Atypical teratoid tumor

General Information (adopted from Orphanet):

Synonyms, Signs: RDT, INCLUDED
BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED
AT/RT, INCLUDED
TERATOID TUMOR, ATYPICAL, INCLUDED
RHABDOID TUMOR, INCLUDED
RTPS1
Number of Symptoms 20
OrphanetNr: 99966
OMIM Id: 609322
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Antenatal
Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Embryonal tumor of the neuroepithelial tissue
 -Rare neurologic disease
 -Rare oncologic disease
Rhabdoid tumor
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
2
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
3
 (HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
4
 (HPO:0002360) Sleep disturbance Frequent [Orphanet] 113 / 7739
5
 (HPO:0002885) Medulloblastoma 20 / 7739
6
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
7
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
8
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
9
 (HPO:0100021) Cerebral palsy Occasional [Orphanet] 36 / 7739
10
 (HPO:0100006) Neoplasm of the central nervous system Very frequent [Orphanet] 34 / 7739
11
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
12
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
13
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
14
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
15
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
16
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
17
 (OMIM) Rhabdoid tumors, malignant (renal or extrarenal) 1 / 7739
18
 (OMIM) Atypical teratoid tumors 1 / 7739
19
 (MedDRA:10067478) Choroid plexus carcinoma 1 / 7739
20
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive ...
Clinical Description OMIM Bonnin et al. (1984) described 7 patients with rhabdoid tumors of the kidney who had CNS tumors that differed in their histology. Weeks et al. (1989) reported on a series of 111 cases of which 13.5% with renal ...
Molecular genetics OMIM - Germline Mutations in the SMARCB1 Gene

In affected members of 3 different families with the rhabdoid predisposition syndrome, Sevenet et al. (1999) identified heterozygous germline loss-of-function mutations in the SMARCB1 gene (see, e.g., 601607.0003). Tumor ...