ORPHA:99756
Alveolar 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 | Alveolar rhabdomyosarcoma | |
| fr | Rhabdomyosarcome alvéolaire | |
| de | Rhabdomyosarkom, alveoläres | |
| es | Rabdomiosarcoma alveolar | |
| it | Rabdomiosarcoma alveolare | |
| nl | Alveolair rhabdomyosarcoom | |
| pt | Rabdomiossarcoma, alveolar | |
| pl | Mięsak prążkowanokomórkowy pęcherzykowy | |
| cs | Alveolární rhabdomyosarkom | |
| uk | Альвеолярна рабдоміосаркома | |
| zh | 肺泡状横纹肌肉瘤 | |
| tr | Alveolar rabdomyosarkom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268220 | E | validated | |
| ICD-10 | C49.9 | NTBT | index | validated |
| ICD-11 | 2B55.1 | NTBT | index | validated |
| ICD-11 | XH7099 | E | specific | validated |
| MONDO | 0009994 | E | validated | |
| MeSH | D018232 | E | validated | |
| UMLS | C0206655 | E | validated | |
| GARD | 4701 | E | validated | |
| MedDRA | 10065867 | 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
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 7706467[PMID] |
| NF1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 34166060[PMID] |
| FOXO1 | Part of a fusion gene in | Assessed | HGNC:3819 | ENSG00000150907 | 136533 | 13q14.11 | forkhead box O1 | |
| PAX3 | Part of a fusion gene in | Assessed | HGNC:8617 | ENSG00000135903 | 606597 | 2q36.1 | paired box 3 | |
| PAX7 | Part of a fusion gene in | Assessed | HGNC:8621 | ENSG00000009709 | 167410 | 1p36.13 | paired box 7 |
5
Prevalence and incidence
23 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.018 / 100 000 | Austria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.054 / 100 000 | Belgium | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.03 / 100 000 | Bulgaria | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.017 / 100 000 | Croatia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | Czech Republic | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.009 / 100 000 | Estonia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.002 / 100 000 | Finland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.033 / 100 000 | Germany | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.085 / 100 000 | Iceland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.062 / 100 000 | Ireland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.039 / 100 000 | Italy | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.005 / 100 000 | Latvia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.021 / 100 000 | Lithuania | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.063 / 100 000 | Malta | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.035 / 100 000 | Norway | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | Poland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | Portugal | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.029 / 100 000 | Slovakia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.044 / 100 000 | Slovenia | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.027 / 100 000 | Spain | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.045 / 100 000 | Switzerland | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.036 / 100 000 | Netherlands | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | <1 / 1 000 000 | 0.039 / 100 000 | United Kingdom | 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/99756
- This record as JSON: /data/d/99756.json