Rhabdoid tumor

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr: 69077
OMIM Id: 609322
613325
ICD-10:
UMLs: C0206743
MeSH: D018335
MedDRA:
Snomed: 83118000

Prevalence, inheritance and age of onset:

Prevalence: 500 cases [Orphanet]
Inheritance:
Age of onset: Antenatal
Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Soft tissue sarcoma
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0009726) Renal neoplasm Frequent [Orphanet] 20 / 7739
2
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
3
 (HPO:0000597) Ophthalmoparesis Frequent [Orphanet] 71 / 7739
4
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
5
 (HPO:0100006) Neoplasm of the central nervous system Frequent [Orphanet] 34 / 7739
6
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
7
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
8
 (HPO:0100021) Cerebral palsy Frequent [Orphanet] 36 / 7739
9
 (HPO:0006824) Cranial nerve paralysis Frequent [Orphanet] 81 / 7739
10
 (HPO:0002896) Neoplasm of the liver Frequent [Orphanet] 17 / 7739
11
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
12
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
13
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
14
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
15
 (HPO:0011029) Internal hemorrhage Frequent [Orphanet] 4 / 7739
16
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
17
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
18
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
19
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
20
 (HPO:0003072) Hypercalcemia Occasional [Orphanet] 36 / 7739
21
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
22
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
23
 (HPO:0030448) Soft tissue sarcoma Frequent [Orphanet] 18 / 7739
24
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: