Atypical Teratoid Rhabdoid Tumor
Description
Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.
Clinical Features
Top most frequent phenotypes and symptoms related to Atypical Teratoid Rhabdoid Tumor
- Seizures
- Ataxia
- Muscle weakness
- Macrocephaly
- Hydrocephalus
- Irritability
- Nausea and vomiting
- Limitation of joint mobility
- Migraine
- Cerebral calcification
And another 6 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Not enough data available about incidence and published cases.— No data available about the known clinical features onset.
Alternative names
Atypical Teratoid Rhabdoid Tumor Is also known as atrt.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
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Atypical Teratoid Rhabdoid Tumor Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Coffin-Siris Syndrome Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
 VistaSeq Brain/CNS/PNS Cancer Panel.
By Molecular Diagnostic Laboratory University of Alberta (Canada).
SMARCB1, TP53, VHL, SUFU, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PMS2, PHOX2B, PTCH1, RB1
Specificity
6 %
Genes
100 % |
|
SMARCB1 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SMARCB1
Specificity
100 %
Genes
100 % |
|
Cornelia de Lange Syndrome PLUS Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
|
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)
View the complete list with 153 more genes
Specificity
1 %
Genes
100 % |
|
Coffin-Siris syndrome Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
100 % |
|
Coffin-Siris syndrome Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
100 % |
|
Cornelia de Lange PLUS Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
Sources and references
You can check the following sources for additional information.
ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3 INCONTINENTIA PIGMENTI AICARDI-GOUTIERES SYNDROME 7; AGS7 HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J FOVEAL HYPOPLASIA 2; FVH2
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