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GTR Home > Conditions/Phenotypes > Retinoblastoma

Retinoblastoma

Synonyms
Eye cancer, retinoblastoma; RETINOBLASTOMA, SOMATIC
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Retinoblastoma
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is associated with susceptibility for retinoblastoma as well as non-ocular tumors.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Dietmar R Lohmann
Brenda L Gallie
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Available tests

86 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (86 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OSRC, PPP1R130, RB, p105-Rb, p110-RB1, pRb, pp110, RB1
    Summary: RB transcriptional corepressor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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