Rhabdoid Tumor Predisposition Syndrome 1; Rtps1

Description

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 neuroectodermal tumors (Sevenet et al., 1999).Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). Genetic Heterogeneity of Rhaboid Tumor Predisposition SyndromeSee also RTPS2 (OMIM ), caused by germline mutation in the SMARCA4 gene (OMIM ) on chromosome 19p13.

Clinical Features

Top most frequent phenotypes and symptoms related to Rhabdoid Tumor Predisposition Syndrome 1; Rtps1

  • Neoplasm
  • Carcinoma
  • Confusion
  • Sarcoma
  • Neuroblastoma
  • Brain neoplasm
  • Astrocytoma
  • Medulloblastoma
  • Schwannoma
  • Neoplasm of the central nervous system

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Rhabdoid Tumor Predisposition Syndrome 1; Rtps1 Is also known as brain tumor, posterior fossa, of infancy, familial.

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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Rhabdoid Tumor Predisposition Syndrome 1; Rtps1 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
10 %
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
50 %
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
50 %
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
10 %
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
2 %
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
19 %
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
19 %
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
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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