Congenital mesoblastic nephroma
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare renal tumor characterized by a unilateral, solitary, well demarcated, mesenchymal/myofibroblastic neoplasm occurring in very young children. Histopathologically, three subtypes (classic, cellular, and mixed) can be distinguished. The tumor most commonly involves the renal sinus and is typically discovered as a palpable abdominal mass. Patients may also present with hypertension or hematuria, rarely with hypercalcemia or hyperreninemia. Prenatal presentation, usually with polyhydramnios, is not infrequent. The most important prognostic factor is completeness of surgical resection. Overall, malignant potential is low and clinical outcome favorable.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital mesoblastic nephroma | |
| fr | Néphrome mésoblastique congénital | |
| de | Mesoblastisches Nephrom, kongenitale Form | |
| es | Nefroma mesoblástico congénito | |
| it | Nefroma mesoblastico congenito | |
| nl | Congenitaal mesoblastisch nefroom | |
| pt | Nefroma mesoblástico congénito | |
| pl | Wrodzony nerczak mezoblastyczny | |
| cs | Vrozený mezoblastický nefrom | |
| uk | Вроджена мезобластична нефрома | |
| zh | 先天性中胚层肾瘤 | |
| tr | Doğumsal mezoblastik nefroma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D41.0 | NTBT | index | validated |
| ICD-11 | 2C90.Y | NTBT | index | validated |
| MONDO | 0017043 | E | validated | |
| MeSH | D018201 | E | validated | |
| UMLS | C1332965 | E | validated | |
| GARD | 1493 | E | validated | |
| MedDRA | 10070665 | 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:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93619Rare renal tumor
rare renal diseases; rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ETV6 | Part of a fusion gene in | Assessed | HGNC:3495 | ENSG00000139083 | 600618 | 12p13.2 | ETS variant transcription factor 6 | 12165445[PMID]_16681692[PMID] |
| NTRK3 | Part of a fusion gene in | Assessed | HGNC:8033 | ENSG00000140538 | 191316 | 15q25.3 | neurotrophic receptor tyrosine kinase 3 | 12165445[PMID]_16681692[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/2665
- This record as JSON: /data/d/2665.json