ORPHA:99757
Embryonal rhabdomyosarcoma
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial
- Status
- active
This disease is described under Rhabdomyosarcoma
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Embryonal rhabdomyosarcoma | |
| fr | Rhabdomyosarcome embryonnaire | |
| de | Rhabdomyosarkom, embryonales | |
| es | Rabdomiosarcoma embrionario | |
| it | Rabdomiosarcoma embrionale | |
| nl | Embryonaal rhabdomyosarcoom | |
| pt | Rabdomiossarcoma, embrionário | |
| pl | Mięsak prążkowanokomórkowy płodowy | |
| cs | Embryonální rhabdomyosarkom | |
| uk | Ембріональна рабдоміосаркома | |
| zh | 胚胎横纹肌肉瘤 | |
| tr | Embriyonal rabdomyosarkom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180295 | BTNT | validated | |
| OMIM | 268210 | BTNT | validated | |
| ICD-10 | C49.9 | NTBT | index | validated |
| MONDO | 0009993 | E | validated | |
| MeSH | D018233 | E | validated | |
| UMLS | C0206656 | E | validated | |
| GARD | 4702 | E | validated | |
| MedDRA | 10065868 | 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 (1):
- ORPHA:780Rhabdomyosarcoma
rare neurological diseases; rare neoplastic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC67A1 | Candidate gene tested in | Not yet assessed | HGNC:10964 | ENSG00000110628 | 602631 | 11p15.4 | solute carrier family 67 member 1 | 9520460[PMID] |
| TP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 7706467[PMID] |
| DICER1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:17098 | ENSG00000100697 | 606241 | 14q32.13 | dicer 1, ribonuclease III | 22180160[PMID] |
| NF1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 34166060[PMID] |
5
Prevalence and incidence
23 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.048 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.091 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.034 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.054 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.011 / 100 000 | Czech Republic | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.055 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.005 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.046 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.089 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.045 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.032 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.046 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.057 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.035 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.051 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.074 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.088 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.051 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.051 / 100 000 | Switzerland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.093 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.053 / 100 000 | United Kingdom | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.128 / 100 000 | Iceland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.126 / 100 000 | Malta | 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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99757
- This record as JSON: /data/d/99757.json