ORPHA:231108
Rhabdoid tumor predisposition syndrome
Synonyms: RTPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rhabdoid tumor predisposition syndrome | RTPS |
| fr | Syndrome de prédisposition aux tumeurs rhabdoïdes | = en |
| de | Rhabdoidtumor-Prädispositionssyndrom | = en |
| es | Tumor rabdoide familiar | |
| it | Sindrome da predisposizione ai tumori rabdoidi | = en |
| nl | Syndroom van predispositie voor rhabdoïde tumor | = en |
| pt | Síndrome de predisposição a tumor rabdóide | = en |
| pl | Rodzinny guz rabdoidalny | Zespół predyspozycji do guza rabdoidalnego |
| cs | Familiární rhabdoidní nádor | RTPS · Syndrom predispozice k rhabdoidnímu nádoru |
| uk | Синдром схильності до рабдоїдної пухлини | = en |
| zh | 家族性横纹肌样肿瘤 | 横纹肌样瘤易感综合征 |
| tr | Ailesel rabdoid tümör | RTPS · Rabdoid tümör yatkınlık sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609322 | BTNT | validated | |
| OMIM | 613325 | BTNT | validated | |
| ICD-10 | C49.9 | NTBT | attributed | validated |
| ICD-11 | 2B5K | NTBT | attributed | validated |
| UMLS | C2985524 | 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:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCB1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11103 | ENSG00000099956 | 601607 | 22q11.23 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | 10521299[PMID] |
| SMARCA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11100 | ENSG00000127616 | 603254 | 19p13.2 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | 20137775[PMID]_21566516[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/231108
- This record as JSON: /data/d/231108.json