Retinoblastoma; Rb1

Description

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

Clinical Features

Top most frequent phenotypes and symptoms related to Retinoblastoma; Rb1

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm
  • Strabismus
  • Abnormal facial shape
  • Cleft palate
  • Pain
  • Cataract

And another 56 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Retinoblastoma; Rb1 have a estimated incidence of 0.05 per 100k worldwide.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Retinoblastoma; Rb1 extracted from public data.

Retinoblastoma; Rb1 Experts map



Current Researchs and researchers

  • ORSAY — Dr Simon SAULE

    Investigator of research project

    • Institution/s:
      — Institut Curie
    • Research area/topic::

      Stem cells and transdifferentiation of the retina: the retinoblastoma as a model study


  • PARIS — Dr Livia LUMBROSO-LE ROUIC

    Investigator of research project

    • Institution/s:
      — CLCC Institut Curie
    • Research area/topic::

      Conservative treatment of patients with retinoblastoma


  • ESSEN — Dr Petra TEMMING

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Essen
      — Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Essen
    • Research area/topic::

      Retinoblastoma-Registry: A clinical registry for prospective data on retinoblastoma epidemiology and clinical course


  • HOUSTON — Nicholas BAKER

    Investigator of research project

    • Institution/s:
      — Baylor College Of Medicine
    • Research area/topic::

      Neuronal cell cycle and survival



Mendelian

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Retinoblastoma; Rb1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
3 %
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 %
Retinoblastoma.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

RB1
Specificity
100 %
Genes
100 %
Genetic testing in retinoblastoma.

By Eye Cancer Genetics Universitätsklinikum Essen (Germany).

RB1
Specificity
100 %
Genes
100 %
Hereditary Cancer Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, SUFU, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Retinoblastoma.

By Genetic Pathology SA Pathology (Australia).

RB1
Specificity
100 %
Genes
100 %
CancerNext-Expanded.

By Ambry Genetics (United States).

BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1 , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
100 %

We have 104 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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