ORPHA:654
Nephroblastoma
Synonyms: Renal embryonic tumor · Wilms tumor
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nephroblastoma | Renal embryonic tumor · Wilms tumor |
| fr | Néphroblastome | Tumeur de Wilms · Tumeur embryonnaire rénale |
| de | Nephroblastom | Nierentumor, embryonaler · Wilms Tumor |
| es | Nefroblastoma | Tumor de Wilms · Tumor renal embrionario |
| it | Nefroblastoma | Tumore di Wilms · Tumore embrionale del rene |
| nl | Nefroblastoom | Embryonale niertumor · Wilmstumor |
| pt | Nefroblastoma | Tumor de Wilms |
| pl | Nerczak zarodkowy | Guz Wilmsa · Nerczak płodowy |
| cs | Nefroblastom | Embryonální smíšený nádor ledviny · Wilmsův tumor |
| uk | Нефробластома | Ембріональна пухлина нирки · Пухлина Вільмса |
| zh | 肾母细胞瘤 | 肾脏畸胎瘤 |
| tr | Nefroblastom | Wilms tümörü · Renal embriyonik tümör |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 194070 | BTNT | validated | |
| OMIM | 194071 | BTNT | validated | |
| OMIM | 194090 | BTNT | validated | |
| OMIM | 601363 | BTNT | validated | |
| OMIM | 601583 | BTNT | validated | |
| OMIM | 616806 | BTNT | validated | |
| ICD-10 | C64 | NTBT | index | validated |
| ICD-11 | 2C90.Y | NTBT | index | validated |
| MONDO | 0019004 | E | validated | |
| MeSH | D009396 | E | validated | |
| UMLS | C0027708 | E | validated | |
| GARD | 7892 | E | validated | |
| MedDRA | 10029145 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183595Genetic renal tumor
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93619Rare renal tumor
rare renal diseases; rare neoplastic diseases
No children.
4
Genes
12 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPC3 | Biomarker tested in | Assessed | HGNC:4451 | ENSG00000147257 | 300037 | Xq26.2 | glypican 3 | 12085187[PMID]_25366870[PMID] |
| BRCA2 | Candidate gene tested in | Not yet assessed | HGNC:1101 | ENSG00000139618 | 600185 | 13q13.1 | BRCA2 DNA repair associated | 15689453[PMID] |
| TRIP13 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12307 | ENSG00000071539 | 604507 | 5p15.33 | thyroid hormone receptor interactor 13 | 28553959[PMID] |
| CTR9 | Disease-causing germline mutation(s) in | Assessed | HGNC:16850 | ENSG00000198730 | 609366 | 11p15.4 | CTR9 component of Paf1/RNA polymerase II complex | 39293508[PMID]_25099282[PMID] |
| TRIM28 | Disease-causing germline mutation(s) in | Assessed | HGNC:16384 | ENSG00000130726 | 601742 | 19q13.43 | tripartite motif containing 28 | 29912901[PMID] |
| TRIM28 | Disease-causing somatic mutation(s) in | Assessed | HGNC:16384 | ENSG00000130726 | 601742 | 19q13.43 | tripartite motif containing 28 | 29912901[PMID] |
| WT1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:12796 | ENSG00000184937 | 607102 | 11p13 | WT1 transcription factor | |
| DIS3L2 | Major susceptibility factor in | Assessed | HGNC:28648 | ENSG00000144535 | 614184 | 2q37.1 | DIS3 like 3'-5' exoribonuclease 2 | |
| POU6F2 | Major susceptibility factor in | Assessed | HGNC:21694 | ENSG00000106536 | 609062 | 7p14.1 | POU class 6 homeobox 2 | |
| REST | Major susceptibility factor in | Assessed | HGNC:9966 | ENSG00000084093 | 600571 | 4q12 | RE1 silencing transcription factor | 26551668[PMID] |
| WT1 | Major susceptibility factor in | Assessed | HGNC:12796 | ENSG00000184937 | 607102 | 11p13 | WT1 transcription factor | |
| H19 | Role in the phenotype of | Assessed | HGNC:4713 | ENSG00000130600 | 103280 | 11p15.5 | H19 imprinted maternally expressed transcript |
5
Prevalence and incidence
27 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.14 / 100 000 | Europe | Value and class | Validated | 22357215[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | 22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Lifetime Prevalence | 1-9 / 100 000 | 3.65 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.144 / 100 000 | United Kingdom | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | <1 / 1 000 000 | 0.072 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.006 / 100 000 | Czech Republic | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.089 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.043 / 100 000 | Iceland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.065 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.066 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.121 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.195 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.155 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.139 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.158 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.17 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.111 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.12 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.157 / 100 000 | Malta | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.131 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.111 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.162 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.144 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.113 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.135 / 100 000 | Switzerland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.176 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
27 annotations · validated 2024-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031500 | Abdominal mass | |
| HP:0002664 | Neoplasm | |
| HP:0002667 | Nephroblastoma | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0005580 | Duplication of renal pelvis | |
| HP:0012587 | Macroscopic hematuria | |
| Occasional (29-5%) | ||
| HP:0031105 | Abnormal uterus morphology | |
| HP:0001903 | Anemia | |
| HP:0000526 | Aniridia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000086 | Ectopic kidney | |
| HP:0001945 | Fever | |
| HP:0001528 | Hemihypertrophy | |
| HP:0000085 | Horseshoe kidney | |
| HP:0003072 | Hypercalcemia | |
| HP:0000822 | Hypertension | |
| HP:0000047 | Hypospadias | |
| HP:0002716 | Lymphadenopathy | |
| HP:0033834 | Malaise | |
| HP:0002907 | Microscopic hematuria | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0001901 | Polycythemia | |
| HP:0008330 | Reduced von Willebrand factor activity | |
| HP:0012871 | Varicocele | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0002094 | Dyspnea | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28723033[PMID]_27512767[PMID]_26835318[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/654
- This record as JSON: /data/d/654.json