
| HP:0003334 | Elevated circulating catecholamine level | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0001017 | Anemic pallor | |
| HP:0031955 | Antalgic gait | |
| HP:0002653 | Bone pain | |
| HP:0011977 | Elevated urinary homovanillic acid | |
| HP:0011978 | Elevated urinary vanillylmandelic acid | |
| HP:0002277 | Horner syndrome | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0000737 | Irritability | |
| HP:0002756 | Pathologic fracture | |
| HP:0000520 | Proptosis | |
| HP:0002098 | Respiratory distress | |
| HP:0002176 | Spinal cord compression | |
| HP:0001482 | Subcutaneous nodule | |
| Very rare (<4-1%) | ||
| HP:0001251 | Ataxia | |
| HP:0000822 | Hypertension | |
| HP:0001336 | Myoclonus | |
| HP:0010543 | Opsoclonus | |
| HP:0025553 | Periorbital ecchymosis with tarsal plate sparing | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28846355[PMID]_3030523[PMID]_29378002[PMID]_27830764[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/635
- This record as JSON: /data/d/635.json