RHABDOID TUMOR PREDISPOSITION SYNDROME 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RTPS2 |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
613325
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
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(HPO:0100006) | Neoplasm of the central nervous system | 34 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Schneppenheim et al. (2010) reported 2 German sisters with highly aggressive malignant embryonal tumors of the brain. At age 8 months, the first girl was found to have a mass originating from the right cerebellopontine angle involving the ... |
| Molecular genetics OMIM |
By candidate gene sequencing in 2 German sisters with early-onset fatal rhabdoid tumors, Schneppenheim et al. (2010) identified a heterozygous germline truncating mutation in the SMARCA4 gene (R1189X; 603254.0001). The girls' unaffected father was heterozygous for the germline ... |